≈ 2114 relations sortantes
- en:attacks may present during or after sleep --
r_associated #0: 30 / 1 ->
en:areflexia of lower limbs
n1=en:attacks may present during or after sleep | n2=en:areflexia of lower limbs | rel=r_associated | relid=0 | w=30
- en:attacks may present during or after sleep --
r_associated #0: 30 / 1 ->
en:edema
n1=en:attacks may present during or after sleep | n2=en:edema | rel=r_associated | relid=0 | w=30
- en:attacks may present during or after sleep --
r_associated #0: 30 / 1 ->
en:face edema
n1=en:attacks may present during or after sleep | n2=en:face edema | rel=r_associated | relid=0 | w=30
- en:attacks may present during or after sleep --
r_associated #0: 30 / 1 ->
en:hypoplasia of muscle
n1=en:attacks may present during or after sleep | n2=en:hypoplasia of muscle | rel=r_associated | relid=0 | w=30
- en:attacks may present during or after sleep --
r_associated #0: 30 / 1 ->
en:muscle weakness
n1=en:attacks may present during or after sleep | n2=en:muscle weakness | rel=r_associated | relid=0 | w=30
- en:attacks may present during or after sleep --
r_associated #0: 30 / 1 ->
en:precipitated by fatigue or alcohol
n1=en:attacks may present during or after sleep | n2=en:precipitated by fatigue or alcohol | rel=r_associated | relid=0 | w=30
- en:attacks may present during or after sleep --
r_associated #0: 30 / 1 ->
en:precipitated by fever
n1=en:attacks may present during or after sleep | n2=en:precipitated by fever | rel=r_associated | relid=0 | w=30
- en:attacks may present during or after sleep --
r_associated #0: 30 / 1 ->
en:short survival (less than 10 years after onset)
n1=en:attacks may present during or after sleep | n2=en:short survival (less than 10 years after onset) | rel=r_associated | relid=0 | w=30
- en:attacks may present during or after sleep --
r_associated #0: 30 / 1 ->
en:slight male predominance (3:2)
n1=en:attacks may present during or after sleep | n2=en:slight male predominance (3:2) | rel=r_associated | relid=0 | w=30
- en:attacks may present during or after sleep --
r_associated #0: 30 / 1 ->
en:small placenta
n1=en:attacks may present during or after sleep | n2=en:small placenta | rel=r_associated | relid=0 | w=30
- en:attacks may present during or after sleep --
r_associated #0: 30 / 1 ->
en:some patients show a favorable response to sulfonylurea treatment
n1=en:attacks may present during or after sleep | n2=en:some patients show a favorable response to sulfonylurea treatment | rel=r_associated | relid=0 | w=30
- en:attacks may present during or after sleep --
r_associated #0: 29 / 0.967 ->
en:fibromyalgia
n1=en:attacks may present during or after sleep | n2=en:fibromyalgia | rel=r_associated | relid=0 | w=29
- en:attacks may present during or after sleep --
r_associated #0: 29 / 0.967 ->
en:precipitated by general anesthesia
n1=en:attacks may present during or after sleep | n2=en:precipitated by general anesthesia | rel=r_associated | relid=0 | w=29
- en:attacks may present during or after sleep --
r_associated #0: 29 / 0.967 ->
en:progressive clinical course with onset in childhood
n1=en:attacks may present during or after sleep | n2=en:progressive clinical course with onset in childhood | rel=r_associated | relid=0 | w=29
- en:attacks may present during or after sleep --
r_associated #0: 29 / 0.967 ->
en:proximal myopathy
n1=en:attacks may present during or after sleep | n2=en:proximal myopathy | rel=r_associated | relid=0 | w=29
- en:attacks may present during or after sleep --
r_associated #0: 29 / 0.967 ->
en:syncope
n1=en:attacks may present during or after sleep | n2=en:syncope | rel=r_associated | relid=0 | w=29
- en:attacks may present during or after sleep --
r_associated #0: 29 / 0.967 ->
oedème de la face
n1=en:attacks may present during or after sleep | n2=oedème de la face | rel=r_associated | relid=0 | w=29
- en:attacks may present during or after sleep --
r_associated #0: 29 / 0.967 ->
oedème du visage
n1=en:attacks may present during or after sleep | n2=oedème du visage | rel=r_associated | relid=0 | w=29
- en:attacks may present during or after sleep --
r_associated #0: 28 / 0.933 ->
anomalie congénitale
n1=en:attacks may present during or after sleep | n2=anomalie congénitale | rel=r_associated | relid=0 | w=28
- en:attacks may present during or after sleep --
r_associated #0: 28 / 0.933 ->
en:berardinelli-seip congenital lipodystrophy
n1=en:attacks may present during or after sleep | n2=en:berardinelli-seip congenital lipodystrophy | rel=r_associated | relid=0 | w=28
- en:attacks may present during or after sleep --
r_associated #0: 28 / 0.933 ->
en:congenital fiber-type disproportion
n1=en:attacks may present during or after sleep | n2=en:congenital fiber-type disproportion | rel=r_associated | relid=0 | w=28
- en:attacks may present during or after sleep --
r_associated #0: 28 / 0.933 ->
en:fibrillation
n1=en:attacks may present during or after sleep | n2=en:fibrillation | rel=r_associated | relid=0 | w=28
- en:attacks may present during or after sleep --
r_associated #0: 28 / 0.933 ->
en:hyporeflexia of lower limbs
n1=en:attacks may present during or after sleep | n2=en:hyporeflexia of lower limbs | rel=r_associated | relid=0 | w=28
- en:attacks may present during or after sleep --
r_associated #0: 28 / 0.933 ->
en:mitochondrial myopathy
n1=en:attacks may present during or after sleep | n2=en:mitochondrial myopathy | rel=r_associated | relid=0 | w=28
- en:attacks may present during or after sleep --
r_associated #0: 28 / 0.933 ->
en:muscle fatigue
n1=en:attacks may present during or after sleep | n2=en:muscle fatigue | rel=r_associated | relid=0 | w=28
- en:attacks may present during or after sleep --
r_associated #0: 28 / 0.933 ->
en:pelvic girdle weakness
n1=en:attacks may present during or after sleep | n2=en:pelvic girdle weakness | rel=r_associated | relid=0 | w=28
- en:attacks may present during or after sleep --
r_associated #0: 28 / 0.933 ->
en:possible x-linked dominant inheritance
n1=en:attacks may present during or after sleep | n2=en:possible x-linked dominant inheritance | rel=r_associated | relid=0 | w=28
- en:attacks may present during or after sleep --
r_associated #0: 28 / 0.933 ->
en:prevalent among the amish
n1=en:attacks may present during or after sleep | n2=en:prevalent among the amish | rel=r_associated | relid=0 | w=28
- en:attacks may present during or after sleep --
r_associated #0: 28 / 0.933 ->
en:severe ambulatory restriction
n1=en:attacks may present during or after sleep | n2=en:severe ambulatory restriction | rel=r_associated | relid=0 | w=28
- en:attacks may present during or after sleep --
r_associated #0: 28 / 0.933 ->
en:some patients with advanced loss of vision have normal eog
n1=en:attacks may present during or after sleep | n2=en:some patients with advanced loss of vision have normal eog | rel=r_associated | relid=0 | w=28
- en:attacks may present during or after sleep --
r_associated #0: 28 / 0.933 ->
en:variable age at onset (late childhood to adult)
n1=en:attacks may present during or after sleep | n2=en:variable age at onset (late childhood to adult) | rel=r_associated | relid=0 | w=28
- en:attacks may present during or after sleep --
r_associated #0: 28 / 0.933 ->
en:virtually all patients with this condition are female
n1=en:attacks may present during or after sleep | n2=en:virtually all patients with this condition are female | rel=r_associated | relid=0 | w=28
- en:attacks may present during or after sleep --
r_associated #0: 28 / 0.933 ->
en:visual impairment is present at birth and is progressive
n1=en:attacks may present during or after sleep | n2=en:visual impairment is present at birth and is progressive | rel=r_associated | relid=0 | w=28
- en:attacks may present during or after sleep --
r_associated #0: 27 / 0.9 ->
en:exercise-induced muscle cramps
n1=en:attacks may present during or after sleep | n2=en:exercise-induced muscle cramps | rel=r_associated | relid=0 | w=27
- en:attacks may present during or after sleep --
r_associated #0: 27 / 0.9 ->
en:fasciculation
n1=en:attacks may present during or after sleep | n2=en:fasciculation | rel=r_associated | relid=0 | w=27
- en:attacks may present during or after sleep --
r_associated #0: 27 / 0.9 ->
en:hypotonia
n1=en:attacks may present during or after sleep | n2=en:hypotonia | rel=r_associated | relid=0 | w=27
- en:attacks may present during or after sleep --
r_associated #0: 27 / 0.9 ->
en:leg edema
n1=en:attacks may present during or after sleep | n2=en:leg edema | rel=r_associated | relid=0 | w=27
- en:attacks may present during or after sleep --
r_associated #0: 27 / 0.9 ->
en:necrotic process
n1=en:attacks may present during or after sleep | n2=en:necrotic process | rel=r_associated | relid=0 | w=27
- en:attacks may present during or after sleep --
r_associated #0: 27 / 0.9 ->
en:some patients may not present until adulthood
n1=en:attacks may present during or after sleep | n2=en:some patients may not present until adulthood | rel=r_associated | relid=0 | w=27
- en:attacks may present during or after sleep --
r_associated #0: 27 / 0.9 ->
en:some patients may present with myopathic features
n1=en:attacks may present during or after sleep | n2=en:some patients may present with myopathic features | rel=r_associated | relid=0 | w=27
- en:attacks may present during or after sleep --
r_associated #0: 27 / 0.9 ->
en:some patients show improvement during summer or with fever
n1=en:attacks may present during or after sleep | n2=en:some patients show improvement during summer or with fever | rel=r_associated | relid=0 | w=27
- en:attacks may present during or after sleep --
r_associated #0: 26 / 0.867 ->
en:difficulty standing
n1=en:attacks may present during or after sleep | n2=en:difficulty standing | rel=r_associated | relid=0 | w=26
- en:attacks may present during or after sleep --
r_associated #0: 26 / 0.867 ->
en:distal lower limb muscle weakness
n1=en:attacks may present during or after sleep | n2=en:distal lower limb muscle weakness | rel=r_associated | relid=0 | w=26
- en:attacks may present during or after sleep --
r_associated #0: 26 / 0.867 ->
en:hearing loss affects all frequencies
n1=en:attacks may present during or after sleep | n2=en:hearing loss affects all frequencies | rel=r_associated | relid=0 | w=26
- en:attacks may present during or after sleep --
r_associated #0: 26 / 0.867 ->
en:neonatal hypotonia
n1=en:attacks may present during or after sleep | n2=en:neonatal hypotonia | rel=r_associated | relid=0 | w=26
- en:attacks may present during or after sleep --
r_associated #0: 26 / 0.867 ->
en:predominantly lower limb lymphedema
n1=en:attacks may present during or after sleep | n2=en:predominantly lower limb lymphedema | rel=r_associated | relid=0 | w=26
- en:attacks may present during or after sleep --
r_associated #0: 26 / 0.867 ->
en:shoulder girdle weakness
n1=en:attacks may present during or after sleep | n2=en:shoulder girdle weakness | rel=r_associated | relid=0 | w=26
- en:attacks may present during or after sleep --
r_associated #0: 25 / 0.833 ->
en:carpopedal spasm
n1=en:attacks may present during or after sleep | n2=en:carpopedal spasm | rel=r_associated | relid=0 | w=25
- en:attacks may present during or after sleep --
r_associated #0: 25 / 0.833 ->
en:myasthenias
n1=en:attacks may present during or after sleep | n2=en:myasthenias | rel=r_associated | relid=0 | w=25
- en:attacks may present during or after sleep --
r_associated #0: 25 / 0.833 ->
en:percussion myotonias
n1=en:attacks may present during or after sleep | n2=en:percussion myotonias | rel=r_associated | relid=0 | w=25
- en:attacks may present during or after sleep --
r_associated #0: 25 / 0.833 ->
en:polymyositis
n1=en:attacks may present during or after sleep | n2=en:polymyositis | rel=r_associated | relid=0 | w=25
- en:attacks may present during or after sleep --
r_associated #0: 25 / 0.833 ->
en:premature aging syndrome
n1=en:attacks may present during or after sleep | n2=en:premature aging syndrome | rel=r_associated | relid=0 | w=25
- en:attacks may present during or after sleep --
r_associated #0: 25 / 0.833 ->
en:prevalence of true hypoprothrombinemia is 1 in 2 million
n1=en:attacks may present during or after sleep | n2=en:prevalence of true hypoprothrombinemia is 1 in 2 million | rel=r_associated | relid=0 | w=25
- en:attacks may present during or after sleep --
r_associated #0: 25 / 0.833 ->
en:sensorineural hearing loss may be presenting feature
n1=en:attacks may present during or after sleep | n2=en:sensorineural hearing loss may be presenting feature | rel=r_associated | relid=0 | w=25
- en:attacks may present during or after sleep --
r_associated #0: 25 / 0.833 ->
en:skeletal and facial features are variable
n1=en:attacks may present during or after sleep | n2=en:skeletal and facial features are variable | rel=r_associated | relid=0 | w=25
- en:attacks may present during or after sleep --
r_associated #0: 25 / 0.833 ->
en:symptoms precipitated by alcohol, caffeine, fatigue, stress, exertion, ovulation, menstruation
n1=en:attacks may present during or after sleep | n2=en:symptoms precipitated by alcohol, caffeine, fatigue, stress, exertion, ovulation, menstruation | rel=r_associated | relid=0 | w=25
- en:attacks may present during or after sleep --
r_associated #0: 25 / 0.833 ->
en:variable age of onset (7-59 years)
n1=en:attacks may present during or after sleep | n2=en:variable age of onset (7-59 years) | rel=r_associated | relid=0 | w=25
- en:attacks may present during or after sleep --
r_associated #0: 24 / 0.8 ->
en:cytochrome-c oxidase deficiency
n1=en:attacks may present during or after sleep | n2=en:cytochrome-c oxidase deficiency | rel=r_associated | relid=0 | w=24
- en:attacks may present during or after sleep --
r_associated #0: 24 / 0.8 ->
en:decreased exercise tolerance
n1=en:attacks may present during or after sleep | n2=en:decreased exercise tolerance | rel=r_associated | relid=0 | w=24
- en:attacks may present during or after sleep --
r_associated #0: 24 / 0.8 ->
en:dysphagia
n1=en:attacks may present during or after sleep | n2=en:dysphagia | rel=r_associated | relid=0 | w=24
- en:attacks may present during or after sleep --
r_associated #0: 24 / 0.8 ->
en:lymphangiectasia
n1=en:attacks may present during or after sleep | n2=en:lymphangiectasia | rel=r_associated | relid=0 | w=24
- en:attacks may present during or after sleep --
r_associated #0: 24 / 0.8 ->
en:muscular rigidity
n1=en:attacks may present during or after sleep | n2=en:muscular rigidity | rel=r_associated | relid=0 | w=24
- en:attacks may present during or after sleep --
r_associated #0: 24 / 0.8 ->
en:myalgia
n1=en:attacks may present during or after sleep | n2=en:myalgia | rel=r_associated | relid=0 | w=24
- en:attacks may present during or after sleep --
r_associated #0: 24 / 0.8 ->
en:myofibrillar myopathy
n1=en:attacks may present during or after sleep | n2=en:myofibrillar myopathy | rel=r_associated | relid=0 | w=24
- en:attacks may present during or after sleep --
r_associated #0: 24 / 0.8 ->
en:myopathy with abnormal lipid metabolism
n1=en:attacks may present during or after sleep | n2=en:myopathy with abnormal lipid metabolism | rel=r_associated | relid=0 | w=24
- en:attacks may present during or after sleep --
r_associated #0: 24 / 0.8 ->
en:prelingual onset
n1=en:attacks may present during or after sleep | n2=en:prelingual onset | rel=r_associated | relid=0 | w=24
- en:attacks may present during or after sleep --
r_associated #0: 24 / 0.8 ->
en:presentation in children - diarrhea, constipation (rarely), short stature, pubertal delay, rickets, iron and folate deficiency with anemia
n1=en:attacks may present during or after sleep | n2=en:presentation in children - diarrhea, constipation (rarely), short stature, pubertal delay, rickets, iron and folate deficiency with anemia | rel=r_associated | relid=0 | w=24
- en:attacks may present during or after sleep --
r_associated #0: 24 / 0.8 ->
en:rhabdomyolysis
n1=en:attacks may present during or after sleep | n2=en:rhabdomyolysis | rel=r_associated | relid=0 | w=24
- en:attacks may present during or after sleep --
r_associated #0: 24 / 0.8 ->
en:some patients have resolution of symptoms in first year of life
n1=en:attacks may present during or after sleep | n2=en:some patients have resolution of symptoms in first year of life | rel=r_associated | relid=0 | w=24
- en:attacks may present during or after sleep --
r_associated #0: 24 / 0.8 ->
en:some patients never gain ambulation or become wheelchair-bound
n1=en:attacks may present during or after sleep | n2=en:some patients never gain ambulation or become wheelchair-bound | rel=r_associated | relid=0 | w=24
- en:attacks may present during or after sleep --
r_associated #0: 24 / 0.8 ->
en:two unrelated consanguineous families (saudi arabian and israeli palestinian) have been reported (last curated february 2014)
n1=en:attacks may present during or after sleep | n2=en:two unrelated consanguineous families (saudi arabian and israeli palestinian) have been reported (last curated february 2014) | rel=r_associated | relid=0 | w=24
- en:attacks may present during or after sleep --
r_associated #0: 24 / 0.8 ->
oedème facial
n1=en:attacks may present during or after sleep | n2=oedème facial | rel=r_associated | relid=0 | w=24
- en:attacks may present during or after sleep --
r_associated #0: 23 / 0.767 ->
atrophie
n1=en:attacks may present during or after sleep | n2=atrophie | rel=r_associated | relid=0 | w=23
- en:attacks may present during or after sleep --
r_associated #0: 23 / 0.767 ->
en:arthralgia
n1=en:attacks may present during or after sleep | n2=en:arthralgia | rel=r_associated | relid=0 | w=23
- en:attacks may present during or after sleep --
r_associated #0: 23 / 0.767 ->
en:atrophy
n1=en:attacks may present during or after sleep | n2=en:atrophy | rel=r_associated | relid=0 | w=23
- en:attacks may present during or after sleep --
r_associated #0: 23 / 0.767 ->
en:congenital abnormality
n1=en:attacks may present during or after sleep | n2=en:congenital abnormality | rel=r_associated | relid=0 | w=23
- en:attacks may present during or after sleep --
r_associated #0: 23 / 0.767 ->
en:exercise-induced myalgia
n1=en:attacks may present during or after sleep | n2=en:exercise-induced myalgia | rel=r_associated | relid=0 | w=23
- en:attacks may present during or after sleep --
r_associated #0: 23 / 0.767 ->
en:hypertonia
n1=en:attacks may present during or after sleep | n2=en:hypertonia | rel=r_associated | relid=0 | w=23
- en:attacks may present during or after sleep --
r_associated #0: 23 / 0.767 ->
en:multiple prenatal fractures
n1=en:attacks may present during or after sleep | n2=en:multiple prenatal fractures | rel=r_associated | relid=0 | w=23
- en:attacks may present during or after sleep --
r_associated #0: 23 / 0.767 ->
en:muscle hypertrophy
n1=en:attacks may present during or after sleep | n2=en:muscle hypertrophy | rel=r_associated | relid=0 | w=23
- en:attacks may present during or after sleep --
r_associated #0: 23 / 0.767 ->
en:prevalence estimated at 1 in 50,000
n1=en:attacks may present during or after sleep | n2=en:prevalence estimated at 1 in 50,000 | rel=r_associated | relid=0 | w=23
- en:attacks may present during or after sleep --
r_associated #0: 23 / 0.767 ->
en:some patients may lose independent ambulation
n1=en:attacks may present during or after sleep | n2=en:some patients may lose independent ambulation | rel=r_associated | relid=0 | w=23
- en:attacks may present during or after sleep --
r_associated #0: 23 / 0.767 ->
en:two unrelated families have been reported (last curated may 2013)
n1=en:attacks may present during or after sleep | n2=en:two unrelated families have been reported (last curated may 2013) | rel=r_associated | relid=0 | w=23
- en:attacks may present during or after sleep --
r_associated #0: 23 / 0.767 ->
en:variable features present
n1=en:attacks may present during or after sleep | n2=en:variable features present | rel=r_associated | relid=0 | w=23
- en:attacks may present during or after sleep --
r_associated #0: 22 / 0.733 ->
en:phenotypic variation (may affect language expression, reception, and/or articulation)
n1=en:attacks may present during or after sleep | n2=en:phenotypic variation (may affect language expression, reception, and/or articulation) | rel=r_associated | relid=0 | w=22
- en:attacks may present during or after sleep --
r_associated #0: 22 / 0.733 ->
en:poor response to l-dopa
n1=en:attacks may present during or after sleep | n2=en:poor response to l-dopa | rel=r_associated | relid=0 | w=22
- en:attacks may present during or after sleep --
r_associated #0: 22 / 0.733 ->
en:proximal muscle weakness
n1=en:attacks may present during or after sleep | n2=en:proximal muscle weakness | rel=r_associated | relid=0 | w=22
- en:attacks may present during or after sleep --
r_associated #0: 22 / 0.733 ->
en:six patients have been reported (as of october 2011)
n1=en:attacks may present during or after sleep | n2=en:six patients have been reported (as of october 2011) | rel=r_associated | relid=0 | w=22
- en:attacks may present during or after sleep --
r_associated #0: 22 / 0.733 ->
en:subtype 3a comprises myoclonus and dementia
n1=en:attacks may present during or after sleep | n2=en:subtype 3a comprises myoclonus and dementia | rel=r_associated | relid=0 | w=22
- en:attacks may present during or after sleep --
r_associated #0: 22 / 0.733 ->
en:variable age at onset, first to second decades
n1=en:attacks may present during or after sleep | n2=en:variable age at onset, first to second decades | rel=r_associated | relid=0 | w=22
- en:attacks may present during or after sleep --
r_associated #0: 22 / 0.733 ->
en:variable expression
n1=en:attacks may present during or after sleep | n2=en:variable expression | rel=r_associated | relid=0 | w=22
- en:attacks may present during or after sleep --
r_associated #0: 22 / 0.733 ->
en:variable phenotype, particularly with regard to cortical malformations
n1=en:attacks may present during or after sleep | n2=en:variable phenotype, particularly with regard to cortical malformations | rel=r_associated | relid=0 | w=22
- en:attacks may present during or after sleep --
r_associated #0: 21 / 0.7 ->
en:myotonia
n1=en:attacks may present during or after sleep | n2=en:myotonia | rel=r_associated | relid=0 | w=21
- en:attacks may present during or after sleep --
r_associated #0: 21 / 0.7 ->
en:presence of additional features is variable
n1=en:attacks may present during or after sleep | n2=en:presence of additional features is variable | rel=r_associated | relid=0 | w=21
- en:attacks may present during or after sleep --
r_associated #0: 21 / 0.7 ->
en:recurrent bacterial infection
n1=en:attacks may present during or after sleep | n2=en:recurrent bacterial infection | rel=r_associated | relid=0 | w=21
- en:attacks may present during or after sleep --
r_associated #0: 21 / 0.7 ->
en:some patients may show a favorable response to oral coenzyme q10 supplementation
n1=en:attacks may present during or after sleep | n2=en:some patients may show a favorable response to oral coenzyme q10 supplementation | rel=r_associated | relid=0 | w=21
- en:attacks may present during or after sleep --
r_associated #0: 21 / 0.7 ->
en:subset of patients have leigh syndrome (256000)
n1=en:attacks may present during or after sleep | n2=en:subset of patients have leigh syndrome (256000) | rel=r_associated | relid=0 | w=21
- en:attacks may present during or after sleep --
r_associated #0: 21 / 0.7 ->
en:sudden death within first days of life
n1=en:attacks may present during or after sleep | n2=en:sudden death within first days of life | rel=r_associated | relid=0 | w=21
- en:attacks may present during or after sleep --
r_associated #0: 21 / 0.7 ->
en:symptoms precipitated by stress, exertion, fatigue, alcohol
n1=en:attacks may present during or after sleep | n2=en:symptoms precipitated by stress, exertion, fatigue, alcohol | rel=r_associated | relid=0 | w=21
- en:attacks may present during or after sleep --
r_associated #0: 21 / 0.7 ->
en:usually symptomatic in adulthood with history of weakness since infancy or childhood
n1=en:attacks may present during or after sleep | n2=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | rel=r_associated | relid=0 | w=21
- en:attacks may present during or after sleep --
r_associated #0: 21 / 0.7 ->
en:variable age of onset (range 4 months to 45 years)
n1=en:attacks may present during or after sleep | n2=en:variable age of onset (range 4 months to 45 years) | rel=r_associated | relid=0 | w=21
- en:attacks may present during or after sleep --
r_associated #0: 21 / 0.7 ->
faiblesse de muscle
n1=en:attacks may present during or after sleep | n2=faiblesse de muscle | rel=r_associated | relid=0 | w=21
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
algie articulaire
n1=en:attacks may present during or after sleep | n2=algie articulaire | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
anomalie du développement
n1=en:attacks may present during or after sleep | n2=anomalie du développement | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
arthralgie
n1=en:attacks may present during or after sleep | n2=arthralgie | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
atrophie musculaire neurogène
n1=en:attacks may present during or after sleep | n2=atrophie musculaire neurogène | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
atrophie musculaire neurogénique
n1=en:attacks may present during or after sleep | n2=atrophie musculaire neurogénique | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
autophagosome
n1=en:attacks may present during or after sleep | n2=autophagosome | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
bosse de bison
n1=en:attacks may present during or after sleep | n2=bosse de bison | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
contraction clonique
n1=en:attacks may present during or after sleep | n2=contraction clonique | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
cou de bison
n1=en:attacks may present during or after sleep | n2=cou de bison | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
déficience congénitale
n1=en:attacks may present during or after sleep | n2=déficience congénitale | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
déficit en cytochrome oxydase
n1=en:attacks may present during or after sleep | n2=déficit en cytochrome oxydase | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
déficit en cytochrome-c oxydase
n1=en:attacks may present during or after sleep | n2=déficit en cytochrome-c oxydase | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
déformation congénitale
n1=en:attacks may present during or after sleep | n2=déformation congénitale | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
dégénérescence vacuolaire
n1=en:attacks may present during or after sleep | n2=dégénérescence vacuolaire | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
difformité congénitale
n1=en:attacks may present during or after sleep | n2=difformité congénitale | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
douleur articulaire
n1=en:attacks may present during or after sleep | n2=douleur articulaire | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
douleur dans une articulation
n1=en:attacks may present during or after sleep | n2=douleur dans une articulation | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
dysphagia
n1=en:attacks may present during or after sleep | n2=dysphagia | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
dysphagie
n1=en:attacks may present during or after sleep | n2=dysphagie | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
élargissement du polygone de sustentation
n1=en:attacks may present during or after sleep | n2=élargissement du polygone de sustentation | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
empâtement de la nuque et du cou
n1=en:attacks may present during or after sleep | n2=empâtement de la nuque et du cou | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:(3) adult nonnephropathic (219750)
n1=en:attacks may present during or after sleep | n2=en:(3) adult nonnephropathic (219750) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:20% die before age one (usually secondary to renal or laryngeal defects)
n1=en:attacks may present during or after sleep | n2=en:20% die before age one (usually secondary to renal or laryngeal defects) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:50% of cases represent new mutations associated with advanced paternal age
n1=en:attacks may present during or after sleep | n2=en:50% of cases represent new mutations associated with advanced paternal age | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:a milder form has also been reported
n1=en:attacks may present during or after sleep | n2=en:a milder form has also been reported | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:a subset of patients develop bilateral weakness
n1=en:attacks may present during or after sleep | n2=en:a subset of patients develop bilateral weakness | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:a subset of patients have aggravation on cold exposure ('cold paresis')
n1=en:attacks may present during or after sleep | n2=en:a subset of patients have aggravation on cold exposure ('cold paresis') | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:abdominal muscle hypoplasia
n1=en:attacks may present during or after sleep | n2=en:abdominal muscle hypoplasia | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:abdominal wall muscle weakness (later onset)
n1=en:attacks may present during or after sleep | n2=en:abdominal wall muscle weakness (later onset) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:abnormal aggregation of mitochondria
n1=en:attacks may present during or after sleep | n2=en:abnormal aggregation of mitochondria | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:abnormal axons with sprouting and swelling
n1=en:attacks may present during or after sleep | n2=en:abnormal axons with sprouting and swelling | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:abnormal changes in the organization of the sarcolemma and the subsarcolemmal membrane cytoskeleton
n1=en:attacks may present during or after sleep | n2=en:abnormal changes in the organization of the sarcolemma and the subsarcolemmal membrane cytoskeleton | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:abnormal distribution of subcutaneous fat
n1=en:attacks may present during or after sleep | n2=en:abnormal distribution of subcutaneous fat | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:abnormal fat accumulation below the triceps (in some patients)
n1=en:attacks may present during or after sleep | n2=en:abnormal fat accumulation below the triceps (in some patients) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:abnormal fat accumulation in axillae (in some patients)
n1=en:attacks may present during or after sleep | n2=en:abnormal fat accumulation in axillae (in some patients) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:abnormal fat accumulation in the back (in some patients)
n1=en:attacks may present during or after sleep | n2=en:abnormal fat accumulation in the back (in some patients) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:abnormal fat distribution
n1=en:attacks may present during or after sleep | n2=en:abnormal fat distribution | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:abnormal fat pad, buttocks and upper thighs (in some patients)
n1=en:attacks may present during or after sleep | n2=en:abnormal fat pad, buttocks and upper thighs (in some patients) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:abnormal fatigue
n1=en:attacks may present during or after sleep | n2=en:abnormal fatigue | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:abnormal fiber size variation
n1=en:attacks may present during or after sleep | n2=en:abnormal fiber size variation | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:abnormal fiber size variation seen on muscle biopsy
n1=en:attacks may present during or after sleep | n2=en:abnormal fiber size variation seen on muscle biopsy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:abnormal glycosylation of alpha-dystroglycan seen on muscle biopsy
n1=en:attacks may present during or after sleep | n2=en:abnormal glycosylation of alpha-dystroglycan seen on muscle biopsy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:abnormal iron deposition in mitochondria
n1=en:attacks may present during or after sleep | n2=en:abnormal iron deposition in mitochondria | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:abnormal irregular myofibrillar network
n1=en:attacks may present during or after sleep | n2=en:abnormal irregular myofibrillar network | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:abnormal mitochondria
n1=en:attacks may present during or after sleep | n2=en:abnormal mitochondria | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:abnormal mitochondria in skeletal muscle biopsy
n1=en:attacks may present during or after sleep | n2=en:abnormal mitochondria in skeletal muscle biopsy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:abnormal mitochondria with loss of cristae
n1=en:attacks may present during or after sleep | n2=en:abnormal mitochondria with loss of cristae | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:abnormal mitochondria with paracrystalline inclusions seen on muscle biopsy
n1=en:attacks may present during or after sleep | n2=en:abnormal mitochondria with paracrystalline inclusions seen on muscle biopsy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:abnormal mitochondrial morphology
n1=en:attacks may present during or after sleep | n2=en:abnormal mitochondrial morphology | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:abnormal mitochondrial proliferation
n1=en:attacks may present during or after sleep | n2=en:abnormal mitochondrial proliferation | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:abnormal muscle fibers with amorphous, granular, or hyaline deposits
n1=en:attacks may present during or after sleep | n2=en:abnormal muscle fibers with amorphous, granular, or hyaline deposits | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:abnormal sarcoplasmic reticulum elements
n1=en:attacks may present during or after sleep | n2=en:abnormal sarcoplasmic reticulum elements | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:abnormal sensitivity to therapeutic radiation
n1=en:attacks may present during or after sleep | n2=en:abnormal sensitivity to therapeutic radiation | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:abnormal size and shape of synaptic endplates
n1=en:attacks may present during or after sleep | n2=en:abnormal size and shape of synaptic endplates | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:abnormal subcutaneous fat tissue distribution
n1=en:attacks may present during or after sleep | n2=en:abnormal subcutaneous fat tissue distribution | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:abnormal variation in fiber type seen on muscle biopsy
n1=en:attacks may present during or after sleep | n2=en:abnormal variation in fiber type seen on muscle biopsy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:abnormalities in myofibril organization
n1=en:attacks may present during or after sleep | n2=en:abnormalities in myofibril organization | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:about 20% of female mutation carriers may show mild muscle weakness
n1=en:attacks may present during or after sleep | n2=en:about 20% of female mutation carriers may show mild muscle weakness | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:absence of caveolin-3 staining
n1=en:attacks may present during or after sleep | n2=en:absence of caveolin-3 staining | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:absence of gamma-sarcoglycan protein
n1=en:attacks may present during or after sleep | n2=en:absence of gamma-sarcoglycan protein | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:absence of immunostaining for alpha- and beta-dystroglycan (family b)
n1=en:attacks may present during or after sleep | n2=en:absence of immunostaining for alpha- and beta-dystroglycan (family b) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:absence of laminin alpha-2 chain in muscle
n1=en:attacks may present during or after sleep | n2=en:absence of laminin alpha-2 chain in muscle | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:absence of merosin in muscle
n1=en:attacks may present during or after sleep | n2=en:absence of merosin in muscle | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:absence of myotonia in infancy (congenital form)
n1=en:attacks may present during or after sleep | n2=en:absence of myotonia in infancy (congenital form) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:absence of necrosis
n1=en:attacks may present during or after sleep | n2=en:absence of necrosis | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:absence of some scapular muscles (less common)
n1=en:attacks may present during or after sleep | n2=en:absence of some scapular muscles (less common) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:absence of spontaneous activity at birth (severe form)
n1=en:attacks may present during or after sleep | n2=en:absence of spontaneous activity at birth (severe form) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:absence of telethonin protein
n1=en:attacks may present during or after sleep | n2=en:absence of telethonin protein | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:absence seizures show onset between 3.5 and 4 years
n1=en:attacks may present during or after sleep | n2=en:absence seizures show onset between 3.5 and 4 years | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:accelerated decay of the synaptic current
n1=en:attacks may present during or after sleep | n2=en:accelerated decay of the synaptic current | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:accumulated lipid droplets seen on muscle biopsy
n1=en:attacks may present during or after sleep | n2=en:accumulated lipid droplets seen on muscle biopsy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:accumulation of abnormal mitochondria
n1=en:attacks may present during or after sleep | n2=en:accumulation of abnormal mitochondria | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:accumulation of intrasarcoplasmic granulofilamentous aggregates that are immunoreactive to desmin and alpha-beta-crystallin
n1=en:attacks may present during or after sleep | n2=en:accumulation of intrasarcoplasmic granulofilamentous aggregates that are immunoreactive to desmin and alpha-beta-crystallin | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:acetazolamide may worsen symptoms
n1=en:attacks may present during or after sleep | n2=en:acetazolamide may worsen symptoms | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:acquire ability to walk and jump in childhood, but motor regression occurs later
n1=en:attacks may present during or after sleep | n2=en:acquire ability to walk and jump in childhood, but motor regression occurs later | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:acute rhabdomyolysis
n1=en:attacks may present during or after sleep | n2=en:acute rhabdomyolysis | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:adhalin deficiency seen on muscle biopsy
n1=en:attacks may present during or after sleep | n2=en:adhalin deficiency seen on muscle biopsy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:adipose tissue shows many adipocytes with multiple small lipid droplets rather than a normal single lipid droplet
n1=en:attacks may present during or after sleep | n2=en:adipose tissue shows many adipocytes with multiple small lipid droplets rather than a normal single lipid droplet | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:adrenal cytomegaly
n1=en:attacks may present during or after sleep | n2=en:adrenal cytomegaly | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:adrenal insufficiency usually develops later (first decade)
n1=en:attacks may present during or after sleep | n2=en:adrenal insufficiency usually develops later (first decade) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:adult onset
n1=en:attacks may present during or after sleep | n2=en:adult onset | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:adult onset (20 to 50 years)
n1=en:attacks may present during or after sleep | n2=en:adult onset (20 to 50 years) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:adult onset (wide range of age)
n1=en:attacks may present during or after sleep | n2=en:adult onset (wide range of age) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:adult onset from second to seventh decade
n1=en:attacks may present during or after sleep | n2=en:adult onset from second to seventh decade | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:adult onset has been reported
n1=en:attacks may present during or after sleep | n2=en:adult onset has been reported | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:adult onset of neurologic symptoms has been reported in 1 family
n1=en:attacks may present during or after sleep | n2=en:adult onset of neurologic symptoms has been reported in 1 family | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:affected individuals are born with normal-appearing skin and develop scaling a few days after birth
n1=en:attacks may present during or after sleep | n2=en:affected individuals are born with normal-appearing skin and develop scaling a few days after birth | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:affected individuals have a relatively mild ichthyosis phenotype
n1=en:attacks may present during or after sleep | n2=en:affected individuals have a relatively mild ichthyosis phenotype | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:affected individuals may have more than 1 cardiac structural defect, or none at all
n1=en:attacks may present during or after sleep | n2=en:affected individuals may have more than 1 cardiac structural defect, or none at all | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:affected muscles show atrophy
n1=en:attacks may present during or after sleep | n2=en:affected muscles show atrophy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:age at diagnosis 24 +/- 18 years for dominant disease
n1=en:attacks may present during or after sleep | n2=en:age at diagnosis 24 +/- 18 years for dominant disease | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:age at onset 14 to 44 years
n1=en:attacks may present during or after sleep | n2=en:age at onset 14 to 44 years | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:age at onset 8 to 55 years (mean 40 years)
n1=en:attacks may present during or after sleep | n2=en:age at onset 8 to 55 years (mean 40 years) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:age at onset from 3 to 51 years (mean 19.2 years)
n1=en:attacks may present during or after sleep | n2=en:age at onset from 3 to 51 years (mean 19.2 years) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:age of onset between 5 and 10 years of age
n1=en:attacks may present during or after sleep | n2=en:age of onset between 5 and 10 years of age | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:age of onset of distal lower limb weakness 8-16 years
n1=en:attacks may present during or after sleep | n2=en:age of onset of distal lower limb weakness 8-16 years | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:age of onset ranges from 1 to 47 years
n1=en:attacks may present during or after sleep | n2=en:age of onset ranges from 1 to 47 years | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:age of onset usually 1 week to 2 years
n1=en:attacks may present during or after sleep | n2=en:age of onset usually 1 week to 2 years | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:age of onset varies ranging from 3 weeks to 22 years
n1=en:attacks may present during or after sleep | n2=en:age of onset varies ranging from 3 weeks to 22 years | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:age of onset/diagnosis 12-35 years
n1=en:attacks may present during or after sleep | n2=en:age of onset/diagnosis 12-35 years | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:aggregates contain granular electron-dense material
n1=en:attacks may present during or after sleep | n2=en:aggregates contain granular electron-dense material | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:alimentary edema
n1=en:attacks may present during or after sleep | n2=en:alimentary edema | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:all cases sporadic (18 males, 7 females)
n1=en:attacks may present during or after sleep | n2=en:all cases sporadic (18 males, 7 females) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:all features are unilateral
n1=en:attacks may present during or after sleep | n2=en:all features are unilateral | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:all reported mutations have occurred de novo
n1=en:attacks may present during or after sleep | n2=en:all reported mutations have occurred de novo | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:allelic disorder to benign hereditary chorea (118700), which is less severe
n1=en:attacks may present during or after sleep | n2=en:allelic disorder to benign hereditary chorea (118700), which is less severe | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:allelic disorder to choreoathetosis, congenital hypothyroidism, and neonatal respiratory distress (610978), which is a more severe disorder
n1=en:attacks may present during or after sleep | n2=en:allelic disorder to choreoathetosis, congenital hypothyroidism, and neonatal respiratory distress (610978), which is a more severe disorder | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:allelic disorder to early-onset sarcoidosis (609464)
n1=en:attacks may present during or after sleep | n2=en:allelic disorder to early-onset sarcoidosis (609464) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:allelic disorder to potassium-aggravated myotonia (608390)
n1=en:attacks may present during or after sleep | n2=en:allelic disorder to potassium-aggravated myotonia (608390) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:allelic to diastrophic dysplasia (222600), achondrogenesis, type 1b (600972), and multiple epiphyseal dysplasia, type 4 (226900)
n1=en:attacks may present during or after sleep | n2=en:allelic to diastrophic dysplasia (222600), achondrogenesis, type 1b (600972), and multiple epiphyseal dysplasia, type 4 (226900) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:allelic to hydropic and prenatally lethal chondrodystrophy (215140)
n1=en:attacks may present during or after sleep | n2=en:allelic to hydropic and prenatally lethal chondrodystrophy (215140) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:allelic to hypoparathyroidism-retardation-dysmorphism syndrome (241410)
n1=en:attacks may present during or after sleep | n2=en:allelic to hypoparathyroidism-retardation-dysmorphism syndrome (241410) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:allelic to metaphyseal dysplasia without hypotrichosis (250460)
n1=en:attacks may present during or after sleep | n2=en:allelic to metaphyseal dysplasia without hypotrichosis (250460) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:almost complete absence of large diameter fibers
n1=en:attacks may present during or after sleep | n2=en:almost complete absence of large diameter fibers | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:amyloid deposition in muscle fibers occurs rarely
n1=en:attacks may present during or after sleep | n2=en:amyloid deposition in muscle fibers occurs rarely | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:amyotrophy of the lower limbs (in some patients)
n1=en:attacks may present during or after sleep | n2=en:amyotrophy of the lower limbs (in some patients) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:amyotrophy of the upper limbs (in some patients)
n1=en:attacks may present during or after sleep | n2=en:amyotrophy of the upper limbs (in some patients) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:amyotrophy, distal, upper and lower limbs
n1=en:attacks may present during or after sleep | n2=en:amyotrophy, distal, upper and lower limbs | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:amyotrophy, neurogenic
n1=en:attacks may present during or after sleep | n2=en:amyotrophy, neurogenic | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:anasarca
n1=en:attacks may present during or after sleep | n2=en:anasarca | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:and proeminent incisors
n1=en:attacks may present during or after sleep | n2=en:and proeminent incisors | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:anemia is responsive to corticosteroid treatment
n1=en:attacks may present during or after sleep | n2=en:anemia is responsive to corticosteroid treatment | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:angular atrophic fibers
n1=en:attacks may present during or after sleep | n2=en:angular atrophic fibers | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:angular fibers (in some patients)
n1=en:attacks may present during or after sleep | n2=en:angular fibers (in some patients) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:angulated atrophic fibers
n1=en:attacks may present during or after sleep | n2=en:angulated atrophic fibers | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:angulated atrophic muscle fibers
n1=en:attacks may present during or after sleep | n2=en:angulated atrophic muscle fibers | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:angulated fibers
n1=en:attacks may present during or after sleep | n2=en:angulated fibers | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:ankle reflex absent
n1=en:attacks may present during or after sleep | n2=en:ankle reflex absent | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:anterior tibial muscles first involved
n1=en:attacks may present during or after sleep | n2=en:anterior tibial muscles first involved | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:aortic dissection may occur in second decade of life
n1=en:attacks may present during or after sleep | n2=en:aortic dissection may occur in second decade of life | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:apoptotic nuclei
n1=en:attacks may present during or after sleep | n2=en:apoptotic nuclei | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:approximately 40% of cases are inherited or new germline mutations
n1=en:attacks may present during or after sleep | n2=en:approximately 40% of cases are inherited or new germline mutations | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:approximately 50% of patients have situs inversus
n1=en:attacks may present during or after sleep | n2=en:approximately 50% of patients have situs inversus | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:approximately 70-80% of cases are de novo and sporadic
n1=en:attacks may present during or after sleep | n2=en:approximately 70-80% of cases are de novo and sporadic | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:approximately half of the mutations are de novo
n1=en:attacks may present during or after sleep | n2=en:approximately half of the mutations are de novo | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:approximately one-third of patients eventually lose outer hair cell function and have profound sensorineural deafness (after 10 to 20 years)
n1=en:attacks may present during or after sleep | n2=en:approximately one-third of patients eventually lose outer hair cell function and have profound sensorineural deafness (after 10 to 20 years) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:areflexia due to muscle weakness
n1=en:attacks may present during or after sleep | n2=en:areflexia due to muscle weakness | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:arm/shoulder muscle hypoplasia
n1=en:attacks may present during or after sleep | n2=en:arm/shoulder muscle hypoplasia | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:ascending muscle weakness (beginning with feet and legs)
n1=en:attacks may present during or after sleep | n2=en:ascending muscle weakness (beginning with feet and legs) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:ascites (in some patients)
n1=en:attacks may present during or after sleep | n2=en:ascites (in some patients) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:associated with advanced paternal age
n1=en:attacks may present during or after sleep | n2=en:associated with advanced paternal age | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:associated with hemodialysis
n1=en:attacks may present during or after sleep | n2=en:associated with hemodialysis | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:associated with increased frequency of autoimmune diseases
n1=en:attacks may present during or after sleep | n2=en:associated with increased frequency of autoimmune diseases | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:associated with iron deficiency anemia
n1=en:attacks may present during or after sleep | n2=en:associated with iron deficiency anemia | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:associated with smoking
n1=en:attacks may present during or after sleep | n2=en:associated with smoking | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:asymmetric muscle involvement
n1=en:attacks may present during or after sleep | n2=en:asymmetric muscle involvement | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:asymptomatic patients may show changes on sd-oct
n1=en:attacks may present during or after sleep | n2=en:asymptomatic patients may show changes on sd-oct | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:ataxia is nonprogressive
n1=en:attacks may present during or after sleep | n2=en:ataxia is nonprogressive | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:atrophia
n1=en:attacks may present during or after sleep | n2=en:atrophia | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:atrophic calf muscles
n1=en:attacks may present during or after sleep | n2=en:atrophic calf muscles | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:atrophic fibers
n1=en:attacks may present during or after sleep | n2=en:atrophic fibers | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:atrophic muscle fiber on biopsy
n1=en:attacks may present during or after sleep | n2=en:atrophic muscle fiber on biopsy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:atrophic muscle fibers
n1=en:attacks may present during or after sleep | n2=en:atrophic muscle fibers | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:atrophy of ankle and toe extensor (dorsiflexor) muscles
n1=en:attacks may present during or after sleep | n2=en:atrophy of ankle and toe extensor (dorsiflexor) muscles | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:atrophy of anterior compartment tibial muscles
n1=en:attacks may present during or after sleep | n2=en:atrophy of anterior compartment tibial muscles | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:atrophy of neck muscles may occur later
n1=en:attacks may present during or after sleep | n2=en:atrophy of neck muscles may occur later | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:atrophy of shins
n1=en:attacks may present during or after sleep | n2=en:atrophy of shins | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:atrophy of the intrinsic foot and hand muscles
n1=en:attacks may present during or after sleep | n2=en:atrophy of the intrinsic foot and hand muscles | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:atrophy of the lower leg muscles
n1=en:attacks may present during or after sleep | n2=en:atrophy of the lower leg muscles | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:atrophy of the muscles in the anterior compartment of the lower leg
n1=en:attacks may present during or after sleep | n2=en:atrophy of the muscles in the anterior compartment of the lower leg | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:atrophy of the small muscles in the hands and feet
n1=en:attacks may present during or after sleep | n2=en:atrophy of the small muscles in the hands and feet | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:atrophy of the thenar and hypothenar muscles
n1=en:attacks may present during or after sleep | n2=en:atrophy of the thenar and hypothenar muscles | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:atrophy of type 1 and type 2 fibers
n1=en:attacks may present during or after sleep | n2=en:atrophy of type 1 and type 2 fibers | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:atrophy of upper girdle muscles
n1=en:attacks may present during or after sleep | n2=en:atrophy of upper girdle muscles | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:atrophy, mild (in some cases)
n1=en:attacks may present during or after sleep | n2=en:atrophy, mild (in some cases) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:atrophy, neurogenic muscular
n1=en:attacks may present during or after sleep | n2=en:atrophy, neurogenic muscular | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:attacks last 4 to 24 hours
n1=en:attacks may present during or after sleep | n2=en:attacks last 4 to 24 hours | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:attacks more common in women
n1=en:attacks may present during or after sleep | n2=en:attacks more common in women | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:attacks precipitated by cold temperature
n1=en:attacks may present during or after sleep | n2=en:attacks precipitated by cold temperature | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:attacks precipitated by hypokalemia, administration of glucose or insulin, heavy carbohydrate consumption, stress, fatigue, rest after exercise
n1=en:attacks may present during or after sleep | n2=en:attacks precipitated by hypokalemia, administration of glucose or insulin, heavy carbohydrate consumption, stress, fatigue, rest after exercise | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:attacks precipitated by potassium
n1=en:attacks may present during or after sleep | n2=en:attacks precipitated by potassium | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:attacks precipitated by rest after exercise
n1=en:attacks may present during or after sleep | n2=en:attacks precipitated by rest after exercise | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:attacks relieved by potassium administration
n1=en:attacks may present during or after sleep | n2=en:attacks relieved by potassium administration | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:attacks usually decrease or disappear after age 40 years
n1=en:attacks may present during or after sleep | n2=en:attacks usually decrease or disappear after age 40 years | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:autoimmune features are variable
n1=en:attacks may present during or after sleep | n2=en:autoimmune features are variable | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:autophagic rimmed vacuoles
n1=en:attacks may present during or after sleep | n2=en:autophagic rimmed vacuoles | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:autophagic vacuoles seen on biopsy (in some patients)
n1=en:attacks may present during or after sleep | n2=en:autophagic vacuoles seen on biopsy (in some patients) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:autophagic vacuoles with multilamellar structures seen on electron microscopy
n1=en:attacks may present during or after sleep | n2=en:autophagic vacuoles with multilamellar structures seen on electron microscopy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:autophagosome
n1=en:attacks may present during or after sleep | n2=en:autophagosome | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:autosomal recessive disorder tends to be more severe
n1=en:attacks may present during or after sleep | n2=en:autosomal recessive disorder tends to be more severe | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:autosomal recessive form (277720) has also been described
n1=en:attacks may present during or after sleep | n2=en:autosomal recessive form (277720) has also been described | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:autosomal recessive inheritance with earlier onset has been reported in 3 patients
n1=en:attacks may present during or after sleep | n2=en:autosomal recessive inheritance with earlier onset has been reported in 3 patients | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:average age at diagnosis 17.8 years (range 2-35 years)
n1=en:attacks may present during or after sleep | n2=en:average age at diagnosis 17.8 years (range 2-35 years) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:average age at onset between 40 and 50 years
n1=en:attacks may present during or after sleep | n2=en:average age at onset between 40 and 50 years | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:average disease duration of 7 years
n1=en:attacks may present during or after sleep | n2=en:average disease duration of 7 years | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:average onset 6-10 months (range 3-24)
n1=en:attacks may present during or after sleep | n2=en:average onset 6-10 months (range 3-24) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:average onset of seizures 6 months (range 3-12)
n1=en:attacks may present during or after sleep | n2=en:average onset of seizures 6 months (range 3-12) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:axial hypotonia (in some patients)
n1=en:attacks may present during or after sleep | n2=en:axial hypotonia (in some patients) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:axial muscle hyperextension, episodic
n1=en:attacks may present during or after sleep | n2=en:axial muscle hyperextension, episodic | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:axial muscle weakness
n1=en:attacks may present during or after sleep | n2=en:axial muscle weakness | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:axial weakness
n1=en:attacks may present during or after sleep | n2=en:axial weakness | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:based on a report of 4 patients from 2 consanguineous families (last curated august 2015)
n1=en:attacks may present during or after sleep | n2=en:based on a report of 4 patients from 2 consanguineous families (last curated august 2015) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:based on one jordanian family (last curated august 2015)
n1=en:attacks may present during or after sleep | n2=en:based on one jordanian family (last curated august 2015) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:based on one large dutch family (last curated august 2015)
n1=en:attacks may present during or after sleep | n2=en:based on one large dutch family (last curated august 2015) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:based on one sib pair each in their seventies
n1=en:attacks may present during or after sleep | n2=en:based on one sib pair each in their seventies | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:based on report of 2 individuals (last curated november 2013)
n1=en:attacks may present during or after sleep | n2=en:based on report of 2 individuals (last curated november 2013) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:based on report of 2 sibs in 2008
n1=en:attacks may present during or after sleep | n2=en:based on report of 2 sibs in 2008 | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:based on report of 2 unrelated patients
n1=en:attacks may present during or after sleep | n2=en:based on report of 2 unrelated patients | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:based on report of 4 patients from 1 family (last curated july 2015)
n1=en:attacks may present during or after sleep | n2=en:based on report of 4 patients from 1 family (last curated july 2015) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:benign soft tissue developmental anomalies
n1=en:attacks may present during or after sleep | n2=en:benign soft tissue developmental anomalies | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:biceps aplasia
n1=en:attacks may present during or after sleep | n2=en:biceps aplasia | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:biceps brachii atrophy
n1=en:attacks may present during or after sleep | n2=en:biceps brachii atrophy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:bilateral facial weakness (congenital form)
n1=en:attacks may present during or after sleep | n2=en:bilateral facial weakness (congenital form) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:bilateral foot drop
n1=en:attacks may present during or after sleep | n2=en:bilateral foot drop | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:biopsy muscle normal
n1=en:attacks may present during or after sleep | n2=en:biopsy muscle normal | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:biopsy of adipose tissue shows reduced adipocyte size
n1=en:attacks may present during or after sleep | n2=en:biopsy of adipose tissue shows reduced adipocyte size | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:biopsy shows defects in pyruvate oxidation
n1=en:attacks may present during or after sleep | n2=en:biopsy shows defects in pyruvate oxidation | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:biopsy shows dystrophic changes
n1=en:attacks may present during or after sleep | n2=en:biopsy shows dystrophic changes | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:biopsy shows myopathic and dystrophic changes
n1=en:attacks may present during or after sleep | n2=en:biopsy shows myopathic and dystrophic changes | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:biopsy shows myopathy without vacuoles
n1=en:attacks may present during or after sleep | n2=en:biopsy shows myopathy without vacuoles | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:biopsy shows nonspecific myopathy without rimmed vacuoles
n1=en:attacks may present during or after sleep | n2=en:biopsy shows nonspecific myopathy without rimmed vacuoles | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:biopsy shows rimmed vacuoles, central nuclei, and variation in fiber size
n1=en:attacks may present during or after sleep | n2=en:biopsy shows rimmed vacuoles, central nuclei, and variation in fiber size | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:birth defect
n1=en:attacks may present during or after sleep | n2=en:birth defect | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:bleeding is usually delayed-onset after challenge
n1=en:attacks may present during or after sleep | n2=en:bleeding is usually delayed-onset after challenge | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:blistering may worsen during the summer
n1=en:attacks may present during or after sleep | n2=en:blistering may worsen during the summer | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:blisters are precipitated by minor skin trauma
n1=en:attacks may present during or after sleep | n2=en:blisters are precipitated by minor skin trauma | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:both autosomal dominant and autosomal recessive inheritance has been described
n1=en:attacks may present during or after sleep | n2=en:both autosomal dominant and autosomal recessive inheritance has been described | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:both mutations occurred de novo
n1=en:attacks may present during or after sleep | n2=en:both mutations occurred de novo | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:both type 1 and type 2 fiber predominance has been reported
n1=en:attacks may present during or after sleep | n2=en:both type 1 and type 2 fiber predominance has been reported | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:boys are more often affected than girls (3:2)
n1=en:attacks may present during or after sleep | n2=en:boys are more often affected than girls (3:2) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:breech presentation
n1=en:attacks may present during or after sleep | n2=en:breech presentation | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:broad-based gait
n1=en:attacks may present during or after sleep | n2=en:broad-based gait | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:buffalo hump
n1=en:attacks may present during or after sleep | n2=en:buffalo hump | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:buffalo hump (rare)
n1=en:attacks may present during or after sleep | n2=en:buffalo hump (rare) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:by fourth decade, many patients need help with ambulation
n1=en:attacks may present during or after sleep | n2=en:by fourth decade, many patients need help with ambulation | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:calcific tendinopathy, early-onset (in some patients)
n1=en:attacks may present during or after sleep | n2=en:calcific tendinopathy, early-onset (in some patients) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:calf and thigh cramping muscle pains
n1=en:attacks may present during or after sleep | n2=en:calf and thigh cramping muscle pains | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:calf atrophy (later onset)
n1=en:attacks may present during or after sleep | n2=en:calf atrophy (later onset) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:calf hypertrophy (early in the disease)
n1=en:attacks may present during or after sleep | n2=en:calf hypertrophy (early in the disease) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:calf hypertrophy (in some patients)
n1=en:attacks may present during or after sleep | n2=en:calf hypertrophy (in some patients) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:calf hypertrophy (less common)
n1=en:attacks may present during or after sleep | n2=en:calf hypertrophy (less common) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:calf hypertrophy (reported in 1 family)
n1=en:attacks may present during or after sleep | n2=en:calf hypertrophy (reported in 1 family) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:calf hypertrophy (uncommon)
n1=en:attacks may present during or after sleep | n2=en:calf hypertrophy (uncommon) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:calf muscle discomfort
n1=en:attacks may present during or after sleep | n2=en:calf muscle discomfort | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:calf muscle enlargement
n1=en:attacks may present during or after sleep | n2=en:calf muscle enlargement | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:calf muscle hypertrophy
n1=en:attacks may present during or after sleep | n2=en:calf muscle hypertrophy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:calf muscle hypoplasia
n1=en:attacks may present during or after sleep | n2=en:calf muscle hypoplasia | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:calf muscle pseudohypertrophy
n1=en:attacks may present during or after sleep | n2=en:calf muscle pseudohypertrophy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:calf pseudohypertrophy rare
n1=en:attacks may present during or after sleep | n2=en:calf pseudohypertrophy rare | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:can also be caused by contiguous gene deletion on chromosome 22q11.2
n1=en:attacks may present during or after sleep | n2=en:can also be caused by contiguous gene deletion on chromosome 22q11.2 | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:cardiac examination is usually unremarkable
n1=en:attacks may present during or after sleep | n2=en:cardiac examination is usually unremarkable | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:cardiomyopathy is not a feature
n1=en:attacks may present during or after sleep | n2=en:cardiomyopathy is not a feature | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:carrier females may have mild intellectual disability
n1=en:attacks may present during or after sleep | n2=en:carrier females may have mild intellectual disability | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:carrier females show no phenotypic abnormalities, but may have learning difficulties
n1=en:attacks may present during or after sleep | n2=en:carrier females show no phenotypic abnormalities, but may have learning difficulties | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:caused by inheritance of the mutation on the paternal allele (imprinting)
n1=en:attacks may present during or after sleep | n2=en:caused by inheritance of the mutation on the paternal allele (imprinting) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:caused by somatic mutations
n1=en:attacks may present during or after sleep | n2=en:caused by somatic mutations | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:cellulitis or infection may occur
n1=en:attacks may present during or after sleep | n2=en:cellulitis or infection may occur | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:central cores seen on muscle biopsy
n1=en:attacks may present during or after sleep | n2=en:central cores seen on muscle biopsy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:central nuclei
n1=en:attacks may present during or after sleep | n2=en:central nuclei | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:centralized myonuclei
n1=en:attacks may present during or after sleep | n2=en:centralized myonuclei | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:centralized nuclei may be seen
n1=en:attacks may present during or after sleep | n2=en:centralized nuclei may be seen | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:centralized nuclei, rare
n1=en:attacks may present during or after sleep | n2=en:centralized nuclei, rare | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:centrally located nuclei seen on muscle biopsy
n1=en:attacks may present during or after sleep | n2=en:centrally located nuclei seen on muscle biopsy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:changes in sarcoplasmic reticulum and t-tubules
n1=en:attacks may present during or after sleep | n2=en:changes in sarcoplasmic reticulum and t-tubules | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:chelation therapy can result in clinical improvement
n1=en:attacks may present during or after sleep | n2=en:chelation therapy can result in clinical improvement | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:child often can sit unsupported but never ambulates
n1=en:attacks may present during or after sleep | n2=en:child often can sit unsupported but never ambulates | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:childhood onset
n1=en:attacks may present during or after sleep | n2=en:childhood onset | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:childhood or adolescent onset (usually less than 25 years)
n1=en:attacks may present during or after sleep | n2=en:childhood or adolescent onset (usually less than 25 years) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:chronic course with exacerbations and remissions
n1=en:attacks may present during or after sleep | n2=en:chronic course with exacerbations and remissions | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:chronic denervation seen on skeletal muscle biopsy
n1=en:attacks may present during or after sleep | n2=en:chronic denervation seen on skeletal muscle biopsy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:chronic neurogenic changes seen on emg
n1=en:attacks may present during or after sleep | n2=en:chronic neurogenic changes seen on emg | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:chronic weakness
n1=en:attacks may present during or after sleep | n2=en:chronic weakness | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:classic severe form shows onset at 2 to 3 months of age
n1=en:attacks may present during or after sleep | n2=en:classic severe form shows onset at 2 to 3 months of age | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:clinical and biochemical abnormalities disappear with age
n1=en:attacks may present during or after sleep | n2=en:clinical and biochemical abnormalities disappear with age | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:clinical presentation varies from asymptomatic to fulminant course
n1=en:attacks may present during or after sleep | n2=en:clinical presentation varies from asymptomatic to fulminant course | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:clinical spectrum in males ranges from lethal neonatal onset to milder forms with first recognized episode in late childhood or even in adulthood
n1=en:attacks may present during or after sleep | n2=en:clinical spectrum in males ranges from lethal neonatal onset to milder forms with first recognized episode in late childhood or even in adulthood | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:clinical variability, both pure and complicated forms
n1=en:attacks may present during or after sleep | n2=en:clinical variability, both pure and complicated forms | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:clinically 'silent' nystagmus evident on eye movement recording in carrier females
n1=en:attacks may present during or after sleep | n2=en:clinically 'silent' nystagmus evident on eye movement recording in carrier females | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:clinically resembles essential tremor, but not responsive to beta-adrenergic blockers
n1=en:attacks may present during or after sleep | n2=en:clinically resembles essential tremor, but not responsive to beta-adrenergic blockers | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:clonidine can alleviate hyperhidrosis
n1=en:attacks may present during or after sleep | n2=en:clonidine can alleviate hyperhidrosis | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:clumsiness
n1=en:attacks may present during or after sleep | n2=en:clumsiness | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:cold-induced sweating develops late in the first decade
n1=en:attacks may present during or after sleep | n2=en:cold-induced sweating develops late in the first decade | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:coloboma is associated with larger microdeletion (490kb) of 11q13
n1=en:attacks may present during or after sleep | n2=en:coloboma is associated with larger microdeletion (490kb) of 11q13 | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:color vision defects may not be part of the phenotype
n1=en:attacks may present during or after sleep | n2=en:color vision defects may not be part of the phenotype | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:combined mitochondrial respiratory chain deficiency (in most patients)
n1=en:attacks may present during or after sleep | n2=en:combined mitochondrial respiratory chain deficiency (in most patients) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:compound heterozygosity common
n1=en:attacks may present during or after sleep | n2=en:compound heterozygosity common | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:condition is experienced by patients as harmless and is often discovered incidentally
n1=en:attacks may present during or after sleep | n2=en:condition is experienced by patients as harmless and is often discovered incidentally | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:cone-shaped epiphyses appear in early childhood and disappear with premature fusion of growth plate before puberty
n1=en:attacks may present during or after sleep | n2=en:cone-shaped epiphyses appear in early childhood and disappear with premature fusion of growth plate before puberty | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:congenital absence of gluteal muscles
n1=en:attacks may present during or after sleep | n2=en:congenital absence of gluteal muscles | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:congenital anomaly
n1=en:attacks may present during or after sleep | n2=en:congenital anomaly | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:congenital defect
n1=en:attacks may present during or after sleep | n2=en:congenital defect | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:congenital malformation
n1=en:attacks may present during or after sleep | n2=en:congenital malformation | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:congenital myasthenic syndrome (reported in 1 patient who survived to age 20 years)
n1=en:attacks may present during or after sleep | n2=en:congenital myasthenic syndrome (reported in 1 patient who survived to age 20 years) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:congenital onset
n1=en:attacks may present during or after sleep | n2=en:congenital onset | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:congenital, nonprogressive myopathy
n1=en:attacks may present during or after sleep | n2=en:congenital, nonprogressive myopathy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:congophilic amyloid material
n1=en:attacks may present during or after sleep | n2=en:congophilic amyloid material | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:congophilic deposits
n1=en:attacks may present during or after sleep | n2=en:congophilic deposits | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:congophilic eosinophilic inclusions
n1=en:attacks may present during or after sleep | n2=en:congophilic eosinophilic inclusions | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:congophilic inclusions
n1=en:attacks may present during or after sleep | n2=en:congophilic inclusions | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:congophilic staining
n1=en:attacks may present during or after sleep | n2=en:congophilic staining | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:contractures of distal lower limbs
n1=en:attacks may present during or after sleep | n2=en:contractures of distal lower limbs | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:contractures of upper limbs (in some patients)
n1=en:attacks may present during or after sleep | n2=en:contractures of upper limbs (in some patients) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:contractures other than plantar are less common and less severe
n1=en:attacks may present during or after sleep | n2=en:contractures other than plantar are less common and less severe | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:cores contain densely packed myofilaments
n1=en:attacks may present during or after sleep | n2=en:cores contain densely packed myofilaments | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:cores extend along length of muscle fiber
n1=en:attacks may present during or after sleep | n2=en:cores extend along length of muscle fiber | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:cores have abrupt borders within normal regions of the muscle fiber
n1=en:attacks may present during or after sleep | n2=en:cores have abrupt borders within normal regions of the muscle fiber | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:cores or minicores
n1=en:attacks may present during or after sleep | n2=en:cores or minicores | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:cores with lack of oxidative activity and mitochondrial depletion may also be found and extend along length of fiber
n1=en:attacks may present during or after sleep | n2=en:cores with lack of oxidative activity and mitochondrial depletion may also be found and extend along length of fiber | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:cox-negative fibers seen on muscle biopsy
n1=en:attacks may present during or after sleep | n2=en:cox-negative fibers seen on muscle biopsy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:cranial muscles spared
n1=en:attacks may present during or after sleep | n2=en:cranial muscles spared | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:cutaneous symptoms induced by cold exposure or cooling
n1=en:attacks may present during or after sleep | n2=en:cutaneous symptoms induced by cold exposure or cooling | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:cytochrome c oxidase-negative fibers
n1=en:attacks may present during or after sleep | n2=en:cytochrome c oxidase-negative fibers | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:cytoplasmic inclusion bodies (finding)
n1=en:attacks may present during or after sleep | n2=en:cytoplasmic inclusion bodies (finding) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:deafferentation
n1=en:attacks may present during or after sleep | n2=en:deafferentation | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:deafness tends to occur before other neurologic signs, except in patients with very early onset
n1=en:attacks may present during or after sleep | n2=en:deafness tends to occur before other neurologic signs, except in patients with very early onset | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:death before age 40
n1=en:attacks may present during or after sleep | n2=en:death before age 40 | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:death due to rapidly progressive pulmonary fibrosis in infancy
n1=en:attacks may present during or after sleep | n2=en:death due to rapidly progressive pulmonary fibrosis in infancy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:death due to respiratory insufficiency within minutes to hours after birth
n1=en:attacks may present during or after sleep | n2=en:death due to respiratory insufficiency within minutes to hours after birth | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:death from pneumonia
n1=en:attacks may present during or after sleep | n2=en:death from pneumonia | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:death in childhood may occur due to end-stage renal disease
n1=en:attacks may present during or after sleep | n2=en:death in childhood may occur due to end-stage renal disease | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:death in early childhood may occur
n1=en:attacks may present during or after sleep | n2=en:death in early childhood may occur | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:death in fourth to fifth decade
n1=en:attacks may present during or after sleep | n2=en:death in fourth to fifth decade | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:death in infancy in 2 patients
n1=en:attacks may present during or after sleep | n2=en:death in infancy in 2 patients | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:death in infancy secondary to respiratory insufficiency/pneumonia
n1=en:attacks may present during or after sleep | n2=en:death in infancy secondary to respiratory insufficiency/pneumonia | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:death in majority of infants soon after birth
n1=en:attacks may present during or after sleep | n2=en:death in majority of infants soon after birth | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:death in perinatal period
n1=en:attacks may present during or after sleep | n2=en:death in perinatal period | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:death in the first years of life
n1=en:attacks may present during or after sleep | n2=en:death in the first years of life | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:death in third or fourth decades, usually due to respiratory infection
n1=en:attacks may present during or after sleep | n2=en:death in third or fourth decades, usually due to respiratory infection | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:death in utero or in early infancy is common
n1=en:attacks may present during or after sleep | n2=en:death in utero or in early infancy is common | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:death may occur in infancy
n1=en:attacks may present during or after sleep | n2=en:death may occur in infancy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:death often in the teenage years
n1=en:attacks may present during or after sleep | n2=en:death often in the teenage years | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:death often occurs in childhood
n1=en:attacks may present during or after sleep | n2=en:death often occurs in childhood | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:death secondary to renal failure, cardiac or cerebrovascular disease
n1=en:attacks may present during or after sleep | n2=en:death secondary to renal failure, cardiac or cerebrovascular disease | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:death secondary to respiratory infection or failure before age 2 years
n1=en:attacks may present during or after sleep | n2=en:death secondary to respiratory infection or failure before age 2 years | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:death usually in childhood
n1=en:attacks may present during or after sleep | n2=en:death usually in childhood | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:death usually in first year of life
n1=en:attacks may present during or after sleep | n2=en:death usually in first year of life | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:death usually in infancy due to respiratory failure
n1=en:attacks may present during or after sleep | n2=en:death usually in infancy due to respiratory failure | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:death usually in newborn period or infancy
n1=en:attacks may present during or after sleep | n2=en:death usually in newborn period or infancy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:decreased ability to run
n1=en:attacks may present during or after sleep | n2=en:decreased ability to run | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:decreased achr
n1=en:attacks may present during or after sleep | n2=en:decreased achr | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:decreased activities of mitochondrial-encoded respiratory chain complexes
n1=en:attacks may present during or after sleep | n2=en:decreased activities of mitochondrial-encoded respiratory chain complexes | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:decreased activities of several mitochondrial respiratory enzymes
n1=en:attacks may present during or after sleep | n2=en:decreased activities of several mitochondrial respiratory enzymes | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:decreased activity of cytochrome c oxidase (in most cases)
n1=en:attacks may present during or after sleep | n2=en:decreased activity of cytochrome c oxidase (in most cases) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:decreased activity of cytochrome c oxidase in most cases seen on muscle biopsy
n1=en:attacks may present during or after sleep | n2=en:decreased activity of cytochrome c oxidase in most cases seen on muscle biopsy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:decreased activity of cytochrome c oxidase seen on muscle biopsy
n1=en:attacks may present during or after sleep | n2=en:decreased activity of cytochrome c oxidase seen on muscle biopsy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:decreased activity of mitochondrial complex i
n1=en:attacks may present during or after sleep | n2=en:decreased activity of mitochondrial complex i | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:decreased activity of multiple mitochondrial respiratory complex enzymes
n1=en:attacks may present during or after sleep | n2=en:decreased activity of multiple mitochondrial respiratory complex enzymes | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:decreased adipose tissue around neck
n1=en:attacks may present during or after sleep | n2=en:decreased adipose tissue around neck | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:decreased atp production
n1=en:attacks may present during or after sleep | n2=en:decreased atp production | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:decreased caveolae in muscle tissue
n1=en:attacks may present during or after sleep | n2=en:decreased caveolae in muscle tissue | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:decreased caveolin-3 expression on muscle biopsy
n1=en:attacks may present during or after sleep | n2=en:decreased caveolin-3 expression on muscle biopsy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:decreased caveolin-3 expression seen on muscle biopsy
n1=en:attacks may present during or after sleep | n2=en:decreased caveolin-3 expression seen on muscle biopsy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:decreased cytochrome c oxidase activity
n1=en:attacks may present during or after sleep | n2=en:decreased cytochrome c oxidase activity | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:decreased cytochrome c oxidase staining
n1=en:attacks may present during or after sleep | n2=en:decreased cytochrome c oxidase staining | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:decreased density of calcium release units
n1=en:attacks may present during or after sleep | n2=en:decreased density of calcium release units | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:decreased distal reflexes
n1=en:attacks may present during or after sleep | n2=en:decreased distal reflexes | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:decreased endplate potential and amplitudes
n1=en:attacks may present during or after sleep | n2=en:decreased endplate potential and amplitudes | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:decreased glutamate oxidation (about 63% of normal)
n1=en:attacks may present during or after sleep | n2=en:decreased glutamate oxidation (about 63% of normal) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:decreased glycosylation of alpha-dystroglycan
n1=en:attacks may present during or after sleep | n2=en:decreased glycosylation of alpha-dystroglycan | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:decreased glycosylation of alpha-dystroglycan seen on muscle biopsy
n1=en:attacks may present during or after sleep | n2=en:decreased glycosylation of alpha-dystroglycan seen on muscle biopsy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:decreased hand grip strength
n1=en:attacks may present during or after sleep | n2=en:decreased hand grip strength | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:decreased immunostaining for alpha-sarcoglycan
n1=en:attacks may present during or after sleep | n2=en:decreased immunostaining for alpha-sarcoglycan | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:decreased lactate clearance from muscle after exercise (reported in 1 patient)
n1=en:attacks may present during or after sleep | n2=en:decreased lactate clearance from muscle after exercise (reported in 1 patient) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:decreased lipoic acid
n1=en:attacks may present during or after sleep | n2=en:decreased lipoic acid | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:decreased miniature endplate potential (mepp) and current (mepc)
n1=en:attacks may present during or after sleep | n2=en:decreased miniature endplate potential (mepp) and current (mepc) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:decreased mitochondria
n1=en:attacks may present during or after sleep | n2=en:decreased mitochondria | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:decreased mitochondrial respiratory activities (in some patients)
n1=en:attacks may present during or after sleep | n2=en:decreased mitochondrial respiratory activities (in some patients) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:decreased muscle action potential after warming affected muscle
n1=en:attacks may present during or after sleep | n2=en:decreased muscle action potential after warming affected muscle | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:decreased muscle bulk
n1=en:attacks may present during or after sleep | n2=en:decreased muscle bulk | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:decreased muscle bulk (in one patient)
n1=en:attacks may present during or after sleep | n2=en:decreased muscle bulk (in one patient) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:decreased muscle density on imaging
n1=en:attacks may present during or after sleep | n2=en:decreased muscle density on imaging | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:decreased muscle mass
n1=en:attacks may present during or after sleep | n2=en:decreased muscle mass | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:decreased muscle mass (especially in lower limbs)
n1=en:attacks may present during or after sleep | n2=en:decreased muscle mass (especially in lower limbs) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:decreased muscle mass (especially of limbs)
n1=en:attacks may present during or after sleep | n2=en:decreased muscle mass (especially of limbs) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:decreased muscle mass (predominantly in lower extremities)
n1=en:attacks may present during or after sleep | n2=en:decreased muscle mass (predominantly in lower extremities) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:decreased muscle mass, especially distally
n1=en:attacks may present during or after sleep | n2=en:decreased muscle mass, especially distally | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:decreased muscle mitochondrial aconitase
n1=en:attacks may present during or after sleep | n2=en:decreased muscle mitochondrial aconitase | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:decreased muscle succinate dehydrogenase
n1=en:attacks may present during or after sleep | n2=en:decreased muscle succinate dehydrogenase | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:decreased numbers of acetylcholine receptors (achr) in the postsynaptic membrane (less than 50% of normal)
n1=en:attacks may present during or after sleep | n2=en:decreased numbers of acetylcholine receptors (achr) in the postsynaptic membrane (less than 50% of normal) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:decreased numbers of achr seen on muscle biopsy
n1=en:attacks may present during or after sleep | n2=en:decreased numbers of achr seen on muscle biopsy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:decreased numbers of postsynaptic nerve terminals at the neuromuscular junction
n1=en:attacks may present during or after sleep | n2=en:decreased numbers of postsynaptic nerve terminals at the neuromuscular junction | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:decreased or patchy amounts of alpha-dystrobrevin and beta-2-syntrophin at the sarcolemma
n1=en:attacks may present during or after sleep | n2=en:decreased or patchy amounts of alpha-dystrobrevin and beta-2-syntrophin at the sarcolemma | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:decreased postsynaptic folding at the neuromuscular junction
n1=en:attacks may present during or after sleep | n2=en:decreased postsynaptic folding at the neuromuscular junction | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:decreased postsynaptic length
n1=en:attacks may present during or after sleep | n2=en:decreased postsynaptic length | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:decreased quantal release
n1=en:attacks may present during or after sleep | n2=en:decreased quantal release | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:decreased shank muscle mass
n1=en:attacks may present during or after sleep | n2=en:decreased shank muscle mass | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:decreased spontaneous miniature endplate potentials (mepp)
n1=en:attacks may present during or after sleep | n2=en:decreased spontaneous miniature endplate potentials (mepp) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:decreased thiamine pyrophosphate
n1=en:attacks may present during or after sleep | n2=en:decreased thiamine pyrophosphate | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:decrement of the compound muscle action potential on repetitive stimulation
n1=en:attacks may present during or after sleep | n2=en:decrement of the compound muscle action potential on repetitive stimulation | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:decremental cmap response to repetitive nerve stimulation
n1=en:attacks may present during or after sleep | n2=en:decremental cmap response to repetitive nerve stimulation | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:decremental cmap response to repetitive nerve stimulation seen on emg
n1=en:attacks may present during or after sleep | n2=en:decremental cmap response to repetitive nerve stimulation seen on emg | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:decremental compound muscle action potential (cmap) in response to repetitive nerve stimulation seen on emg
n1=en:attacks may present during or after sleep | n2=en:decremental compound muscle action potential (cmap) in response to repetitive nerve stimulation seen on emg | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:decremental compound muscle action potential on repetitive stimulation
n1=en:attacks may present during or after sleep | n2=en:decremental compound muscle action potential on repetitive stimulation | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:decremental response of compound muscle action potential on repetitive nerve stimulation
n1=en:attacks may present during or after sleep | n2=en:decremental response of compound muscle action potential on repetitive nerve stimulation | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:decremental response to repetitive stimulation at neuromuscular junction
n1=en:attacks may present during or after sleep | n2=en:decremental response to repetitive stimulation at neuromuscular junction | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:deep finger muscle weakness
n1=en:attacks may present during or after sleep | n2=en:deep finger muscle weakness | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:defect in glycosylation of alpha-dystroglycan seen on skeletal muscle biopsy
n1=en:attacks may present during or after sleep | n2=en:defect in glycosylation of alpha-dystroglycan seen on skeletal muscle biopsy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:defective glycosylation of alpha-dystroglycan seen on biopsy
n1=en:attacks may present during or after sleep | n2=en:defective glycosylation of alpha-dystroglycan seen on biopsy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:defective mitochondrial oxidative phosphorylation of multiple enzymes
n1=en:attacks may present during or after sleep | n2=en:defective mitochondrial oxidative phosphorylation of multiple enzymes | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:defects in lipoate-containing mitochondrial enzyme complexes
n1=en:attacks may present during or after sleep | n2=en:defects in lipoate-containing mitochondrial enzyme complexes | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:deficiency of mitochondrial respiratory enzymes seen on muscle biopsy
n1=en:attacks may present during or after sleep | n2=en:deficiency of mitochondrial respiratory enzymes seen on muscle biopsy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:degenerating fibers
n1=en:attacks may present during or after sleep | n2=en:degenerating fibers | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:degenerating junctional folds
n1=en:attacks may present during or after sleep | n2=en:degenerating junctional folds | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:degenerating nerve terminals
n1=en:attacks may present during or after sleep | n2=en:degenerating nerve terminals | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:degeneration of junctional folds
n1=en:attacks may present during or after sleep | n2=en:degeneration of junctional folds | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:degenerative changes with increased connective tissue
n1=en:attacks may present during or after sleep | n2=en:degenerative changes with increased connective tissue | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:degrading mitochondria
n1=en:attacks may present during or after sleep | n2=en:degrading mitochondria | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:deltoid muscle hypoplasia
n1=en:attacks may present during or after sleep | n2=en:deltoid muscle hypoplasia | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:denervation of skeletal muscles
n1=en:attacks may present during or after sleep | n2=en:denervation of skeletal muscles | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:dense membranous structure surrounding nuclei on electron microscopy
n1=en:attacks may present during or after sleep | n2=en:dense membranous structure surrounding nuclei on electron microscopy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:denuded postsynaptic regions
n1=en:attacks may present during or after sleep | n2=en:denuded postsynaptic regions | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:dependent edema after excess fat has been present for several years
n1=en:attacks may present during or after sleep | n2=en:dependent edema after excess fat has been present for several years | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:deposits immunoreactive to beta-amyloid protein
n1=en:attacks may present during or after sleep | n2=en:deposits immunoreactive to beta-amyloid protein | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:deposits may recur in graft after corneal transplantation
n1=en:attacks may present during or after sleep | n2=en:deposits may recur in graft after corneal transplantation | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:dermal or subcutaneous infiltrate of spindle-shaped cells arranged in a whorled pattern seen on histology
n1=en:attacks may present during or after sleep | n2=en:dermal or subcutaneous infiltrate of spindle-shaped cells arranged in a whorled pattern seen on histology | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:developmental anomaly
n1=en:attacks may present during or after sleep | n2=en:developmental anomaly | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:developmental fault
n1=en:attacks may present during or after sleep | n2=en:developmental fault | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:diagnosis made when at least 2/3 features present (optic nerve hypoplasia, hypopituitarism with pituitary hypoplasia, midline forebrain defects)
n1=en:attacks may present during or after sleep | n2=en:diagnosis made when at least 2/3 features present (optic nerve hypoplasia, hypopituitarism with pituitary hypoplasia, midline forebrain defects) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:diagnosis requires 3 major features (a positive family history is also considered a major feature) and at least 3 minor features
n1=en:attacks may present during or after sleep | n2=en:diagnosis requires 3 major features (a positive family history is also considered a major feature) and at least 3 minor features | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:diagnosis within the first 3 months of life
n1=en:attacks may present during or after sleep | n2=en:diagnosis within the first 3 months of life | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:diarrhea worsens in parallel with increases in severity of skin disease
n1=en:attacks may present during or after sleep | n2=en:diarrhea worsens in parallel with increases in severity of skin disease | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:difficulty climbing stairs, jumping, running
n1=en:attacks may present during or after sleep | n2=en:difficulty climbing stairs, jumping, running | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:difficulty in toe walking
n1=en:attacks may present during or after sleep | n2=en:difficulty in toe walking | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:difficulty raising arms
n1=en:attacks may present during or after sleep | n2=en:difficulty raising arms | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:difficulty rising from a squatting position
n1=en:attacks may present during or after sleep | n2=en:difficulty rising from a squatting position | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:difficulty rising from chair
n1=en:attacks may present during or after sleep | n2=en:difficulty rising from chair | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:difficulty running and jumping
n1=en:attacks may present during or after sleep | n2=en:difficulty running and jumping | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:difficulty running or inability to run
n1=en:attacks may present during or after sleep | n2=en:difficulty running or inability to run | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:difficulty walking and climbing stairs (patient a)
n1=en:attacks may present during or after sleep | n2=en:difficulty walking and climbing stairs (patient a) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:difficulty walking on heels occurs prior to difficulty walking on toes
n1=en:attacks may present during or after sleep | n2=en:difficulty walking on heels occurs prior to difficulty walking on toes | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:difficulty walking up stairs
n1=en:attacks may present during or after sleep | n2=en:difficulty walking up stairs | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:difficulty walking, running, climbing stairs
n1=en:attacks may present during or after sleep | n2=en:difficulty walking, running, climbing stairs | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:disarray of mitochondrial cristae seen on muscle biopsy
n1=en:attacks may present during or after sleep | n2=en:disarray of mitochondrial cristae seen on muscle biopsy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:discordant phenotype among monozygotic twins has been reported
n1=en:attacks may present during or after sleep | n2=en:discordant phenotype among monozygotic twins has been reported | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:disease shows slow progression
n1=en:attacks may present during or after sleep | n2=en:disease shows slow progression | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:disorganization of the myofibrillar pattern
n1=en:attacks may present during or after sleep | n2=en:disorganization of the myofibrillar pattern | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:disorganization of the neuromuscular junction
n1=en:attacks may present during or after sleep | n2=en:disorganization of the neuromuscular junction | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:disorganized myofilaments seen on muscle biopsy
n1=en:attacks may present during or after sleep | n2=en:disorganized myofilaments seen on muscle biopsy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:disruption in the basal lamina seen on skeletal muscle biopsy
n1=en:attacks may present during or after sleep | n2=en:disruption in the basal lamina seen on skeletal muscle biopsy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:disruption of the sarcolemmal membrane seen on muscle biopsy
n1=en:attacks may present during or after sleep | n2=en:disruption of the sarcolemmal membrane seen on muscle biopsy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:disruption plasma membrane (in some patients)
n1=en:attacks may present during or after sleep | n2=en:disruption plasma membrane (in some patients) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:distal amyotrophy (hands and feet)
n1=en:attacks may present during or after sleep | n2=en:distal amyotrophy (hands and feet) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:distal atrophy of the legs
n1=en:attacks may present during or after sleep | n2=en:distal atrophy of the legs | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:distal leg muscle atrophy
n1=en:attacks may present during or after sleep | n2=en:distal leg muscle atrophy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:distal limb atrophy (upper and lower)
n1=en:attacks may present during or after sleep | n2=en:distal limb atrophy (upper and lower) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:distal limb muscle atrophy (less common)
n1=en:attacks may present during or after sleep | n2=en:distal limb muscle atrophy (less common) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:distal limb muscle atrophy due to peripheral neuropathy (lower limbs are more affected than upper limbs)
n1=en:attacks may present during or after sleep | n2=en:distal limb muscle atrophy due to peripheral neuropathy (lower limbs are more affected than upper limbs) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:distal limb muscle atrophy, lower more than upper
n1=en:attacks may present during or after sleep | n2=en:distal limb muscle atrophy, lower more than upper | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:distal limb muscle weakness (less common)
n1=en:attacks may present during or after sleep | n2=en:distal limb muscle weakness (less common) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:distal limb muscle weakness and atrophy
n1=en:attacks may present during or after sleep | n2=en:distal limb muscle weakness and atrophy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:distal limb muscle weakness due to peripheral neuropathy (lower limbs are more affected than upper limbs)
n1=en:attacks may present during or after sleep | n2=en:distal limb muscle weakness due to peripheral neuropathy (lower limbs are more affected than upper limbs) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:distal limb muscle weakness occurs later
n1=en:attacks may present during or after sleep | n2=en:distal limb muscle weakness occurs later | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:distal limb muscle weakness, lower more than upper
n1=en:attacks may present during or after sleep | n2=en:distal limb muscle weakness, lower more than upper | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:distal lower limb amyotrophy
n1=en:attacks may present during or after sleep | n2=en:distal lower limb amyotrophy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:distal lower limb anterior compartment weakness
n1=en:attacks may present during or after sleep | n2=en:distal lower limb anterior compartment weakness | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:distal lower limb muscle weakness and atrophy
n1=en:attacks may present during or after sleep | n2=en:distal lower limb muscle weakness and atrophy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:distal muscle atrophy (1 patient)
n1=en:attacks may present during or after sleep | n2=en:distal muscle atrophy (1 patient) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:distal muscle atrophy (lower limbs more affected than upper limbs)
n1=en:attacks may present during or after sleep | n2=en:distal muscle atrophy (lower limbs more affected than upper limbs) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:distal muscle atrophy due to denervation
n1=en:attacks may present during or after sleep | n2=en:distal muscle atrophy due to denervation | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:distal muscle atrophy due to neurologic disease
n1=en:attacks may present during or after sleep | n2=en:distal muscle atrophy due to neurologic disease | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:distal muscle atrophy due to neuropathy
n1=en:attacks may present during or after sleep | n2=en:distal muscle atrophy due to neuropathy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:distal muscle atrophy, affecting the lower limbs
n1=en:attacks may present during or after sleep | n2=en:distal muscle atrophy, affecting the lower limbs | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:distal muscle atrophy, lower limbs more severely affected than upper limbs
n1=en:attacks may present during or after sleep | n2=en:distal muscle atrophy, lower limbs more severely affected than upper limbs | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:distal muscle atrophy, predominantly affecting the lower limbs
n1=en:attacks may present during or after sleep | n2=en:distal muscle atrophy, predominantly affecting the lower limbs | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:distal muscle atrophy, predominantly lower limbs
n1=en:attacks may present during or after sleep | n2=en:distal muscle atrophy, predominantly lower limbs | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:distal muscle wasting, mild
n1=en:attacks may present during or after sleep | n2=en:distal muscle wasting, mild | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:distal muscle weakness (first affects anterior leg muscles, then posterior leg muscles)
n1=en:attacks may present during or after sleep | n2=en:distal muscle weakness (first affects anterior leg muscles, then posterior leg muscles) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:distal muscle weakness and atrophy
n1=en:attacks may present during or after sleep | n2=en:distal muscle weakness and atrophy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:distal muscle weakness and atrophy may occur, upper and lower limbs affected
n1=en:attacks may present during or after sleep | n2=en:distal muscle weakness and atrophy may occur, upper and lower limbs affected | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:distal muscle weakness and atrophy of upper and lower limbs due to peripheral neuropathy
n1=en:attacks may present during or after sleep | n2=en:distal muscle weakness and atrophy of upper and lower limbs due to peripheral neuropathy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:distal muscle weakness and atrophy, upper and lower limbs
n1=en:attacks may present during or after sleep | n2=en:distal muscle weakness and atrophy, upper and lower limbs | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:distal muscle weakness due to neuropathy
n1=en:attacks may present during or after sleep | n2=en:distal muscle weakness due to neuropathy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:distal muscle weakness due to peripheral neuropathy, lower limbs more affected than upper limbs
n1=en:attacks may present during or after sleep | n2=en:distal muscle weakness due to peripheral neuropathy, lower limbs more affected than upper limbs | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:distal muscle weakness in lower limbs, severe
n1=en:attacks may present during or after sleep | n2=en:distal muscle weakness in lower limbs, severe | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:distal muscle weakness may occur
n1=en:attacks may present during or after sleep | n2=en:distal muscle weakness may occur | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:distal muscle weakness occurs later
n1=en:attacks may present during or after sleep | n2=en:distal muscle weakness occurs later | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:distal muscle weakness of the lower limbs secondary to peripheral neuropathy
n1=en:attacks may present during or after sleep | n2=en:distal muscle weakness of the lower limbs secondary to peripheral neuropathy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:distal muscle weakness, affecting the lower limbs
n1=en:attacks may present during or after sleep | n2=en:distal muscle weakness, affecting the lower limbs | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:distal muscle weakness, lower legs
n1=en:attacks may present during or after sleep | n2=en:distal muscle weakness, lower legs | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:distal muscle weakness, lower limbs more severely affected than upper limbs
n1=en:attacks may present during or after sleep | n2=en:distal muscle weakness, lower limbs more severely affected than upper limbs | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:distal muscle weakness, mild
n1=en:attacks may present during or after sleep | n2=en:distal muscle weakness, mild | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:distal muscle weakness, occurs initially
n1=en:attacks may present during or after sleep | n2=en:distal muscle weakness, occurs initially | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:distal muscle weakness, predominantly affecting the lower limbs
n1=en:attacks may present during or after sleep | n2=en:distal muscle weakness, predominantly affecting the lower limbs | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:distal muscle weakness, predominantly lower limbs
n1=en:attacks may present during or after sleep | n2=en:distal muscle weakness, predominantly lower limbs | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:distal muscles may be affected
n1=en:attacks may present during or after sleep | n2=en:distal muscles may be affected | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:distal muscular atrophy due to peripheral neuropathy
n1=en:attacks may present during or after sleep | n2=en:distal muscular atrophy due to peripheral neuropathy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:distal myopathy (in 1 family)
n1=en:attacks may present during or after sleep | n2=en:distal myopathy (in 1 family) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:distal skeletal muscle atrophy (after long disease duration)
n1=en:attacks may present during or after sleep | n2=en:distal skeletal muscle atrophy (after long disease duration) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:distal upper limb amyotrophy
n1=en:attacks may present during or after sleep | n2=en:distal upper limb amyotrophy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:distal upper limb muscle weakness
n1=en:attacks may present during or after sleep | n2=en:distal upper limb muscle weakness | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:distal weakness, upper and lower limbs (variable)
n1=en:attacks may present during or after sleep | n2=en:distal weakness, upper and lower limbs (variable) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:distinct from pseudopili annulati (613241)
n1=en:attacks may present during or after sleep | n2=en:distinct from pseudopili annulati (613241) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:diurnal fluctuation
n1=en:attacks may present during or after sleep | n2=en:diurnal fluctuation | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:diurnal fluctuation of neurologic symptoms
n1=en:attacks may present during or after sleep | n2=en:diurnal fluctuation of neurologic symptoms | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:divided into isolated cases (75-80%), familial (10-15%), and syndromal (1-5%)
n1=en:attacks may present during or after sleep | n2=en:divided into isolated cases (75-80%), familial (10-15%), and syndromal (1-5%) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:dorsal and flexor muscles of the forearm are involved
n1=en:attacks may present during or after sleep | n2=en:dorsal and flexor muscles of the forearm are involved | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:dramatic improvement with proper treatment
n1=en:attacks may present during or after sleep | n2=en:dramatic improvement with proper treatment | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:drug-induced dyskinesias occur in a subset of patients
n1=en:attacks may present during or after sleep | n2=en:drug-induced dyskinesias occur in a subset of patients | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:dwarfism not detectable at birth
n1=en:attacks may present during or after sleep | n2=en:dwarfism not detectable at birth | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:dysmorphic facial features reported in 1 family
n1=en:attacks may present during or after sleep | n2=en:dysmorphic facial features reported in 1 family | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:dystrophic changes
n1=en:attacks may present during or after sleep | n2=en:dystrophic changes | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:dystrophic changes may be present
n1=en:attacks may present during or after sleep | n2=en:dystrophic changes may be present | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:dystrophic changes occur later
n1=en:attacks may present during or after sleep | n2=en:dystrophic changes occur later | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:dystrophic changes on biopsy
n1=en:attacks may present during or after sleep | n2=en:dystrophic changes on biopsy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:dystrophic changes seen on muscle biopsy
n1=en:attacks may present during or after sleep | n2=en:dystrophic changes seen on muscle biopsy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:dystrophic changes seen on skeletal muscle biopsy
n1=en:attacks may present during or after sleep | n2=en:dystrophic changes seen on skeletal muscle biopsy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:dystrophic changes, mild, seen on muscle biopsy
n1=en:attacks may present during or after sleep | n2=en:dystrophic changes, mild, seen on muscle biopsy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:dystrophic features
n1=en:attacks may present during or after sleep | n2=en:dystrophic features | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:dystrophic features and atrophic fibers seen on muscle biopsy
n1=en:attacks may present during or after sleep | n2=en:dystrophic features and atrophic fibers seen on muscle biopsy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:dystrophic features seen on muscle biopsy
n1=en:attacks may present during or after sleep | n2=en:dystrophic features seen on muscle biopsy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:earlier onset is associated with a more severe disorder
n1=en:attacks may present during or after sleep | n2=en:earlier onset is associated with a more severe disorder | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:earlier onset is associated with more rapid progression
n1=en:attacks may present during or after sleep | n2=en:earlier onset is associated with more rapid progression | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:early adult onset has been reported
n1=en:attacks may present during or after sleep | n2=en:early adult onset has been reported | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:early death (in some patients)
n1=en:attacks may present during or after sleep | n2=en:early death (in some patients) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:early death (usually by 3 years of age)
n1=en:attacks may present during or after sleep | n2=en:early death (usually by 3 years of age) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:early death due to sepsis
n1=en:attacks may present during or after sleep | n2=en:early death due to sepsis | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:early death in males
n1=en:attacks may present during or after sleep | n2=en:early death in males | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:early death may occur
n1=en:attacks may present during or after sleep | n2=en:early death may occur | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:early death occurs in affected infants (days to months after disease onset)
n1=en:attacks may present during or after sleep | n2=en:early death occurs in affected infants (days to months after disease onset) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:early death often occurs from cardiac failure or infection
n1=en:attacks may present during or after sleep | n2=en:early death often occurs from cardiac failure or infection | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:early onset (9-48 years, but reported up to 68 years)
n1=en:attacks may present during or after sleep | n2=en:early onset (9-48 years, but reported up to 68 years) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:easy bruisability of lower extremities
n1=en:attacks may present during or after sleep | n2=en:easy bruisability of lower extremities | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:easy fatigability with exercise
n1=en:attacks may present during or after sleep | n2=en:easy fatigability with exercise | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:easy fatigue
n1=en:attacks may present during or after sleep | n2=en:easy fatigue | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:edema (hands and feet)
n1=en:attacks may present during or after sleep | n2=en:edema (hands and feet) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:edema at birth
n1=en:attacks may present during or after sleep | n2=en:edema at birth | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:edema is present at birth and then slowly decreases
n1=en:attacks may present during or after sleep | n2=en:edema is present at birth and then slowly decreases | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:edema limbs
n1=en:attacks may present during or after sleep | n2=en:edema limbs | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:edema reoccurs with infections
n1=en:attacks may present during or after sleep | n2=en:edema reoccurs with infections | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:edema, subcutaneous, generalized
n1=en:attacks may present during or after sleep | n2=en:edema, subcutaneous, generalized | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:edematous hands and feet (1 patient)
n1=en:attacks may present during or after sleep | n2=en:edematous hands and feet (1 patient) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:electromyographic decrements in some muscles
n1=en:attacks may present during or after sleep | n2=en:electromyographic decrements in some muscles | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:electromyography may be normal in infancy, but shows myopathic pattern in adolescence and adulthood
n1=en:attacks may present during or after sleep | n2=en:electromyography may be normal in infancy, but shows myopathic pattern in adolescence and adulthood | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:electromyography shows myotonic discharges
n1=en:attacks may present during or after sleep | n2=en:electromyography shows myotonic discharges | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:electron microscopy shows abnormal mitochondria with disorganized and vacuolated cristae
n1=en:attacks may present during or after sleep | n2=en:electron microscopy shows abnormal mitochondria with disorganized and vacuolated cristae | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:electron microscopy shows subsarcolemmal accumulations of abnormally shaped mitochondria
n1=en:attacks may present during or after sleep | n2=en:electron microscopy shows subsarcolemmal accumulations of abnormally shaped mitochondria | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:elevated body temperatures to 42 degrees celsius
n1=en:attacks may present during or after sleep | n2=en:elevated body temperatures to 42 degrees celsius | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:end-stage renal failure may occur
n1=en:attacks may present during or after sleep | n2=en:end-stage renal failure may occur | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:endomysial fibrosis
n1=en:attacks may present during or after sleep | n2=en:endomysial fibrosis | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:endplate myopathy
n1=en:attacks may present during or after sleep | n2=en:endplate myopathy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:enlarged mitochondria
n1=en:attacks may present during or after sleep | n2=en:enlarged mitochondria | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:enlarged nuclei with central pallor
n1=en:attacks may present during or after sleep | n2=en:enlarged nuclei with central pallor | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:enlarged terminal cisternae of the sarcoplasmic reticulum
n1=en:attacks may present during or after sleep | n2=en:enlarged terminal cisternae of the sarcoplasmic reticulum | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:enlarged vesicles of sarcoplasmic reticulum origin
n1=en:attacks may present during or after sleep | n2=en:enlarged vesicles of sarcoplasmic reticulum origin | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:enteroviral dermatomyositis syndrome
n1=en:attacks may present during or after sleep | n2=en:enteroviral dermatomyositis syndrome | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:eosinophilic inclusions
n1=en:attacks may present during or after sleep | n2=en:eosinophilic inclusions | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:episode frequency is monthly to yearly, and decreases with age
n1=en:attacks may present during or after sleep | n2=en:episode frequency is monthly to yearly, and decreases with age | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:episodes are triggered by cold exposure
n1=en:attacks may present during or after sleep | n2=en:episodes are triggered by cold exposure | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:episodes brought on by fasting or infection
n1=en:attacks may present during or after sleep | n2=en:episodes brought on by fasting or infection | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:episodes last from several hours to days
n1=en:attacks may present during or after sleep | n2=en:episodes last from several hours to days | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:episodes may be triggered by exercise, emotional stress, head trauma, angiography, lack of sleep, heat
n1=en:attacks may present during or after sleep | n2=en:episodes may be triggered by exercise, emotional stress, head trauma, angiography, lack of sleep, heat | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:episodes occur 30 minutes to 3 hours after exposure to cold
n1=en:attacks may present during or after sleep | n2=en:episodes occur 30 minutes to 3 hours after exposure to cold | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:episodes tend to decrease with age
n1=en:attacks may present during or after sleep | n2=en:episodes tend to decrease with age | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:episodic weakness may or may not occur independent of myotonia
n1=en:attacks may present during or after sleep | n2=en:episodic weakness may or may not occur independent of myotonia | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:episodic, nonerythematous, nonpruritic, nontender edema, episodic
n1=en:attacks may present during or after sleep | n2=en:episodic, nonerythematous, nonpruritic, nontender edema, episodic | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:episodic, nonpruritic, nonurticarial, nonpitting edema
n1=en:attacks may present during or after sleep | n2=en:episodic, nonpruritic, nonurticarial, nonpitting edema | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:estimated frequence 1/3000 to 1/5000
n1=en:attacks may present during or after sleep | n2=en:estimated frequence 1/3000 to 1/5000 | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:estimated frequency 1/2000-1/4000 individuals
n1=en:attacks may present during or after sleep | n2=en:estimated frequency 1/2000-1/4000 individuals | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:estimated incidence of 1-2 in 10,000
n1=en:attacks may present during or after sleep | n2=en:estimated incidence of 1-2 in 10,000 | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:evidence of lymphatic rerouting
n1=en:attacks may present during or after sleep | n2=en:evidence of lymphatic rerouting | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:evidence of systemic iron overload seen in 1 family
n1=en:attacks may present during or after sleep | n2=en:evidence of systemic iron overload seen in 1 family | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:exacerbated by stress
n1=en:attacks may present during or after sleep | n2=en:exacerbated by stress | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:excess fat, symmetrically located in buttocks and lower extremities to ankles
n1=en:attacks may present during or after sleep | n2=en:excess fat, symmetrically located in buttocks and lower extremities to ankles | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:excessive postsurgical blood loss
n1=en:attacks may present during or after sleep | n2=en:excessive postsurgical blood loss | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:excessive skin picking of sores
n1=en:attacks may present during or after sleep | n2=en:excessive skin picking of sores | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:exercise capacity decreased
n1=en:attacks may present during or after sleep | n2=en:exercise capacity decreased | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:exercise intolerance (also seen in some heterozygotes)
n1=en:attacks may present during or after sleep | n2=en:exercise intolerance (also seen in some heterozygotes) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:exercise intolerance (less common)
n1=en:attacks may present during or after sleep | n2=en:exercise intolerance (less common) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:exercise-induced muscle fatigue
n1=en:attacks may present during or after sleep | n2=en:exercise-induced muscle fatigue | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:exercise-induced muscle stiffness
n1=en:attacks may present during or after sleep | n2=en:exercise-induced muscle stiffness | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:exercise-induced weakness
n1=en:attacks may present during or after sleep | n2=en:exercise-induced weakness | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:exertional fatigue
n1=en:attacks may present during or after sleep | n2=en:exertional fatigue | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:exertional leg pain
n1=en:attacks may present during or after sleep | n2=en:exertional leg pain | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:exomphalos
n1=en:attacks may present during or after sleep | n2=en:exomphalos | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:extensive fatty infiltration on biopsy
n1=en:attacks may present during or after sleep | n2=en:extensive fatty infiltration on biopsy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:extensor muscle weakness more severe than flexor muscle weakness
n1=en:attacks may present during or after sleep | n2=en:extensor muscle weakness more severe than flexor muscle weakness | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:extrapyramidal signs show a favorable response to levodopa
n1=en:attacks may present during or after sleep | n2=en:extrapyramidal signs show a favorable response to levodopa | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:eye involvement begins at birth, neurologic involvement begins later
n1=en:attacks may present during or after sleep | n2=en:eye involvement begins at birth, neurologic involvement begins later | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:facial dysmorphic features are mild
n1=en:attacks may present during or after sleep | n2=en:facial dysmorphic features are mild | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:facial edema
n1=en:attacks may present during or after sleep | n2=en:facial edema | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:facial muscle atrophy of involved side
n1=en:attacks may present during or after sleep | n2=en:facial muscle atrophy of involved side | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:facial muscle weakness and atrophy, progressive
n1=en:attacks may present during or after sleep | n2=en:facial muscle weakness and atrophy, progressive | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:facial palsy often transient in infancy
n1=en:attacks may present during or after sleep | n2=en:facial palsy often transient in infancy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:familial occurrence is rare
n1=en:attacks may present during or after sleep | n2=en:familial occurrence is rare | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:family a had a severe multisystem disorder resulting in death before age 2 years
n1=en:attacks may present during or after sleep | n2=en:family a had a severe multisystem disorder resulting in death before age 2 years | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:fasciculations (in some patients)
n1=en:attacks may present during or after sleep | n2=en:fasciculations (in some patients) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:fasciculations (less common)
n1=en:attacks may present during or after sleep | n2=en:fasciculations (less common) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:fat accumulation in the suprabuttock area
n1=en:attacks may present during or after sleep | n2=en:fat accumulation in the suprabuttock area | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:fat droplets in sarcoplasm and mitochondria seen on skeletal muscle biopsy
n1=en:attacks may present during or after sleep | n2=en:fat droplets in sarcoplasm and mitochondria seen on skeletal muscle biopsy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:fat pad anterior to malleolus
n1=en:attacks may present during or after sleep | n2=en:fat pad anterior to malleolus | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:fat pads on the hands and feet
n1=en:attacks may present during or after sleep | n2=en:fat pads on the hands and feet | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:fatal before age 2 years
n1=en:attacks may present during or after sleep | n2=en:fatal before age 2 years | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:fatal in first few months of life in most cases
n1=en:attacks may present during or after sleep | n2=en:fatal in first few months of life in most cases | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:fatal without lung transplant
n1=en:attacks may present during or after sleep | n2=en:fatal without lung transplant | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:fatty deposition
n1=en:attacks may present during or after sleep | n2=en:fatty deposition | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:fatty infiltration of affected muscles
n1=en:attacks may present during or after sleep | n2=en:fatty infiltration of affected muscles | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:fatty infiltration seen on muscle biopsy
n1=en:attacks may present during or after sleep | n2=en:fatty infiltration seen on muscle biopsy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:fatty replacement
n1=en:attacks may present during or after sleep | n2=en:fatty replacement | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:favorable response to 3,4-diaminopyridine
n1=en:attacks may present during or after sleep | n2=en:favorable response to 3,4-diaminopyridine | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:favorable response to ephedrine treatment
n1=en:attacks may present during or after sleep | n2=en:favorable response to ephedrine treatment | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:favorable response to ursodeoxycholic acid treatment
n1=en:attacks may present during or after sleep | n2=en:favorable response to ursodeoxycholic acid treatment | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:features are variable
n1=en:attacks may present during or after sleep | n2=en:features are variable | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:feebleness
n1=en:attacks may present during or after sleep | n2=en:feebleness | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:feet are unaffected in some patients
n1=en:attacks may present during or after sleep | n2=en:feet are unaffected in some patients | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:female carriers may be affected
n1=en:attacks may present during or after sleep | n2=en:female carriers may be affected | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:female carriers may be mildly affected
n1=en:attacks may present during or after sleep | n2=en:female carriers may be mildly affected | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:female carriers may have asymptomatic hypercalciuria or hypophosphatemia only
n1=en:attacks may present during or after sleep | n2=en:female carriers may have asymptomatic hypercalciuria or hypophosphatemia only | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:female carriers may show intermittent hematuria
n1=en:attacks may present during or after sleep | n2=en:female carriers may show intermittent hematuria | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:females often show milder phenotype with later onset of cardiac symptoms
n1=en:attacks may present during or after sleep | n2=en:females often show milder phenotype with later onset of cardiac symptoms | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:few familial (parent offspring) cases reported
n1=en:attacks may present during or after sleep | n2=en:few familial (parent offspring) cases reported | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:fiber necrosis
n1=en:attacks may present during or after sleep | n2=en:fiber necrosis | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:fiber size variation
n1=en:attacks may present during or after sleep | n2=en:fiber size variation | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:fiber size variation seen on muscle biopsy
n1=en:attacks may present during or after sleep | n2=en:fiber size variation seen on muscle biopsy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:fiber type grouping
n1=en:attacks may present during or after sleep | n2=en:fiber type grouping | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:fiber type variation
n1=en:attacks may present during or after sleep | n2=en:fiber type variation | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:fiber type variation seen on biopsy
n1=en:attacks may present during or after sleep | n2=en:fiber type variation seen on biopsy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:fiber-type grouping pattern
n1=en:attacks may present during or after sleep | n2=en:fiber-type grouping pattern | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:fiber-type variability
n1=en:attacks may present during or after sleep | n2=en:fiber-type variability | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:fibrillations in affected muscles
n1=en:attacks may present during or after sleep | n2=en:fibrillations in affected muscles | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:fibrous dysplasia (rare)
n1=en:attacks may present during or after sleep | n2=en:fibrous dysplasia (rare) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:filamentous inclusions in muscle fibers
n1=en:attacks may present during or after sleep | n2=en:filamentous inclusions in muscle fibers | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:finger and wrist extensor weakness
n1=en:attacks may present during or after sleep | n2=en:finger and wrist extensor weakness | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:firm muscles
n1=en:attacks may present during or after sleep | n2=en:firm muscles | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:first fracture in early childhood
n1=en:attacks may present during or after sleep | n2=en:first fracture in early childhood | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:fishy body odor
n1=en:attacks may present during or after sleep | n2=en:fishy body odor | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:flaccid weakness or paralysis, episodic attacks
n1=en:attacks may present during or after sleep | n2=en:flaccid weakness or paralysis, episodic attacks | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:floppy infant
n1=en:attacks may present during or after sleep | n2=en:floppy infant | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:focal loss of cross striations seen on muscle biopsy
n1=en:attacks may present during or after sleep | n2=en:focal loss of cross striations seen on muscle biopsy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:focal lymphocytic and macrophage infiltrates on biopsy
n1=en:attacks may present during or after sleep | n2=en:focal lymphocytic and macrophage infiltrates on biopsy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:foot deformities are present in infancy or childhood
n1=en:attacks may present during or after sleep | n2=en:foot deformities are present in infancy or childhood | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:foot dorsiflexor weakness
n1=en:attacks may present during or after sleep | n2=en:foot dorsiflexor weakness | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:foot extensor muscle weakness (later onset)
n1=en:attacks may present during or after sleep | n2=en:foot extensor muscle weakness (later onset) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:foot-drop
n1=en:attacks may present during or after sleep | n2=en:foot-drop | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930)
n1=en:attacks may present during or after sleep | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:four patients from 3 families have been reported (last curated march 2016)
n1=en:attacks may present during or after sleep | n2=en:four patients from 3 families have been reported (last curated march 2016) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:four separate types - (1) severe perinatal ('lethal') form, (2) severe infantile form, (3) childhood form, and (4) adult form
n1=en:attacks may present during or after sleep | n2=en:four separate types - (1) severe perinatal ('lethal') form, (2) severe infantile form, (3) childhood form, and (4) adult form | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:four unrelated families have been reported (last curated august 2015)
n1=en:attacks may present during or after sleep | n2=en:four unrelated families have been reported (last curated august 2015) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:four unrelated families have been reported (last curated september 2015)
n1=en:attacks may present during or after sleep | n2=en:four unrelated families have been reported (last curated september 2015) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:four unrelated patients have been reported (last curated june 2014)
n1=en:attacks may present during or after sleep | n2=en:four unrelated patients have been reported (last curated june 2014) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:fracture frequency decreased post puberty
n1=en:attacks may present during or after sleep | n2=en:fracture frequency decreased post puberty | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:fractures and dental caries and premature secondary tooth loss occur in adulthood
n1=en:attacks may present during or after sleep | n2=en:fractures and dental caries and premature secondary tooth loss occur in adulthood | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:fractures can occur in utero, during labor and delivery, or in newborn period
n1=en:attacks may present during or after sleep | n2=en:fractures can occur in utero, during labor and delivery, or in newborn period | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:fractures decrease after puberty but increase after menopause
n1=en:attacks may present during or after sleep | n2=en:fractures decrease after puberty but increase after menopause | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:fragmentation of the neuromuscular junction with pre- and postsynaptic defects
n1=en:attacks may present during or after sleep | n2=en:fragmentation of the neuromuscular junction with pre- and postsynaptic defects | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:fragmented mitochondrial network
n1=en:attacks may present during or after sleep | n2=en:fragmented mitochondrial network | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:frequency and severity of symptoms do not worsen with age
n1=en:attacks may present during or after sleep | n2=en:frequency and severity of symptoms do not worsen with age | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:frequency of infections decreases after 3 years of age
n1=en:attacks may present during or after sleep | n2=en:frequency of infections decreases after 3 years of age | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:full recovery after attacks
n1=en:attacks may present during or after sleep | n2=en:full recovery after attacks | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:gait abnormalities (occurs later)
n1=en:attacks may present during or after sleep | n2=en:gait abnormalities (occurs later) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:gait disturbance
n1=en:attacks may present during or after sleep | n2=en:gait disturbance | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:gait unsteady
n1=en:attacks may present during or after sleep | n2=en:gait unsteady | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:gait, drop foot
n1=en:attacks may present during or after sleep | n2=en:gait, drop foot | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:gastric suction pump, home model, portable or stationary, electric
n1=en:attacks may present during or after sleep | n2=en:gastric suction pump, home model, portable or stationary, electric | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:gastrocnemius and soleus muscles most affected
n1=en:attacks may present during or after sleep | n2=en:gastrocnemius and soleus muscles most affected | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:general paralysis
n1=en:attacks may present during or after sleep | n2=en:general paralysis | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:general paresis
n1=en:attacks may present during or after sleep | n2=en:general paresis | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:generalized amyoplasia
n1=en:attacks may present during or after sleep | n2=en:generalized amyoplasia | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:generalized hypotonia
n1=en:attacks may present during or after sleep | n2=en:generalized hypotonia | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:generalized lack of subcutaneous fat
n1=en:attacks may present during or after sleep | n2=en:generalized lack of subcutaneous fat | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:generalized limb muscle atrophy
n1=en:attacks may present during or after sleep | n2=en:generalized limb muscle atrophy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:generalized muscle contractions, episodic
n1=en:attacks may present during or after sleep | n2=en:generalized muscle contractions, episodic | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:generalized muscle hypertrophy
n1=en:attacks may present during or after sleep | n2=en:generalized muscle hypertrophy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:generalized muscle wasting
n1=en:attacks may present during or after sleep | n2=en:generalized muscle wasting | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:generalized muscle weakness (less common)
n1=en:attacks may present during or after sleep | n2=en:generalized muscle weakness (less common) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:generalized muscle weakness also seen in symptomatic carrier females
n1=en:attacks may present during or after sleep | n2=en:generalized muscle weakness also seen in symptomatic carrier females | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:generalized muscle weakness, proximal and distal
n1=en:attacks may present during or after sleep | n2=en:generalized muscle weakness, proximal and distal | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:generalized muscle weakness, severe
n1=en:attacks may present during or after sleep | n2=en:generalized muscle weakness, severe | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:generalized muscular appearance from birth
n1=en:attacks may present during or after sleep | n2=en:generalized muscular appearance from birth | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:generalized neonatal hypotonia
n1=en:attacks may present during or after sleep | n2=en:generalized neonatal hypotonia | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:generalized weakness (adult-onset)
n1=en:attacks may present during or after sleep | n2=en:generalized weakness (adult-onset) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:genetic heterogeneity (may be caused by mutation in nuclear-encoded or mitochondrial-encoded genes)
n1=en:attacks may present during or after sleep | n2=en:genetic heterogeneity (may be caused by mutation in nuclear-encoded or mitochondrial-encoded genes) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:genetic heterogeneity (see 116800 for summary)
n1=en:attacks may present during or after sleep | n2=en:genetic heterogeneity (see 116800 for summary) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:genetic heterogeneity (see 161800)
n1=en:attacks may present during or after sleep | n2=en:genetic heterogeneity (see 161800) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:genetic heterogeneity (see 605407)
n1=en:attacks may present during or after sleep | n2=en:genetic heterogeneity (see 605407) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:genetic heterogeneity (see 609192)
n1=en:attacks may present during or after sleep | n2=en:genetic heterogeneity (see 609192) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:genetic heterogeneity (see mcc1 deficiency 210200)
n1=en:attacks may present during or after sleep | n2=en:genetic heterogeneity (see mcc1 deficiency 210200) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:giant granules in muscle cells
n1=en:attacks may present during or after sleep | n2=en:giant granules in muscle cells | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:gigantism and hyperplastic visceromegaly
n1=en:attacks may present during or after sleep | n2=en:gigantism and hyperplastic visceromegaly | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:global muscle weakness
n1=en:attacks may present during or after sleep | n2=en:global muscle weakness | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:glucocorticoid deficiency occurs in mid-childhood
n1=en:attacks may present during or after sleep | n2=en:glucocorticoid deficiency occurs in mid-childhood | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:gluteal hypoplasia
n1=en:attacks may present during or after sleep | n2=en:gluteal hypoplasia | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:gluteus maximus and thigh adductors most affected
n1=en:attacks may present during or after sleep | n2=en:gluteus maximus and thigh adductors most affected | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:glycogen accumulation seen on biopsy
n1=en:attacks may present during or after sleep | n2=en:glycogen accumulation seen on biopsy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:glycogen deficiency in muscle fibers
n1=en:attacks may present during or after sleep | n2=en:glycogen deficiency in muscle fibers | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:glycogen depletion in skeletal muscle
n1=en:attacks may present during or after sleep | n2=en:glycogen depletion in skeletal muscle | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:glycogenosis of skeletal muscle, mild (in some patients)
n1=en:attacks may present during or after sleep | n2=en:glycogenosis of skeletal muscle, mild (in some patients) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:gonadal and somatic mosaicism reported in parent
n1=en:attacks may present during or after sleep | n2=en:gonadal and somatic mosaicism reported in parent | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:good response to steroid treatment
n1=en:attacks may present during or after sleep | n2=en:good response to steroid treatment | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:gowers sign (in some patients)
n1=en:attacks may present during or after sleep | n2=en:gowers sign (in some patients) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:gradual progression
n1=en:attacks may present during or after sleep | n2=en:gradual progression | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:granular deposits in the sarcomeres
n1=en:attacks may present during or after sleep | n2=en:granular deposits in the sarcomeres | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:great variation in extent of hypertrophy in mutation-positive individuals
n1=en:attacks may present during or after sleep | n2=en:great variation in extent of hypertrophy in mutation-positive individuals | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:hair regrowth may occur later in life
n1=en:attacks may present during or after sleep | n2=en:hair regrowth may occur later in life | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:hairy elbows become apparent in infancy and regress during adolescence
n1=en:attacks may present during or after sleep | n2=en:hairy elbows become apparent in infancy and regress during adolescence | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:hamstring and quadriceps muscles mildly affected
n1=en:attacks may present during or after sleep | n2=en:hamstring and quadriceps muscles mildly affected | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:hamstring muscle affected
n1=en:attacks may present during or after sleep | n2=en:hamstring muscle affected | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:hand and foot lesions can severely limit dexterity (due to flexion contractures) and mobility (due to painful fissures)
n1=en:attacks may present during or after sleep | n2=en:hand and foot lesions can severely limit dexterity (due to flexion contractures) and mobility (due to painful fissures) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:hand and foot weakness
n1=en:attacks may present during or after sleep | n2=en:hand and foot weakness | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:hand muscle atrophy
n1=en:attacks may present during or after sleep | n2=en:hand muscle atrophy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:handgrip myotonia
n1=en:attacks may present during or after sleep | n2=en:handgrip myotonia | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:hands clenched at birth but loosen in infancy
n1=en:attacks may present during or after sleep | n2=en:hands clenched at birth but loosen in infancy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:hang weakness
n1=en:attacks may present during or after sleep | n2=en:hang weakness | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:hangrip myotonia
n1=en:attacks may present during or after sleep | n2=en:hangrip myotonia | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:head drop due to neck muscle weakness
n1=en:attacks may present during or after sleep | n2=en:head drop due to neck muscle weakness | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:hearing loss is nonprogressive
n1=en:attacks may present during or after sleep | n2=en:hearing loss is nonprogressive | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:hearing loss is usually severe by age 20 years
n1=en:attacks may present during or after sleep | n2=en:hearing loss is usually severe by age 20 years | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:hearing loss ma be fluctuating or progressive
n1=en:attacks may present during or after sleep | n2=en:hearing loss ma be fluctuating or progressive | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:hearing loss may be congenital or rapidly progressive leading to severe hearing loss by age 3 years
n1=en:attacks may present during or after sleep | n2=en:hearing loss may be congenital or rapidly progressive leading to severe hearing loss by age 3 years | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:hearing loss occurs in late childhood
n1=en:attacks may present during or after sleep | n2=en:hearing loss occurs in late childhood | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:hearing loss occurs later if at all
n1=en:attacks may present during or after sleep | n2=en:hearing loss occurs later if at all | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:hearing loss progresses to profound deafness
n1=en:attacks may present during or after sleep | n2=en:hearing loss progresses to profound deafness | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:hematomas, recurrent large subcutaneous
n1=en:attacks may present during or after sleep | n2=en:hematomas, recurrent large subcutaneous | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:hematuria may become apparent after respiratory infections (synpharyngitic)
n1=en:attacks may present during or after sleep | n2=en:hematuria may become apparent after respiratory infections (synpharyngitic) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:hepatic failure develops in first months of life
n1=en:attacks may present during or after sleep | n2=en:hepatic failure develops in first months of life | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:hepatomegaly improves with age and disappears around puberty
n1=en:attacks may present during or after sleep | n2=en:hepatomegaly improves with age and disappears around puberty | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:heterotopic bone formation in subcutaneous fat
n1=en:attacks may present during or after sleep | n2=en:heterotopic bone formation in subcutaneous fat | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:heterozygote may have elevated serum phosphate and elevated serum 1,25-dihydroxycholecalciferol
n1=en:attacks may present during or after sleep | n2=en:heterozygote may have elevated serum phosphate and elevated serum 1,25-dihydroxycholecalciferol | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:heterozygotes are not affected
n1=en:attacks may present during or after sleep | n2=en:heterozygotes are not affected | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:heterozygotes at risk of developing acute, symptomatic methemoglobinemia after exposure to exogenous, methemoglobin-inducing agents
n1=en:attacks may present during or after sleep | n2=en:heterozygotes at risk of developing acute, symptomatic methemoglobinemia after exposure to exogenous, methemoglobin-inducing agents | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:heterozygotes exhibit blue sclerae and soft velvety skin
n1=en:attacks may present during or after sleep | n2=en:heterozygotes exhibit blue sclerae and soft velvety skin | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:heterozygotes may also show increased susceptibility to toxic effects of thiopurine treatment
n1=en:attacks may present during or after sleep | n2=en:heterozygotes may also show increased susceptibility to toxic effects of thiopurine treatment | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:heterozygotes may exhibit syndromic manifestations
n1=en:attacks may present during or after sleep | n2=en:heterozygotes may exhibit syndromic manifestations | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:heterozygous carriers exhibit palmoplantar hyperkeratosis (see 148700)
n1=en:attacks may present during or after sleep | n2=en:heterozygous carriers exhibit palmoplantar hyperkeratosis (see 148700) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:heterozygous carriers have blue sclerae, small joint hypermobility, and mild thinning of cornea
n1=en:attacks may present during or after sleep | n2=en:heterozygous carriers have blue sclerae, small joint hypermobility, and mild thinning of cornea | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:heterozygous female carriers may manifest symptoms
n1=en:attacks may present during or after sleep | n2=en:heterozygous female carriers may manifest symptoms | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:heterozygous females may exhibit variable degrees of enzyme deficiency
n1=en:attacks may present during or after sleep | n2=en:heterozygous females may exhibit variable degrees of enzyme deficiency | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:heterozygous females may have situs inversus or other midline defects
n1=en:attacks may present during or after sleep | n2=en:heterozygous females may have situs inversus or other midline defects | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:heterozygous females more mildly affected than hemizygous males
n1=en:attacks may present during or after sleep | n2=en:heterozygous females more mildly affected than hemizygous males | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:heterozygous mutation carriers may have late-onset of mild symptoms
n1=en:attacks may present during or after sleep | n2=en:heterozygous mutation carriers may have late-onset of mild symptoms | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:high frequencies affected before low frequencies
n1=en:attacks may present during or after sleep | n2=en:high frequencies affected before low frequencies | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:high frequency hearing loss progresses to include all frequencies
n1=en:attacks may present during or after sleep | n2=en:high frequency hearing loss progresses to include all frequencies | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:high frequency of absence seizures (several per day)
n1=en:attacks may present during or after sleep | n2=en:high frequency of absence seizures (several per day) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:high frequency of levodopa-induced dyskinesias
n1=en:attacks may present during or after sleep | n2=en:high frequency of levodopa-induced dyskinesias | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:high mortality in infancy and early childhood (in some patients)
n1=en:attacks may present during or after sleep | n2=en:high mortality in infancy and early childhood (in some patients) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:high pain threshold
n1=en:attacks may present during or after sleep | n2=en:high pain threshold | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:high recurrence rate
n1=en:attacks may present during or after sleep | n2=en:high recurrence rate | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:high risk of recurrence after surgery
n1=en:attacks may present during or after sleep | n2=en:high risk of recurrence after surgery | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:highly penetrant, but low morbidity
n1=en:attacks may present during or after sleep | n2=en:highly penetrant, but low morbidity | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:highly variable age at onset (range 9 to 69 years)
n1=en:attacks may present during or after sleep | n2=en:highly variable age at onset (range 9 to 69 years) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:highly variable clinical phenotype
n1=en:attacks may present during or after sleep | n2=en:highly variable clinical phenotype | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:highly variable expression
n1=en:attacks may present during or after sleep | n2=en:highly variable expression | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:highly variable frequency and duration of episodes
n1=en:attacks may present during or after sleep | n2=en:highly variable frequency and duration of episodes | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:highly variable frequency and severity of attacks
n1=en:attacks may present during or after sleep | n2=en:highly variable frequency and severity of attacks | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:highly variable organ involvement and severity
n1=en:attacks may present during or after sleep | n2=en:highly variable organ involvement and severity | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:highly variable phenotype and severity
n1=en:attacks may present during or after sleep | n2=en:highly variable phenotype and severity | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:highly variable phenotype including fluctuating phenotype ('fluctuans') or severe phenotype ('permanens')
n1=en:attacks may present during or after sleep | n2=en:highly variable phenotype including fluctuating phenotype ('fluctuans') or severe phenotype ('permanens') | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:highly variable phenotype that includes several subtypes (see, e.g., 607485, 601104)
n1=en:attacks may present during or after sleep | n2=en:highly variable phenotype that includes several subtypes (see, e.g., 607485, 601104) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:highly variable phenotype with respect to facial dysmorphism and neurologic features
n1=en:attacks may present during or after sleep | n2=en:highly variable phenotype with respect to facial dysmorphism and neurologic features | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:highly variable phenotype, even within families
n1=en:attacks may present during or after sleep | n2=en:highly variable phenotype, even within families | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:highly variable phenotype, ranging from asymptomatic to severe
n1=en:attacks may present during or after sleep | n2=en:highly variable phenotype, ranging from asymptomatic to severe | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:highly variable phenotype, some adults may be asymptomatic
n1=en:attacks may present during or after sleep | n2=en:highly variable phenotype, some adults may be asymptomatic | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:highly variable severity and features
n1=en:attacks may present during or after sleep | n2=en:highly variable severity and features | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:highly variable severity, ranging from death in utero to survival to adulthood with normal intelligence
n1=en:attacks may present during or after sleep | n2=en:highly variable severity, ranging from death in utero to survival to adulthood with normal intelligence | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:hip abductor weakness and atrophy
n1=en:attacks may present during or after sleep | n2=en:hip abductor weakness and atrophy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:hip flexor weakness
n1=en:attacks may present during or after sleep | n2=en:hip flexor weakness | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:hip girdle muscle atrophy
n1=en:attacks may present during or after sleep | n2=en:hip girdle muscle atrophy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:hip girdle muscle weakness (usually presenting symptom)
n1=en:attacks may present during or after sleep | n2=en:hip girdle muscle weakness (usually presenting symptom) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:hip joint replacement often necessary
n1=en:attacks may present during or after sleep | n2=en:hip joint replacement often necessary | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:homozygotes have more severe disease with earlier onset of thrombosis
n1=en:attacks may present during or after sleep | n2=en:homozygotes have more severe disease with earlier onset of thrombosis | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:however, neonatal seizures, severe mental retardation, distinct dysmorphic features, and mitochondrial dysfunction are unique to 2p21 deletion syndrome (2p21del)
n1=en:attacks may present during or after sleep | n2=en:however, neonatal seizures, severe mental retardation, distinct dysmorphic features, and mitochondrial dysfunction are unique to 2p21 deletion syndrome (2p21del) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:humeroperoneal weakness and atrophy
n1=en:attacks may present during or after sleep | n2=en:humeroperoneal weakness and atrophy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:hyaline inclusion
n1=en:attacks may present during or after sleep | n2=en:hyaline inclusion | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:hyaline plaques with absent oxidative activity
n1=en:attacks may present during or after sleep | n2=en:hyaline plaques with absent oxidative activity | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:hydrops fetalis is associated with death in utero (90%) or within 2 days of birth
n1=en:attacks may present during or after sleep | n2=en:hydrops fetalis is associated with death in utero (90%) or within 2 days of birth | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:hyperkeratosis often present at birth but may appear later
n1=en:attacks may present during or after sleep | n2=en:hyperkeratosis often present at birth but may appear later | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:hyperlipidemia may be partially responsive to fat-restricted diet
n1=en:attacks may present during or after sleep | n2=en:hyperlipidemia may be partially responsive to fat-restricted diet | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:hyperpigmented patches increased in size and number with age
n1=en:attacks may present during or after sleep | n2=en:hyperpigmented patches increased in size and number with age | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:hypersensitivity to ionizing radiation
n1=en:attacks may present during or after sleep | n2=en:hypersensitivity to ionizing radiation | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:hyperthermia in early childhood
n1=en:attacks may present during or after sleep | n2=en:hyperthermia in early childhood | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:hypertonia at birth
n1=en:attacks may present during or after sleep | n2=en:hypertonia at birth | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:hypertonicity (uncommon)
n1=en:attacks may present during or after sleep | n2=en:hypertonicity (uncommon) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:hypertonicity of the lower limbs
n1=en:attacks may present during or after sleep | n2=en:hypertonicity of the lower limbs | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:hypertrophy of calves (in 3 of 6 patients)
n1=en:attacks may present during or after sleep | n2=en:hypertrophy of calves (in 3 of 6 patients) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:hypertrophy of the extensor digitorum brevis muscles
n1=en:attacks may present during or after sleep | n2=en:hypertrophy of the extensor digitorum brevis muscles | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:hypoactive gag reflex
n1=en:attacks may present during or after sleep | n2=en:hypoactive gag reflex | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:hypoglycosylation of alpha-dystroglycan
n1=en:attacks may present during or after sleep | n2=en:hypoglycosylation of alpha-dystroglycan | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:hypoglycosylation of alpha-dystroglycan seen on muscle biopsy
n1=en:attacks may present during or after sleep | n2=en:hypoglycosylation of alpha-dystroglycan seen on muscle biopsy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:hypoplasia of cervical paravertebral muscles
n1=en:attacks may present during or after sleep | n2=en:hypoplasia of cervical paravertebral muscles | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:hypoplasia of latissimus dorsi muscle
n1=en:attacks may present during or after sleep | n2=en:hypoplasia of latissimus dorsi muscle | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:hypoplasia of serratus anterior muscle
n1=en:attacks may present during or after sleep | n2=en:hypoplasia of serratus anterior muscle | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:hypoplasia of supraspinatus muscle
n1=en:attacks may present during or after sleep | n2=en:hypoplasia of supraspinatus muscle | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:hypoplasia of the hand muscles (29%)
n1=en:attacks may present during or after sleep | n2=en:hypoplasia of the hand muscles (29%) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:hyporeflexia
n1=en:attacks may present during or after sleep | n2=en:hyporeflexia | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:hyporeflexia in affected muscles
n1=en:attacks may present during or after sleep | n2=en:hyporeflexia in affected muscles | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:hypothenar muscle atrophy
n1=en:attacks may present during or after sleep | n2=en:hypothenar muscle atrophy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:hypothyroidism is less severe in individuals with high dietary iodine intake
n1=en:attacks may present during or after sleep | n2=en:hypothyroidism is less severe in individuals with high dietary iodine intake | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:hypotonia (2 patients)
n1=en:attacks may present during or after sleep | n2=en:hypotonia (2 patients) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:hypotonia (45%)
n1=en:attacks may present during or after sleep | n2=en:hypotonia (45%) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:hypotonia (families a and b)
n1=en:attacks may present during or after sleep | n2=en:hypotonia (families a and b) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:hypotonia (patients a and c)
n1=en:attacks may present during or after sleep | n2=en:hypotonia (patients a and c) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:hypotonia (untreated hypothyroidism)
n1=en:attacks may present during or after sleep | n2=en:hypotonia (untreated hypothyroidism) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:hypotonia, generalized (in some patients)
n1=en:attacks may present during or after sleep | n2=en:hypotonia, generalized (in some patients) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:hypotonia, generalized, severe
n1=en:attacks may present during or after sleep | n2=en:hypotonia, generalized, severe | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:hypotonia, infantile, severe
n1=en:attacks may present during or after sleep | n2=en:hypotonia, infantile, severe | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:hypotonia, mild (1 patient)
n1=en:attacks may present during or after sleep | n2=en:hypotonia, mild (1 patient) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:hypotonia, neonatal and later
n1=en:attacks may present during or after sleep | n2=en:hypotonia, neonatal and later | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:hypotonia, neonatal, severe (hcs)
n1=en:attacks may present during or after sleep | n2=en:hypotonia, neonatal, severe (hcs) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:hypotonia, profound
n1=en:attacks may present during or after sleep | n2=en:hypotonia, profound | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:hypotonia, severe, neonatal
n1=en:attacks may present during or after sleep | n2=en:hypotonia, severe, neonatal | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:hypotonia, truncal and appendicular
n1=en:attacks may present during or after sleep | n2=en:hypotonia, truncal and appendicular | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:hypotrophy of type 1 fibers
n1=en:attacks may present during or after sleep | n2=en:hypotrophy of type 1 fibers | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:icelandic families
n1=en:attacks may present during or after sleep | n2=en:icelandic families | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:imaging shows muscle atrophy and fatty replacement
n1=en:attacks may present during or after sleep | n2=en:imaging shows muscle atrophy and fatty replacement | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:imaging shows progressive fatty infiltration of muscle
n1=en:attacks may present during or after sleep | n2=en:imaging shows progressive fatty infiltration of muscle | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:immunologic defects are variable
n1=en:attacks may present during or after sleep | n2=en:immunologic defects are variable | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:impaired heel-walking
n1=en:attacks may present during or after sleep | n2=en:impaired heel-walking | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:impaired mitochondrial respiration
n1=en:attacks may present during or after sleep | n2=en:impaired mitochondrial respiration | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:impaired toe-walking
n1=en:attacks may present during or after sleep | n2=en:impaired toe-walking | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:improvement with age
n1=en:attacks may present during or after sleep | n2=en:improvement with age | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:in general, men have more severe disease than women
n1=en:attacks may present during or after sleep | n2=en:in general, men have more severe disease than women | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:in severe attacks, hemiplegia or coma may last days to weeks
n1=en:attacks may present during or after sleep | n2=en:in severe attacks, hemiplegia or coma may last days to weeks | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:in the absence of hydrops, death occurs within 3 months
n1=en:attacks may present during or after sleep | n2=en:in the absence of hydrops, death occurs within 3 months | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:inability to jump or squat
n1=en:attacks may present during or after sleep | n2=en:inability to jump or squat | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:inability to sit or hold head up
n1=en:attacks may present during or after sleep | n2=en:inability to sit or hold head up | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:inability to stand on tiptoes
n1=en:attacks may present during or after sleep | n2=en:inability to stand on tiptoes | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:inability to stand or walk (in severe cases)
n1=en:attacks may present during or after sleep | n2=en:inability to stand or walk (in severe cases) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:incidence - 1/16,000 live births
n1=en:attacks may present during or after sleep | n2=en:incidence - 1/16,000 live births | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:incidence 1 in 15,000-28,000 births
n1=en:attacks may present during or after sleep | n2=en:incidence 1 in 15,000-28,000 births | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:incidence 1 in 30,000 male births
n1=en:attacks may present during or after sleep | n2=en:incidence 1 in 30,000 male births | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:incidence 1 in 8,000 live births
n1=en:attacks may present during or after sleep | n2=en:incidence 1 in 8,000 live births | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:incidence 1-1.5/1,000 live births
n1=en:attacks may present during or after sleep | n2=en:incidence 1-1.5/1,000 live births | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:incidence 1/100,000 - 1/200,000 live births
n1=en:attacks may present during or after sleep | n2=en:incidence 1/100,000 - 1/200,000 live births | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:incidence 5-50 per million (children) and 10-40 per million (adults)
n1=en:attacks may present during or after sleep | n2=en:incidence 5-50 per million (children) and 10-40 per million (adults) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:incidence 8/1,000 newborns
n1=en:attacks may present during or after sleep | n2=en:incidence 8/1,000 newborns | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:incidence is estimated to be between 1 in 2,000 and 1 in 7,000 live births
n1=en:attacks may present during or after sleep | n2=en:incidence is estimated to be between 1 in 2,000 and 1 in 7,000 live births | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:incidence of 1 in 1.5 million births
n1=en:attacks may present during or after sleep | n2=en:incidence of 1 in 1.5 million births | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:incidence of 1 in 10,000 live births
n1=en:attacks may present during or after sleep | n2=en:incidence of 1 in 10,000 live births | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:incidence of 1 in 10,000 to 1 in 20,000
n1=en:attacks may present during or after sleep | n2=en:incidence of 1 in 10,000 to 1 in 20,000 | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:incidence of 1 in 100,000 births
n1=en:attacks may present during or after sleep | n2=en:incidence of 1 in 100,000 births | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:incidence of 1 in 100,000 to 125,000 at birth
n1=en:attacks may present during or after sleep | n2=en:incidence of 1 in 100,000 to 125,000 at birth | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:incidence of 1 in 120,000 live births
n1=en:attacks may present during or after sleep | n2=en:incidence of 1 in 120,000 live births | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:incidence of 1 in 25,000 livebirths
n1=en:attacks may present during or after sleep | n2=en:incidence of 1 in 25,000 livebirths | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:incidence of 1 in 250,000 births
n1=en:attacks may present during or after sleep | n2=en:incidence of 1 in 250,000 births | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:incidence of 1 in 3,500 boys
n1=en:attacks may present during or after sleep | n2=en:incidence of 1 in 3,500 boys | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:incidence of 1 in 300,000
n1=en:attacks may present during or after sleep | n2=en:incidence of 1 in 300,000 | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:incidence of 1 in 39,000
n1=en:attacks may present during or after sleep | n2=en:incidence of 1 in 39,000 | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:incidence of 1 in 5,000 to 1 in 10,000
n1=en:attacks may present during or after sleep | n2=en:incidence of 1 in 5,000 to 1 in 10,000 | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:incidence of 1 in 50,000 to 1 in 100,000
n1=en:attacks may present during or after sleep | n2=en:incidence of 1 in 50,000 to 1 in 100,000 | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:incidence of 1 in 57,000
n1=en:attacks may present during or after sleep | n2=en:incidence of 1 in 57,000 | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:incidence ranges from 1 in 40,000 to 1 in 350,000 births
n1=en:attacks may present during or after sleep | n2=en:incidence ranges from 1 in 40,000 to 1 in 350,000 births | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:incidence worldwide of 1 in 30,000 to 50,000
n1=en:attacks may present during or after sleep | n2=en:incidence worldwide of 1 in 30,000 to 50,000 | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:incidence, 1 in 500 heterozygotes, 1 in 1,000,000 homozygotes
n1=en:attacks may present during or after sleep | n2=en:incidence, 1 in 500 heterozygotes, 1 in 1,000,000 homozygotes | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:inclusion body myopathy
n1=en:attacks may present during or after sleep | n2=en:inclusion body myopathy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:inclusions form a lobulated structure seen on electron microscopy
n1=en:attacks may present during or after sleep | n2=en:inclusions form a lobulated structure seen on electron microscopy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:incomplete penetrance
n1=en:attacks may present during or after sleep | n2=en:incomplete penetrance | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:incomplete penetrance (50%)
n1=en:attacks may present during or after sleep | n2=en:incomplete penetrance (50%) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:incomplete penetrance (range 13% to 77% by 50 years of age)
n1=en:attacks may present during or after sleep | n2=en:incomplete penetrance (range 13% to 77% by 50 years of age) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:incomplete penetrance in carrier females
n1=en:attacks may present during or after sleep | n2=en:incomplete penetrance in carrier females | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:incomplete penetrance in some families
n1=en:attacks may present during or after sleep | n2=en:incomplete penetrance in some families | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:incomplete penetrance of optic atrophy
n1=en:attacks may present during or after sleep | n2=en:incomplete penetrance of optic atrophy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:incomplete penetrance with 45 to 51 repeats
n1=en:attacks may present during or after sleep | n2=en:incomplete penetrance with 45 to 51 repeats | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:incomplete, but high, penetrance
n1=en:attacks may present during or after sleep | n2=en:incomplete, but high, penetrance | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:increased adipose fibrosis
n1=en:attacks may present during or after sleep | n2=en:increased adipose fibrosis | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:increased aneuploidy in offspring
n1=en:attacks may present during or after sleep | n2=en:increased aneuploidy in offspring | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:increased central nucleation
n1=en:attacks may present during or after sleep | n2=en:increased central nucleation | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:increased centralized internal nuclei
n1=en:attacks may present during or after sleep | n2=en:increased centralized internal nuclei | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:increased centralized nuclei
n1=en:attacks may present during or after sleep | n2=en:increased centralized nuclei | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:increased connective tissue
n1=en:attacks may present during or after sleep | n2=en:increased connective tissue | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:increased connective tissue (in some patients)
n1=en:attacks may present during or after sleep | n2=en:increased connective tissue (in some patients) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:increased connective tissue and fat
n1=en:attacks may present during or after sleep | n2=en:increased connective tissue and fat | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:increased connective tissue and fat in muscles
n1=en:attacks may present during or after sleep | n2=en:increased connective tissue and fat in muscles | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:increased endo- and perimysial connective tissue
n1=en:attacks may present during or after sleep | n2=en:increased endo- and perimysial connective tissue | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:increased endomysial connective tissue around muscle fibers
n1=en:attacks may present during or after sleep | n2=en:increased endomysial connective tissue around muscle fibers | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:increased endomysial fibrosis
n1=en:attacks may present during or after sleep | n2=en:increased endomysial fibrosis | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:increased fat and fibrous tissue
n1=en:attacks may present during or after sleep | n2=en:increased fat and fibrous tissue | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:increased fatigue
n1=en:attacks may present during or after sleep | n2=en:increased fatigue | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:increased fatty and connective tissue in skeletal muscle
n1=en:attacks may present during or after sleep | n2=en:increased fatty and connective tissue in skeletal muscle | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:increased fatty infiltration
n1=en:attacks may present during or after sleep | n2=en:increased fatty infiltration | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:increased fiber size variability
n1=en:attacks may present during or after sleep | n2=en:increased fiber size variability | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:increased fibrosis (family a)
n1=en:attacks may present during or after sleep | n2=en:increased fibrosis (family a) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:increased fibrosis (in some patients)
n1=en:attacks may present during or after sleep | n2=en:increased fibrosis (in some patients) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:increased focal mitochondrial density
n1=en:attacks may present during or after sleep | n2=en:increased focal mitochondrial density | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:increased glycogen
n1=en:attacks may present during or after sleep | n2=en:increased glycogen | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:increased glycogen in muscle
n1=en:attacks may present during or after sleep | n2=en:increased glycogen in muscle | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:increased glycogen in muscle (but to a lesser extent than in the heart)
n1=en:attacks may present during or after sleep | n2=en:increased glycogen in muscle (but to a lesser extent than in the heart) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:increased incidence in asian countries (e.g., 1.46 per 10,000 live births in taiwan)
n1=en:attacks may present during or after sleep | n2=en:increased incidence in asian countries (e.g., 1.46 per 10,000 live births in taiwan) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:increased intermyofibrillar and subsarcolemmal glycogen
n1=en:attacks may present during or after sleep | n2=en:increased intermyofibrillar and subsarcolemmal glycogen | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:increased internal nuclei
n1=en:attacks may present during or after sleep | n2=en:increased internal nuclei | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:increased internal nuclei (in some patients)
n1=en:attacks may present during or after sleep | n2=en:increased internal nuclei (in some patients) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:increased internal nuclei in skeletal muscle fibers
n1=en:attacks may present during or after sleep | n2=en:increased internal nuclei in skeletal muscle fibers | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:increased intraabdominal fat
n1=en:attacks may present during or after sleep | n2=en:increased intraabdominal fat | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:increased intramuscular fat
n1=en:attacks may present during or after sleep | n2=en:increased intramuscular fat | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:increased length of endplate regions seen on muscle biopsy
n1=en:attacks may present during or after sleep | n2=en:increased length of endplate regions seen on muscle biopsy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:increased lipid
n1=en:attacks may present during or after sleep | n2=en:increased lipid | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:increased lipid droplets and abnormal mitochondria
n1=en:attacks may present during or after sleep | n2=en:increased lipid droplets and abnormal mitochondria | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:increased lysosomal glycogen
n1=en:attacks may present during or after sleep | n2=en:increased lysosomal glycogen | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:increased male to female ratio (7.5:1)
n1=en:attacks may present during or after sleep | n2=en:increased male to female ratio (7.5:1) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:increased mitochondria seen on muscle biopsy
n1=en:attacks may present during or after sleep | n2=en:increased mitochondria seen on muscle biopsy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:increased mitochondria with abnormal cristae
n1=en:attacks may present during or after sleep | n2=en:increased mitochondria with abnormal cristae | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:increased mitochondria with rare paracrystalline inclusions
n1=en:attacks may present during or after sleep | n2=en:increased mitochondria with rare paracrystalline inclusions | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:increased muscle glycogen content
n1=en:attacks may present during or after sleep | n2=en:increased muscle glycogen content | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:increased muscle lipid content
n1=en:attacks may present during or after sleep | n2=en:increased muscle lipid content | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:increased muscle tone (early in life)
n1=en:attacks may present during or after sleep | n2=en:increased muscle tone (early in life) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:increased muscle tone at birth
n1=en:attacks may present during or after sleep | n2=en:increased muscle tone at birth | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:increased numbers of abnormally-shaped mitochondria in subsarcolemmal areas
n1=en:attacks may present during or after sleep | n2=en:increased numbers of abnormally-shaped mitochondria in subsarcolemmal areas | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:increased numbers of type 1 fibers
n1=en:attacks may present during or after sleep | n2=en:increased numbers of type 1 fibers | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:increased paternal age
n1=en:attacks may present during or after sleep | n2=en:increased paternal age | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:increased perisarcolemmal calcium deposition
n1=en:attacks may present during or after sleep | n2=en:increased perisarcolemmal calcium deposition | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:increased recurrence risk with parental translocation
n1=en:attacks may present during or after sleep | n2=en:increased recurrence risk with parental translocation | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:increased risk of developing early-onset aggressive cancers
n1=en:attacks may present during or after sleep | n2=en:increased risk of developing early-onset aggressive cancers | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:increased risk of early death
n1=en:attacks may present during or after sleep | n2=en:increased risk of early death | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:increased risk of myeloproliferative disorders in those with somatic mutations
n1=en:attacks may present during or after sleep | n2=en:increased risk of myeloproliferative disorders in those with somatic mutations | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:increased sensitivity to valproic acid toxicity
n1=en:attacks may present during or after sleep | n2=en:increased sensitivity to valproic acid toxicity | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:increased staining for myotilin, dystrophin, desmin
n1=en:attacks may present during or after sleep | n2=en:increased staining for myotilin, dystrophin, desmin | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:increased subcutaneous truncal adipose tissue
n1=en:attacks may present during or after sleep | n2=en:increased subcutaneous truncal adipose tissue | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:increased susceptibility to malignant hyperthermia
n1=en:attacks may present during or after sleep | n2=en:increased susceptibility to malignant hyperthermia | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:increased susceptibility to multiple carcinomas
n1=en:attacks may present during or after sleep | n2=en:increased susceptibility to multiple carcinomas | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:increased variability in muscle fiber diameter
n1=en:attacks may present during or after sleep | n2=en:increased variability in muscle fiber diameter | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:increased variability of fiber size seen on muscle biopsy
n1=en:attacks may present during or after sleep | n2=en:increased variability of fiber size seen on muscle biopsy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:increased variation in fiber size (in some patients)
n1=en:attacks may present during or after sleep | n2=en:increased variation in fiber size (in some patients) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:increased variation in fiber size seen on muscle biopsy
n1=en:attacks may present during or after sleep | n2=en:increased variation in fiber size seen on muscle biopsy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:increased variation in muscle fiber diameter
n1=en:attacks may present during or after sleep | n2=en:increased variation in muscle fiber diameter | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:indentations or folds of the sarcolemma are connected to the membranes enclosing the vacuoles
n1=en:attacks may present during or after sleep | n2=en:indentations or folds of the sarcolemma are connected to the membranes enclosing the vacuoles | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:independent ambulation is maintained
n1=en:attacks may present during or after sleep | n2=en:independent ambulation is maintained | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:independent walking may not be achieved
n1=en:attacks may present during or after sleep | n2=en:independent walking may not be achieved | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:individuals do not develop erythrocytosis under hypoxic conditions
n1=en:attacks may present during or after sleep | n2=en:individuals do not develop erythrocytosis under hypoxic conditions | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:infantile axial hypotonia
n1=en:attacks may present during or after sleep | n2=en:infantile axial hypotonia | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:infantile form accounts for 90% of cases
n1=en:attacks may present during or after sleep | n2=en:infantile form accounts for 90% of cases | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:infantile form has onset within first 6 months of life
n1=en:attacks may present during or after sleep | n2=en:infantile form has onset within first 6 months of life | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:infantile onset
n1=en:attacks may present during or after sleep | n2=en:infantile onset | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:infantile onset with hepatic involvement
n1=en:attacks may present during or after sleep | n2=en:infantile onset with hepatic involvement | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:infantile, late-infantile, juvenile, and adult onset have been reported
n1=en:attacks may present during or after sleep | n2=en:infantile, late-infantile, juvenile, and adult onset have been reported | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:infants are stillborn or die shortly after birth
n1=en:attacks may present during or after sleep | n2=en:infants are stillborn or die shortly after birth | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:infants may have acute life-threatening crises
n1=en:attacks may present during or after sleep | n2=en:infants may have acute life-threatening crises | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:infants show normal size and appearance
n1=en:attacks may present during or after sleep | n2=en:infants show normal size and appearance | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:infections may precipitate ketotic episodes
n1=en:attacks may present during or after sleep | n2=en:infections may precipitate ketotic episodes | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:inflammatory arthritis may develop in 30% of patients
n1=en:attacks may present during or after sleep | n2=en:inflammatory arthritis may develop in 30% of patients | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:inflammatory bowel disease may develop in childhood or adolescence
n1=en:attacks may present during or after sleep | n2=en:inflammatory bowel disease may develop in childhood or adolescence | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:inflammatory cells absent
n1=en:attacks may present during or after sleep | n2=en:inflammatory cells absent | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:inheritance pattern is unclear
n1=en:attacks may present during or after sleep | n2=en:inheritance pattern is unclear | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:initial development may appear normal
n1=en:attacks may present during or after sleep | n2=en:initial development may appear normal | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:initial hearing loss is mild progressing to severe or profound by the seventh decade
n1=en:attacks may present during or after sleep | n2=en:initial hearing loss is mild progressing to severe or profound by the seventh decade | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:initially normal rod responses may become significantly reduced at older age
n1=en:attacks may present during or after sleep | n2=en:initially normal rod responses may become significantly reduced at older age | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:insidious onset
n1=en:attacks may present during or after sleep | n2=en:insidious onset | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:intellectual regression and loss of speech precede the onset of motor retardation by more than 10 years
n1=en:attacks may present during or after sleep | n2=en:intellectual regression and loss of speech precede the onset of motor retardation by more than 10 years | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:interfamilial and intrafamilial clinical heterogeneity
n1=en:attacks may present during or after sleep | n2=en:interfamilial and intrafamilial clinical heterogeneity | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:interfibrillar and subsarcolemmal vacuoles
n1=en:attacks may present during or after sleep | n2=en:interfibrillar and subsarcolemmal vacuoles | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:intermediate expression in females
n1=en:attacks may present during or after sleep | n2=en:intermediate expression in females | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:intermittent exacerbations
n1=en:attacks may present during or after sleep | n2=en:intermittent exacerbations | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:intermyofibrillar and subsarcolemmal accumulation of electron-dense material (in some patients)
n1=en:attacks may present during or after sleep | n2=en:intermyofibrillar and subsarcolemmal accumulation of electron-dense material (in some patients) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:intermyofibrillar and subsarcolemmal granulofilamentous protein aggregates
n1=en:attacks may present during or after sleep | n2=en:intermyofibrillar and subsarcolemmal granulofilamentous protein aggregates | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:internal nuclei
n1=en:attacks may present during or after sleep | n2=en:internal nuclei | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:internal nuclei (in some patients)
n1=en:attacks may present during or after sleep | n2=en:internal nuclei (in some patients) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:internal nuclei seen on biopsy (in some patients)
n1=en:attacks may present during or after sleep | n2=en:internal nuclei seen on biopsy (in some patients) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:internal nuclei seen on muscle biopsy
n1=en:attacks may present during or after sleep | n2=en:internal nuclei seen on muscle biopsy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:internal organ rupture may occur
n1=en:attacks may present during or after sleep | n2=en:internal organ rupture may occur | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:interosseus muscles involved
n1=en:attacks may present during or after sleep | n2=en:interosseus muscles involved | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:intracellular accumulation of material can occur in neuronal and nonneuronal cells
n1=en:attacks may present during or after sleep | n2=en:intracellular accumulation of material can occur in neuronal and nonneuronal cells | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:intrafamilial phenotypic variability ranging from transient or permanent neonatal diabetes (610582) to mody (616329) to impaired fasting glucose or impaired glucose tolerance
n1=en:attacks may present during or after sleep | n2=en:intrafamilial phenotypic variability ranging from transient or permanent neonatal diabetes (610582) to mody (616329) to impaired fasting glucose or impaired glucose tolerance | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:intrafamilial phenotypic variability, ranging from bilateral to unilateral foot involvement to no split-foot malformation
n1=en:attacks may present during or after sleep | n2=en:intrafamilial phenotypic variability, ranging from bilateral to unilateral foot involvement to no split-foot malformation | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:intrafamilial phenotypic variation may occur
n1=en:attacks may present during or after sleep | n2=en:intrafamilial phenotypic variation may occur | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:intrafamilial variability in degree of hypotrichosis
n1=en:attacks may present during or after sleep | n2=en:intrafamilial variability in degree of hypotrichosis | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:intrafamilial variability in nail changes
n1=en:attacks may present during or after sleep | n2=en:intrafamilial variability in nail changes | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:intrafamilial variability in number of missing teeth
n1=en:attacks may present during or after sleep | n2=en:intrafamilial variability in number of missing teeth | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:intrafamilial variability in severity of hypothyroidism
n1=en:attacks may present during or after sleep | n2=en:intrafamilial variability in severity of hypothyroidism | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:intrasarcoplasmic dense granulofilamentous aggregates that are immunoreactive with desmin
n1=en:attacks may present during or after sleep | n2=en:intrasarcoplasmic dense granulofilamentous aggregates that are immunoreactive with desmin | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:involves upper and lower proximal muscles
n1=en:attacks may present during or after sleep | n2=en:involves upper and lower proximal muscles | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:isolated finding
n1=en:attacks may present during or after sleep | n2=en:isolated finding | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:itch, pain, and body malodor often
n1=en:attacks may present during or after sleep | n2=en:itch, pain, and body malodor often | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:jitter
n1=en:attacks may present during or after sleep | n2=en:jitter | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:joint laxity decreases with age
n1=en:attacks may present during or after sleep | n2=en:joint laxity decreases with age | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:joint pain
n1=en:attacks may present during or after sleep | n2=en:joint pain | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:joint symptoms begin in third or fourth decade
n1=en:attacks may present during or after sleep | n2=en:joint symptoms begin in third or fourth decade | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:juvenile form has onset between 4 and 19 years
n1=en:attacks may present during or after sleep | n2=en:juvenile form has onset between 4 and 19 years | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:juvenile onset 4 years to puberty
n1=en:attacks may present during or after sleep | n2=en:juvenile onset 4 years to puberty | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:juvenile rigid early-onset form more often paternally inherited
n1=en:attacks may present during or after sleep | n2=en:juvenile rigid early-onset form more often paternally inherited | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:ketogenic diet may be effective
n1=en:attacks may present during or after sleep | n2=en:ketogenic diet may be effective | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:knee and hip flexor weakness due to peripheral neuropathy
n1=en:attacks may present during or after sleep | n2=en:knee and hip flexor weakness due to peripheral neuropathy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:l-dopa-induced dyskinesias
n1=en:attacks may present during or after sleep | n2=en:l-dopa-induced dyskinesias | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:lack of adipose tissue on limbs and femorogluteal regions
n1=en:attacks may present during or after sleep | n2=en:lack of adipose tissue on limbs and femorogluteal regions | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:lack of antigravity movements (patient b)
n1=en:attacks may present during or after sleep | n2=en:lack of antigravity movements (patient b) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:lack of integrin alpha-7 staining
n1=en:attacks may present during or after sleep | n2=en:lack of integrin alpha-7 staining | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:lack of treatment results in early death
n1=en:attacks may present during or after sleep | n2=en:lack of treatment results in early death | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:lafora bodies (accumulation of polyglucosan) seen on skeletal muscle biopsy
n1=en:attacks may present during or after sleep | n2=en:lafora bodies (accumulation of polyglucosan) seen on skeletal muscle biopsy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:large hypertrophied fibers
n1=en:attacks may present during or after sleep | n2=en:large hypertrophied fibers | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:large lipid droplets
n1=en:attacks may present during or after sleep | n2=en:large lipid droplets | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:late adult onset (after age 55 years)
n1=en:attacks may present during or after sleep | n2=en:late adult onset (after age 55 years) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:late infantile onset 6-24 months
n1=en:attacks may present during or after sleep | n2=en:late infantile onset 6-24 months | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:late-adult onset
n1=en:attacks may present during or after sleep | n2=en:late-adult onset | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:late-adult onset (fifth to sixth decade)
n1=en:attacks may present during or after sleep | n2=en:late-adult onset (fifth to sixth decade) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:late-adult onset (usually after age 50 years)
n1=en:attacks may present during or after sleep | n2=en:late-adult onset (usually after age 50 years) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:late-adult onset has been reported
n1=en:attacks may present during or after sleep | n2=en:late-adult onset has been reported | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:late-onset, slowly progressing form of retinitis pigmentosa
n1=en:attacks may present during or after sleep | n2=en:late-onset, slowly progressing form of retinitis pigmentosa | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:later onset (late childhood to young adult) has been reported
n1=en:attacks may present during or after sleep | n2=en:later onset (late childhood to young adult) has been reported | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:later onset can also occur (up to age 17 years)
n1=en:attacks may present during or after sleep | n2=en:later onset can also occur (up to age 17 years) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:later onset has been reported
n1=en:attacks may present during or after sleep | n2=en:later onset has been reported | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:later onset in females
n1=en:attacks may present during or after sleep | n2=en:later onset in females | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:later onset may occur
n1=en:attacks may present during or after sleep | n2=en:later onset may occur | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:later onset of hearing loss in some patients
n1=en:attacks may present during or after sleep | n2=en:later onset of hearing loss in some patients | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:later onset of neurologic features
n1=en:attacks may present during or after sleep | n2=en:later onset of neurologic features | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:later onset of optic atrophy (mean 19 years, range 5 to 50 years)
n1=en:attacks may present during or after sleep | n2=en:later onset of optic atrophy (mean 19 years, range 5 to 50 years) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:leakage of fluid ('gusher') if the stapes is disturbed
n1=en:attacks may present during or after sleep | n2=en:leakage of fluid ('gusher') if the stapes is disturbed | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:left side involvement more frequent than right side involvement
n1=en:attacks may present during or after sleep | n2=en:left side involvement more frequent than right side involvement | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:left sided involvement occurs more frequently
n1=en:attacks may present during or after sleep | n2=en:left sided involvement occurs more frequently | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:leg cramps may occur with exercise
n1=en:attacks may present during or after sleep | n2=en:leg cramps may occur with exercise | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:leg pain during childhood
n1=en:attacks may present during or after sleep | n2=en:leg pain during childhood | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:length of attack, 3 to 7 days
n1=en:attacks may present during or after sleep | n2=en:length of attack, 3 to 7 days | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:lesions apparent at birth
n1=en:attacks may present during or after sleep | n2=en:lesions apparent at birth | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:lesions are present at birth or become apparent in infancy
n1=en:attacks may present during or after sleep | n2=en:lesions are present at birth or become apparent in infancy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:lesions continue to grow until epiphyseal plate closure
n1=en:attacks may present during or after sleep | n2=en:lesions continue to grow until epiphyseal plate closure | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:lesions increase in size and number with age
n1=en:attacks may present during or after sleep | n2=en:lesions increase in size and number with age | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:lesions provoked by friction, sun exposure, heat, and injury
n1=en:attacks may present during or after sleep | n2=en:lesions provoked by friction, sun exposure, heat, and injury | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:less than 20% have onset at 18 years of age or less (dominant and recessive)
n1=en:attacks may present during or after sleep | n2=en:less than 20% have onset at 18 years of age or less (dominant and recessive) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:lethal
n1=en:attacks may present during or after sleep | n2=en:lethal | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:lethal in males
n1=en:attacks may present during or after sleep | n2=en:lethal in males | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:lethal in utero or perinatal lethal
n1=en:attacks may present during or after sleep | n2=en:lethal in utero or perinatal lethal | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:levator palpebrae superioris atrophy
n1=en:attacks may present during or after sleep | n2=en:levator palpebrae superioris atrophy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:levodopa-induced dyskinesias
n1=en:attacks may present during or after sleep | n2=en:levodopa-induced dyskinesias | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:life-threatening infections
n1=en:attacks may present during or after sleep | n2=en:life-threatening infections | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:lifelong occurrence
n1=en:attacks may present during or after sleep | n2=en:lifelong occurrence | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:lifetime risk of breast cancer in mutation carriers is 60 to 85%
n1=en:attacks may present during or after sleep | n2=en:lifetime risk of breast cancer in mutation carriers is 60 to 85% | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:lifetime risk of ovarian cancer in mutation carriers is 10 to 20%
n1=en:attacks may present during or after sleep | n2=en:lifetime risk of ovarian cancer in mutation carriers is 10 to 20% | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:likely allelic to sc phocomelia syndrome (269000)
n1=en:attacks may present during or after sleep | n2=en:likely allelic to sc phocomelia syndrome (269000) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:limb lymphedema (in some patients)
n1=en:attacks may present during or after sleep | n2=en:limb lymphedema (in some patients) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:limb malformations are variable
n1=en:attacks may present during or after sleep | n2=en:limb malformations are variable | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:limb muscle weakness and atrophy, distal, neurogenic
n1=en:attacks may present during or after sleep | n2=en:limb muscle weakness and atrophy, distal, neurogenic | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:limb muscle weakness, proximal, upper and lower
n1=en:attacks may present during or after sleep | n2=en:limb muscle weakness, proximal, upper and lower | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:limb muscular atrophy
n1=en:attacks may present during or after sleep | n2=en:limb muscular atrophy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:limb weakness and atrophy
n1=en:attacks may present during or after sleep | n2=en:limb weakness and atrophy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:limb weakness, proximal followed by distal
n1=en:attacks may present during or after sleep | n2=en:limb weakness, proximal followed by distal | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:limb-girdle muscle atrophy
n1=en:attacks may present during or after sleep | n2=en:limb-girdle muscle atrophy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:limb-girdle muscle weakness (2 families)
n1=en:attacks may present during or after sleep | n2=en:limb-girdle muscle weakness (2 families) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:limb-girdle muscle weakness, proximal, upper greater than lower
n1=en:attacks may present during or after sleep | n2=en:limb-girdle muscle weakness, proximal, upper greater than lower | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:limb-girdle myopathy
n1=en:attacks may present during or after sleep | n2=en:limb-girdle myopathy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:lipid accumulation in muscle tissue
n1=en:attacks may present during or after sleep | n2=en:lipid accumulation in muscle tissue | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:lipid and glycogen accumulation
n1=en:attacks may present during or after sleep | n2=en:lipid and glycogen accumulation | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:lipid droplet accumulation
n1=en:attacks may present during or after sleep | n2=en:lipid droplet accumulation | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:lipid droplets seen on muscle biopsy
n1=en:attacks may present during or after sleep | n2=en:lipid droplets seen on muscle biopsy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:lipid storage, mainly in type i fibers
n1=en:attacks may present during or after sleep | n2=en:lipid storage, mainly in type i fibers | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:lipoatrophic appearance
n1=en:attacks may present during or after sleep | n2=en:lipoatrophic appearance | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:lipoatrophy (lower face, upper limb, buttock)
n1=en:attacks may present during or after sleep | n2=en:lipoatrophy (lower face, upper limb, buttock) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:lipoatrophy of trunk
n1=en:attacks may present during or after sleep | n2=en:lipoatrophy of trunk | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:lipoatrophy, generalized
n1=en:attacks may present during or after sleep | n2=en:lipoatrophy, generalized | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:lipodystrophic appearance may be mild or not present
n1=en:attacks may present during or after sleep | n2=en:lipodystrophic appearance may be mild or not present | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:lipodystrophy (in some patients)
n1=en:attacks may present during or after sleep | n2=en:lipodystrophy (in some patients) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:lipodystrophy, generalized, panniculitis-induced (in some)
n1=en:attacks may present during or after sleep | n2=en:lipodystrophy, generalized, panniculitis-induced (in some) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:lipohypoplasia, regional
n1=en:attacks may present during or after sleep | n2=en:lipohypoplasia, regional | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:lipoma
n1=en:attacks may present during or after sleep | n2=en:lipoma | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:lipomas or lipomatous masses (most cases)
n1=en:attacks may present during or after sleep | n2=en:lipomas or lipomatous masses (most cases) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:live born infants die within few hours of birth
n1=en:attacks may present during or after sleep | n2=en:live born infants die within few hours of birth | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:liveborn often die within first week of life
n1=en:attacks may present during or after sleep | n2=en:liveborn often die within first week of life | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:liver disease may be the most predominant finding
n1=en:attacks may present during or after sleep | n2=en:liver disease may be the most predominant finding | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:liver size returns to normal after 3 months to 3 years
n1=en:attacks may present during or after sleep | n2=en:liver size returns to normal after 3 months to 3 years | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:liver symptoms improve with age and disappear after puberty
n1=en:attacks may present during or after sleep | n2=en:liver symptoms improve with age and disappear after puberty | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:long headache duration (greater than 12 hours)
n1=en:attacks may present during or after sleep | n2=en:long headache duration (greater than 12 hours) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:loss of ability to walk in early childhood
n1=en:attacks may present during or after sleep | n2=en:loss of ability to walk in early childhood | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:loss of adipose tissue occurs around puberty
n1=en:attacks may present during or after sleep | n2=en:loss of adipose tissue occurs around puberty | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:loss of ambulation
n1=en:attacks may present during or after sleep | n2=en:loss of ambulation | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:loss of ambulation (in some patients)
n1=en:attacks may present during or after sleep | n2=en:loss of ambulation (in some patients) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:loss of ambulation between third and sixth decade
n1=en:attacks may present during or after sleep | n2=en:loss of ambulation between third and sixth decade | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:loss of antigravity strength
n1=en:attacks may present during or after sleep | n2=en:loss of antigravity strength | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:loss of gluteal adipose tissue
n1=en:attacks may present during or after sleep | n2=en:loss of gluteal adipose tissue | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:loss of independent ambulation (in 2 of 3 patients)
n1=en:attacks may present during or after sleep | n2=en:loss of independent ambulation (in 2 of 3 patients) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:loss of independent ambulation around age 12 years
n1=en:attacks may present during or after sleep | n2=en:loss of independent ambulation around age 12 years | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:loss of independent ambulation in the second decade
n1=en:attacks may present during or after sleep | n2=en:loss of independent ambulation in the second decade | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:loss of lower-limb tendon reflexes
n1=en:attacks may present during or after sleep | n2=en:loss of lower-limb tendon reflexes | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:loss of sarcomeric striations
n1=en:attacks may present during or after sleep | n2=en:loss of sarcomeric striations | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:loss of subcutaneous adipose tissue from gluteal region
n1=en:attacks may present during or after sleep | n2=en:loss of subcutaneous adipose tissue from gluteal region | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:loss of subcutaneous adipose tissue from upper limbs and trunk
n1=en:attacks may present during or after sleep | n2=en:loss of subcutaneous adipose tissue from upper limbs and trunk | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:loss of subcutaneous adipose tissue in limbs
n1=en:attacks may present during or after sleep | n2=en:loss of subcutaneous adipose tissue in limbs | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:loss of subcutaneous adipose tissue primarily in gluteal region and lower limbs
n1=en:attacks may present during or after sleep | n2=en:loss of subcutaneous adipose tissue primarily in gluteal region and lower limbs | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:loss of subcutaneous and visceral adipose tissue, mild
n1=en:attacks may present during or after sleep | n2=en:loss of subcutaneous and visceral adipose tissue, mild | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:loss of subcutaneous fat, generalized
n1=en:attacks may present during or after sleep | n2=en:loss of subcutaneous fat, generalized | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:loss of subcutaneous fat, particularly affecting the limbs
n1=en:attacks may present during or after sleep | n2=en:loss of subcutaneous fat, particularly affecting the limbs | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:loss of truncal subcutaneous adipose tissue
n1=en:attacks may present during or after sleep | n2=en:loss of truncal subcutaneous adipose tissue | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:loss of tumor suppressor gene
n1=en:attacks may present during or after sleep | n2=en:loss of tumor suppressor gene | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:low maximum workload on exercise testing
n1=en:attacks may present during or after sleep | n2=en:low maximum workload on exercise testing | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:low muscle mass
n1=en:attacks may present during or after sleep | n2=en:low muscle mass | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:lower and upper limbs affected
n1=en:attacks may present during or after sleep | n2=en:lower and upper limbs affected | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:lower limb involvement occurs before upper limb involvement
n1=en:attacks may present during or after sleep | n2=en:lower limb involvement occurs before upper limb involvement | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:lower limb muscle atrophy (in 2 of 3 families)
n1=en:attacks may present during or after sleep | n2=en:lower limb muscle atrophy (in 2 of 3 families) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:lower limb muscle hypotrophy
n1=en:attacks may present during or after sleep | n2=en:lower limb muscle hypotrophy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:lower limb muscle weakness (in 2 of 3 families)
n1=en:attacks may present during or after sleep | n2=en:lower limb muscle weakness (in 2 of 3 families) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:lower limb weakness is presenting feature
n1=en:attacks may present during or after sleep | n2=en:lower limb weakness is presenting feature | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:lower limbs more often affected
n1=en:attacks may present during or after sleep | n2=en:lower limbs more often affected | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:lymphangitis, episodic
n1=en:attacks may present during or after sleep | n2=en:lymphangitis, episodic | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:lymphedema (lower limb)
n1=en:attacks may present during or after sleep | n2=en:lymphedema (lower limb) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:lymphedema (primarily in lower limbs, but also arms in some patients)
n1=en:attacks may present during or after sleep | n2=en:lymphedema (primarily in lower limbs, but also arms in some patients) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:lymphedema of lower limbs (in some patients)
n1=en:attacks may present during or after sleep | n2=en:lymphedema of lower limbs (in some patients) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:lymphedema of the extremities
n1=en:attacks may present during or after sleep | n2=en:lymphedema of the extremities | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:lymphedema of the hands (in some patients)
n1=en:attacks may present during or after sleep | n2=en:lymphedema of the hands (in some patients) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:lymphedema of the lower limbs (swelling is confined to below the knees)
n1=en:attacks may present during or after sleep | n2=en:lymphedema of the lower limbs (swelling is confined to below the knees) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:lymphedema of upper and/or lower limbs (in some patients)
n1=en:attacks may present during or after sleep | n2=en:lymphedema of upper and/or lower limbs (in some patients) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:lymphedema, dorsa of feet
n1=en:attacks may present during or after sleep | n2=en:lymphedema, dorsa of feet | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:lymphedema, hands (rare)
n1=en:attacks may present during or after sleep | n2=en:lymphedema, hands (rare) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:lymphedema, of upper and/or lower extremity (rare)
n1=en:attacks may present during or after sleep | n2=en:lymphedema, of upper and/or lower extremity (rare) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:lymphography shows hypoplasia of lymphatic vessels
n1=en:attacks may present during or after sleep | n2=en:lymphography shows hypoplasia of lymphatic vessels | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:lymphography shows increased number of dilated lymphatic vessels (hyperplasia)
n1=en:attacks may present during or after sleep | n2=en:lymphography shows increased number of dilated lymphatic vessels (hyperplasia) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:lymphoscintigraphy shows impaired lymphatic uptake and drainage
n1=en:attacks may present during or after sleep | n2=en:lymphoscintigraphy shows impaired lymphatic uptake and drainage | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:macies
n1=en:attacks may present during or after sleep | n2=en:macies | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:macroglossia
n1=en:attacks may present during or after sleep | n2=en:macroglossia | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:madelung deformity more frequent and more severe in females
n1=en:attacks may present during or after sleep | n2=en:madelung deformity more frequent and more severe in females | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:major cause of death is heart failure
n1=en:attacks may present during or after sleep | n2=en:major cause of death is heart failure | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:major fluid shifts may occur in severe cases
n1=en:attacks may present during or after sleep | n2=en:major fluid shifts may occur in severe cases | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:major physical defect
n1=en:attacks may present during or after sleep | n2=en:major physical defect | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:majority are isolated cases
n1=en:attacks may present during or after sleep | n2=en:majority are isolated cases | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:majority are stillborn or die in early neonatal period
n1=en:attacks may present during or after sleep | n2=en:majority are stillborn or die in early neonatal period | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:majority die in neonatal period secondary to respiratory insufficiency
n1=en:attacks may present during or after sleep | n2=en:majority die in neonatal period secondary to respiratory insufficiency | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:majority of cases (95%) are sporadic
n1=en:attacks may present during or after sleep | n2=en:majority of cases (95%) are sporadic | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:majority of cases are male
n1=en:attacks may present during or after sleep | n2=en:majority of cases are male | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:majority of cases are sporadic, often in tall, thin men
n1=en:attacks may present during or after sleep | n2=en:majority of cases are sporadic, often in tall, thin men | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:majority of cases diagnosed at age 10-15 years
n1=en:attacks may present during or after sleep | n2=en:majority of cases diagnosed at age 10-15 years | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:majority of cases have been sporadic
n1=en:attacks may present during or after sleep | n2=en:majority of cases have been sporadic | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:majority of cases sporadic
n1=en:attacks may present during or after sleep | n2=en:majority of cases sporadic | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:majority of children die before age 2
n1=en:attacks may present during or after sleep | n2=en:majority of children die before age 2 | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:majority of children die between 6 months and 5 yrs
n1=en:attacks may present during or after sleep | n2=en:majority of children die between 6 months and 5 yrs | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:majority of patients are ambulatory
n1=en:attacks may present during or after sleep | n2=en:majority of patients are ambulatory | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:majority of patients are stillborn or die before 5 months of age
n1=en:attacks may present during or after sleep | n2=en:majority of patients are stillborn or die before 5 months of age | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:majority of patients die in neonatal period secondary to respiratory insufficiency
n1=en:attacks may present during or after sleep | n2=en:majority of patients die in neonatal period secondary to respiratory insufficiency | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:majority of patients have normal intelligence
n1=en:attacks may present during or after sleep | n2=en:majority of patients have normal intelligence | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:male patients have more severe disease than female patients
n1=en:attacks may present during or after sleep | n2=en:male patients have more severe disease than female patients | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:male predominance of 3:1 to 5:1
n1=en:attacks may present during or after sleep | n2=en:male predominance of 3:1 to 5:1 | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:male to female ratio 4:1
n1=en:attacks may present during or after sleep | n2=en:male to female ratio 4:1 | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:male to female ratio is greater than 3:1
n1=en:attacks may present during or after sleep | n2=en:male to female ratio is greater than 3:1 | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:male-to-female ratio of 3:2 in childhood cases
n1=en:attacks may present during or after sleep | n2=en:male-to-female ratio of 3:2 in childhood cases | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:male-to-female ratio, 1.8 to 1
n1=en:attacks may present during or after sleep | n2=en:male-to-female ratio, 1.8 to 1 | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:males are more severely affected
n1=en:attacks may present during or after sleep | n2=en:males are more severely affected | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:males are most severely affected, but females can also be affected
n1=en:attacks may present during or after sleep | n2=en:males are most severely affected, but females can also be affected | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:males carry mutations in the somatic mosaic state
n1=en:attacks may present during or after sleep | n2=en:males carry mutations in the somatic mosaic state | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:males may be more affected than females
n1=en:attacks may present during or after sleep | n2=en:males may be more affected than females | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:males more affected than females (2 to 2.5:1)
n1=en:attacks may present during or after sleep | n2=en:males more affected than females (2 to 2.5:1) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:males tend to have earlier onset than females
n1=en:attacks may present during or after sleep | n2=en:males tend to have earlier onset than females | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:mallory-like bodies
n1=en:attacks may present during or after sleep | n2=en:mallory-like bodies | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:management of homocystinuria includes low methionine, cystine supplemented diet for pyridoxine nonresponders and pyridoxine supplementation for pyridoxine responders
n1=en:attacks may present during or after sleep | n2=en:management of homocystinuria includes low methionine, cystine supplemented diet for pyridoxine nonresponders and pyridoxine supplementation for pyridoxine responders | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:manifestations continue to appear until 5th decade
n1=en:attacks may present during or after sleep | n2=en:manifestations continue to appear until 5th decade | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:manifests in infancy (including neonatal lethal) or childhood
n1=en:attacks may present during or after sleep | n2=en:manifests in infancy (including neonatal lethal) or childhood | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:many adults with typical form remain ambulatory
n1=en:attacks may present during or after sleep | n2=en:many adults with typical form remain ambulatory | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:many cases are asymptomatic
n1=en:attacks may present during or after sleep | n2=en:many cases are asymptomatic | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:many cases due to de novo mutation
n1=en:attacks may present during or after sleep | n2=en:many cases due to de novo mutation | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:many features are present only in an untreated patient
n1=en:attacks may present during or after sleep | n2=en:many features are present only in an untreated patient | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:many fibers with internal nuclei
n1=en:attacks may present during or after sleep | n2=en:many fibers with internal nuclei | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:many patients become wheelchair-bound
n1=en:attacks may present during or after sleep | n2=en:many patients become wheelchair-bound | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:many patients lose independent mobility after 25 years
n1=en:attacks may present during or after sleep | n2=en:many patients lose independent mobility after 25 years | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:many patients require cardiac pacemakers
n1=en:attacks may present during or after sleep | n2=en:many patients require cardiac pacemakers | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:marked clinical variability within families
n1=en:attacks may present during or after sleep | n2=en:marked clinical variability within families | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:marked heterogeneity
n1=en:attacks may present during or after sleep | n2=en:marked heterogeneity | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:marked intrafamilial and interfamilial variability
n1=en:attacks may present during or after sleep | n2=en:marked intrafamilial and interfamilial variability | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:marked intrafamilial variability of clinical features
n1=en:attacks may present during or after sleep | n2=en:marked intrafamilial variability of clinical features | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:marked lack of adipose tissue
n1=en:attacks may present during or after sleep | n2=en:marked lack of adipose tissue | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:marked loss of subcutaneous fat in the limbs, face, and sometimes chest
n1=en:attacks may present during or after sleep | n2=en:marked loss of subcutaneous fat in the limbs, face, and sometimes chest | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:marked muscular hypertrophy
n1=en:attacks may present during or after sleep | n2=en:marked muscular hypertrophy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:marked phenotypic variability, even within an individual
n1=en:attacks may present during or after sleep | n2=en:marked phenotypic variability, even within an individual | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:marked predominance of slow-twitch, oxidative (type 1) muscle fibers
n1=en:attacks may present during or after sleep | n2=en:marked predominance of slow-twitch, oxidative (type 1) muscle fibers | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:marked variability of fiber size
n1=en:attacks may present during or after sleep | n2=en:marked variability of fiber size | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:marked variation in severity - severe early onset disease (neonatal period) and milder juvenile disease (onset 8-13 years)
n1=en:attacks may present during or after sleep | n2=en:marked variation in severity - severe early onset disease (neonatal period) and milder juvenile disease (onset 8-13 years) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:maternal anticipation bias
n1=en:attacks may present during or after sleep | n2=en:maternal anticipation bias | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:maternal imprinting
n1=en:attacks may present during or after sleep | n2=en:maternal imprinting | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:maternal oligohydramnios
n1=en:attacks may present during or after sleep | n2=en:maternal oligohydramnios | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:may be asymptomatic
n1=en:attacks may present during or after sleep | n2=en:may be asymptomatic | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:may be due to imprinting defect
n1=en:attacks may present during or after sleep | n2=en:may be due to imprinting defect | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:may be fatal in infancy
n1=en:attacks may present during or after sleep | n2=en:may be fatal in infancy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:may be lethal if untreated
n1=en:attacks may present during or after sleep | n2=en:may be lethal if untreated | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:may be lethal in the neonatal period
n1=en:attacks may present during or after sleep | n2=en:may be lethal in the neonatal period | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:may be precipitated by minor illness (e.g., viral infection, fever)
n1=en:attacks may present during or after sleep | n2=en:may be precipitated by minor illness (e.g., viral infection, fever) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:may be progressive
n1=en:attacks may present during or after sleep | n2=en:may be progressive | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:may be triggered by medications, including antineoplastic agents, immunotherapeutic agents, and antiplatelet agents
n1=en:attacks may present during or after sleep | n2=en:may be triggered by medications, including antineoplastic agents, immunotherapeutic agents, and antiplatelet agents | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:may be triggered by minor head trauma
n1=en:attacks may present during or after sleep | n2=en:may be triggered by minor head trauma | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:may fade with age
n1=en:attacks may present during or after sleep | n2=en:may fade with age | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:may have seasonal variance in severity
n1=en:attacks may present during or after sleep | n2=en:may have seasonal variance in severity | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:may manifest as late-onset 'parkinsonian' phenotype without severe ataxic features
n1=en:attacks may present during or after sleep | n2=en:may manifest as late-onset 'parkinsonian' phenotype without severe ataxic features | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:may not be clinically manifest until middle life
n1=en:attacks may present during or after sleep | n2=en:may not be clinically manifest until middle life | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:may occur in adults (also in pregnancy)
n1=en:attacks may present during or after sleep | n2=en:may occur in adults (also in pregnancy) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:may progress to other body regions after many years
n1=en:attacks may present during or after sleep | n2=en:may progress to other body regions after many years | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:may regress
n1=en:attacks may present during or after sleep | n2=en:may regress | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:may result in death in neonatal period or early childhood
n1=en:attacks may present during or after sleep | n2=en:may result in death in neonatal period or early childhood | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:may result in early death from severe diarrhea
n1=en:attacks may present during or after sleep | n2=en:may result in early death from severe diarrhea | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:may result in sudden death
n1=en:attacks may present during or after sleep | n2=en:may result in sudden death | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:may show good response to levodopa
n1=en:attacks may present during or after sleep | n2=en:may show good response to levodopa | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:mean age at diagnosis 8.8 years (range 0.2-23 years)
n1=en:attacks may present during or after sleep | n2=en:mean age at diagnosis 8.8 years (range 0.2-23 years) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:mean age at onset 10.6 years
n1=en:attacks may present during or after sleep | n2=en:mean age at onset 10.6 years | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:mean age at onset 15.2 years
n1=en:attacks may present during or after sleep | n2=en:mean age at onset 15.2 years | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:mean age at onset 22 years (range 7 to 50 years)
n1=en:attacks may present during or after sleep | n2=en:mean age at onset 22 years (range 7 to 50 years) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:mean age at onset 24 years (range 14 to 33 years)
n1=en:attacks may present during or after sleep | n2=en:mean age at onset 24 years (range 14 to 33 years) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:mean age at onset 28 years
n1=en:attacks may present during or after sleep | n2=en:mean age at onset 28 years | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:mean age at onset 32 years
n1=en:attacks may present during or after sleep | n2=en:mean age at onset 32 years | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:mean age at onset 33 years (range 20-60)
n1=en:attacks may present during or after sleep | n2=en:mean age at onset 33 years (range 20-60) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:mean age at onset 35 years (range 20-60)
n1=en:attacks may present during or after sleep | n2=en:mean age at onset 35 years (range 20-60) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:mean age at onset 46.5 years (range 19-64)
n1=en:attacks may present during or after sleep | n2=en:mean age at onset 46.5 years (range 19-64) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:mean age at onset 57-60 years
n1=en:attacks may present during or after sleep | n2=en:mean age at onset 57-60 years | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:mean age at onset 66.8 years (range 47-77)
n1=en:attacks may present during or after sleep | n2=en:mean age at onset 66.8 years (range 47-77) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:mean age at onset is 13 years (range 6 to 43)
n1=en:attacks may present during or after sleep | n2=en:mean age at onset is 13 years (range 6 to 43) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:mean age at onset of bone fractures, 24 years
n1=en:attacks may present during or after sleep | n2=en:mean age at onset of bone fractures, 24 years | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:mean age at onset of cerebellar ataxia is 52.8 years
n1=en:attacks may present during or after sleep | n2=en:mean age at onset of cerebellar ataxia is 52.8 years | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:mean age at onset of dementia is 57 years
n1=en:attacks may present during or after sleep | n2=en:mean age at onset of dementia is 57 years | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:mean age at onset of hypoglycemia may be delayed (median, 9 months, diagnosis sometimes made in adulthood)
n1=en:attacks may present during or after sleep | n2=en:mean age at onset of hypoglycemia may be delayed (median, 9 months, diagnosis sometimes made in adulthood) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:mean age at onset of migraines is 42 years
n1=en:attacks may present during or after sleep | n2=en:mean age at onset of migraines is 42 years | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:mean age at onset of proximal muscle weakness, 31 years
n1=en:attacks may present during or after sleep | n2=en:mean age at onset of proximal muscle weakness, 31 years | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:mean age at termination 3 to 4 years
n1=en:attacks may present during or after sleep | n2=en:mean age at termination 3 to 4 years | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:mean age of diagnosis 40 years
n1=en:attacks may present during or after sleep | n2=en:mean age of diagnosis 40 years | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:mean age of diagnosis of renal cell carcinoma is 46 years
n1=en:attacks may present during or after sleep | n2=en:mean age of diagnosis of renal cell carcinoma is 46 years | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:mean age of onset 16 to 19 years
n1=en:attacks may present during or after sleep | n2=en:mean age of onset 16 to 19 years | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:mean age of onset 20.6 years
n1=en:attacks may present during or after sleep | n2=en:mean age of onset 20.6 years | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:mean age of onset 22 years (range 5-54)
n1=en:attacks may present during or after sleep | n2=en:mean age of onset 22 years (range 5-54) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:mean age of onset 30 years (range 25-42)
n1=en:attacks may present during or after sleep | n2=en:mean age of onset 30 years (range 25-42) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:mean age of onset 31 years (range 5-60)
n1=en:attacks may present during or after sleep | n2=en:mean age of onset 31 years (range 5-60) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:mean age of onset 35-40 years
n1=en:attacks may present during or after sleep | n2=en:mean age of onset 35-40 years | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:mean age of onset 50 to 52 years
n1=en:attacks may present during or after sleep | n2=en:mean age of onset 50 to 52 years | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:mean age of onset about 62 years (45-79 years)
n1=en:attacks may present during or after sleep | n2=en:mean age of onset about 62 years (45-79 years) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:mean age of onset in third decade
n1=en:attacks may present during or after sleep | n2=en:mean age of onset in third decade | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:mean age of onset, 5 years
n1=en:attacks may present during or after sleep | n2=en:mean age of onset, 5 years | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:mean age of presentation of renal cancer is 50 years, but earlier onset has been reported
n1=en:attacks may present during or after sleep | n2=en:mean age of presentation of renal cancer is 50 years, but earlier onset has been reported | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:mean survival 5 months
n1=en:attacks may present during or after sleep | n2=en:mean survival 5 months | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:medial onset of end stage renal disease 13 years
n1=en:attacks may present during or after sleep | n2=en:medial onset of end stage renal disease 13 years | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:median age at diagnosis, 59 years
n1=en:attacks may present during or after sleep | n2=en:median age at diagnosis, 59 years | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:median age at onset 23 years
n1=en:attacks may present during or after sleep | n2=en:median age at onset 23 years | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:median age at onset of puberty is 5.75 years in affected girls and 8.1 years in affected boys
n1=en:attacks may present during or after sleep | n2=en:median age at onset of puberty is 5.75 years in affected girls and 8.1 years in affected boys | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:median age of diagnosis is 28 years
n1=en:attacks may present during or after sleep | n2=en:median age of diagnosis is 28 years | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:median age of onset of nail dystrophy - 7 years (range 1-6 years)
n1=en:attacks may present during or after sleep | n2=en:median age of onset of nail dystrophy - 7 years (range 1-6 years) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:median age of onset of pigmentation - 8 years (range 1-15 years)
n1=en:attacks may present during or after sleep | n2=en:median age of onset of pigmentation - 8 years (range 1-15 years) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:median onset of neurologic symptoms is 13 years (range 5 to 28)
n1=en:attacks may present during or after sleep | n2=en:median onset of neurologic symptoms is 13 years (range 5 to 28) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:median survival 5.7 years
n1=en:attacks may present during or after sleep | n2=en:median survival 5.7 years | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:median survival is > 50 years
n1=en:attacks may present during or after sleep | n2=en:median survival is > 50 years | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:medullary thyroid cancer is aggressive and can occur in childhood
n1=en:attacks may present during or after sleep | n2=en:medullary thyroid cancer is aggressive and can occur in childhood | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:megaloglossia
n1=en:attacks may present during or after sleep | n2=en:megaloglossia | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:merosin-positive biopsy
n1=en:attacks may present during or after sleep | n2=en:merosin-positive biopsy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:mesomelia becomes more evident with age
n1=en:attacks may present during or after sleep | n2=en:mesomelia becomes more evident with age | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:metabolic encephalomyopathic crises often triggered by infection
n1=en:attacks may present during or after sleep | n2=en:metabolic encephalomyopathic crises often triggered by infection | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:midline defects
n1=en:attacks may present during or after sleep | n2=en:midline defects | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:mild asymmetric regional disease (e.g. 180380.0029)
n1=en:attacks may present during or after sleep | n2=en:mild asymmetric regional disease (e.g. 180380.0029) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:mild atrophy of the proximal lower limbs
n1=en:attacks may present during or after sleep | n2=en:mild atrophy of the proximal lower limbs | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:mild decrease in mitochondrial respiratory chain activity
n1=en:attacks may present during or after sleep | n2=en:mild decrease in mitochondrial respiratory chain activity | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:mild distal muscle atrophy
n1=en:attacks may present during or after sleep | n2=en:mild distal muscle atrophy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:mild endplate myopathy
n1=en:attacks may present during or after sleep | n2=en:mild endplate myopathy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:mild kinetic abnormalities of the achr (in some patients)
n1=en:attacks may present during or after sleep | n2=en:mild kinetic abnormalities of the achr (in some patients) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:mild muscle atrophy in forearm muscles
n1=en:attacks may present during or after sleep | n2=en:mild muscle atrophy in forearm muscles | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:mild proximal muscle weakness (<10% of patients)
n1=en:attacks may present during or after sleep | n2=en:mild proximal muscle weakness (<10% of patients) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:mild variability in muscle fiber size
n1=en:attacks may present during or after sleep | n2=en:mild variability in muscle fiber size | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:mild weakness
n1=en:attacks may present during or after sleep | n2=en:mild weakness | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:mild weakness of the small hand muscles
n1=en:attacks may present during or after sleep | n2=en:mild weakness of the small hand muscles | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:milder cases have isolated recurrent daytime sleepiness and/or lapses into sleep without cataplexy
n1=en:attacks may present during or after sleep | n2=en:milder cases have isolated recurrent daytime sleepiness and/or lapses into sleep without cataplexy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:milder form with onset in childhood, absence seizures, and learning difficulties
n1=en:attacks may present during or after sleep | n2=en:milder form with onset in childhood, absence seizures, and learning difficulties | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:mildly decreased cytochrome c oxidase activity
n1=en:attacks may present during or after sleep | n2=en:mildly decreased cytochrome c oxidase activity | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:mildly increased mtdna
n1=en:attacks may present during or after sleep | n2=en:mildly increased mtdna | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:minicore regions are poorly defined and do not extend through entire fiber length
n1=en:attacks may present during or after sleep | n2=en:minicore regions are poorly defined and do not extend through entire fiber length | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:minicore-like lesions with mitochondrial depletion and sarcomeric disorganization
n1=en:attacks may present during or after sleep | n2=en:minicore-like lesions with mitochondrial depletion and sarcomeric disorganization | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:minicores (in some)
n1=en:attacks may present during or after sleep | n2=en:minicores (in some) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:minicores extend full fiber diameter
n1=en:attacks may present during or after sleep | n2=en:minicores extend full fiber diameter | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:minicores or core-like regions may be present
n1=en:attacks may present during or after sleep | n2=en:minicores or core-like regions may be present | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:minimal muscle mass
n1=en:attacks may present during or after sleep | n2=en:minimal muscle mass | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:minimal subcutaneous fat
n1=en:attacks may present during or after sleep | n2=en:minimal subcutaneous fat | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:minipolymyoclonus
n1=en:attacks may present during or after sleep | n2=en:minipolymyoclonus | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:miscellaneous
n1=en:attacks may present during or after sleep | n2=en:miscellaneous | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:mitochondria are placed at the periphery of muscle fibers
n1=en:attacks may present during or after sleep | n2=en:mitochondria are placed at the periphery of muscle fibers | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:mitochondria show paracrystalline inclusions
n1=en:attacks may present during or after sleep | n2=en:mitochondria show paracrystalline inclusions | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:mitochondrial complex iii deficiency (disorder)
n1=en:attacks may present during or after sleep | n2=en:mitochondrial complex iii deficiency (disorder) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:mitochondrial paracrystalline inclusion bodies
n1=en:attacks may present during or after sleep | n2=en:mitochondrial paracrystalline inclusion bodies | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:mitochondrial proliferation
n1=en:attacks may present during or after sleep | n2=en:mitochondrial proliferation | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:mitochondrial vacuolization seen on muscle biopsy
n1=en:attacks may present during or after sleep | n2=en:mitochondrial vacuolization seen on muscle biopsy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:most patients become wheelchair-bound in the second or third decades
n1=en:attacks may present during or after sleep | n2=en:most patients become wheelchair-bound in the second or third decades | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:motor clumsiness
n1=en:attacks may present during or after sleep | n2=en:motor clumsiness | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:multi-core congenital myopathy
n1=en:attacks may present during or after sleep | n2=en:multi-core congenital myopathy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:multiple mitochondrial respiratory enzymes deficiencies seen on biopsy
n1=en:attacks may present during or after sleep | n2=en:multiple mitochondrial respiratory enzymes deficiencies seen on biopsy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle aches, cramps
n1=en:attacks may present during or after sleep | n2=en:muscle aches, cramps | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle aches, intermittent
n1=en:attacks may present during or after sleep | n2=en:muscle aches, intermittent | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle amyotrophy
n1=en:attacks may present during or after sleep | n2=en:muscle amyotrophy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle atrophy (1 patient)
n1=en:attacks may present during or after sleep | n2=en:muscle atrophy (1 patient) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle atrophy (in some patients)
n1=en:attacks may present during or after sleep | n2=en:muscle atrophy (in some patients) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle atrophy (variable)
n1=en:attacks may present during or after sleep | n2=en:muscle atrophy (variable) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle atrophy affecting the upper back and neck muscles
n1=en:attacks may present during or after sleep | n2=en:muscle atrophy affecting the upper back and neck muscles | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle atrophy appears later in disease course
n1=en:attacks may present during or after sleep | n2=en:muscle atrophy appears later in disease course | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle atrophy in the limbs
n1=en:attacks may present during or after sleep | n2=en:muscle atrophy in the limbs | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle atrophy later in the disease
n1=en:attacks may present during or after sleep | n2=en:muscle atrophy later in the disease | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle atrophy restricted to the upper limb
n1=en:attacks may present during or after sleep | n2=en:muscle atrophy restricted to the upper limb | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle atrophy, diffuse, severe
n1=en:attacks may present during or after sleep | n2=en:muscle atrophy, diffuse, severe | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle atrophy, especially quadriceps and forearm muscles
n1=en:attacks may present during or after sleep | n2=en:muscle atrophy, especially quadriceps and forearm muscles | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle atrophy, limb-girdle and proximal
n1=en:attacks may present during or after sleep | n2=en:muscle atrophy, limb-girdle and proximal | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle atrophy, lower limbs more affected than upper limbs
n1=en:attacks may present during or after sleep | n2=en:muscle atrophy, lower limbs more affected than upper limbs | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle atrophy, mild
n1=en:attacks may present during or after sleep | n2=en:muscle atrophy, mild | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle atrophy, mild, more proximal than distal
n1=en:attacks may present during or after sleep | n2=en:muscle atrophy, mild, more proximal than distal | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle atrophy, primarily in the legs
n1=en:attacks may present during or after sleep | n2=en:muscle atrophy, primarily in the legs | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle atrophy, progressive
n1=en:attacks may present during or after sleep | n2=en:muscle atrophy, progressive | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle atrophy, proximal and distal (predominant lower limb involvement)
n1=en:attacks may present during or after sleep | n2=en:muscle atrophy, proximal and distal (predominant lower limb involvement) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle atrophy, severe
n1=en:attacks may present during or after sleep | n2=en:muscle atrophy, severe | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle atrophy, upper and lower limbs
n1=en:attacks may present during or after sleep | n2=en:muscle atrophy, upper and lower limbs | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle biopsy in acute stage shows increased numbers of abnormal mitochondria
n1=en:attacks may present during or after sleep | n2=en:muscle biopsy in acute stage shows increased numbers of abnormal mitochondria | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle biopsy is immunopositive for merosin (156225)
n1=en:attacks may present during or after sleep | n2=en:muscle biopsy is immunopositive for merosin (156225) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle biopsy may show deficiency of multiple mitochondrial respiratory complexes
n1=en:attacks may present during or after sleep | n2=en:muscle biopsy may show deficiency of multiple mitochondrial respiratory complexes | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle biopsy may show inflammatory changes
n1=en:attacks may present during or after sleep | n2=en:muscle biopsy may show inflammatory changes | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle biopsy shows 'spheroid bodies' in type 1 muscle fibers
n1=en:attacks may present during or after sleep | n2=en:muscle biopsy shows 'spheroid bodies' in type 1 muscle fibers | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle biopsy shows 60-80-nm tubular aggregates arranged in hexagonal arrays in type 2 fibers
n1=en:attacks may present during or after sleep | n2=en:muscle biopsy shows 60-80-nm tubular aggregates arranged in hexagonal arrays in type 2 fibers | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle biopsy shows abnormal fiber size and variation
n1=en:attacks may present during or after sleep | n2=en:muscle biopsy shows abnormal fiber size and variation | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle biopsy shows abnormal mitochondria
n1=en:attacks may present during or after sleep | n2=en:muscle biopsy shows abnormal mitochondria | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle biopsy shows atrophic fibers
n1=en:attacks may present during or after sleep | n2=en:muscle biopsy shows atrophic fibers | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle biopsy shows atrophy
n1=en:attacks may present during or after sleep | n2=en:muscle biopsy shows atrophy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle biopsy shows centralized nuclei
n1=en:attacks may present during or after sleep | n2=en:muscle biopsy shows centralized nuclei | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle biopsy shows chronic and active denervation
n1=en:attacks may present during or after sleep | n2=en:muscle biopsy shows chronic and active denervation | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle biopsy shows core-like regions devoid of oxidative activity
n1=en:attacks may present during or after sleep | n2=en:muscle biopsy shows core-like regions devoid of oxidative activity | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle biopsy shows cytochrome c oxidase-negative fibers
n1=en:attacks may present during or after sleep | n2=en:muscle biopsy shows cytochrome c oxidase-negative fibers | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle biopsy shows decrease or absence of cytochrome c oxidase
n1=en:attacks may present during or after sleep | n2=en:muscle biopsy shows decrease or absence of cytochrome c oxidase | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle biopsy shows decreased activity of cytochrome c oxidase
n1=en:attacks may present during or after sleep | n2=en:muscle biopsy shows decreased activity of cytochrome c oxidase | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle biopsy shows decreased glycosylation of alpha-dystroglycan
n1=en:attacks may present during or after sleep | n2=en:muscle biopsy shows decreased glycosylation of alpha-dystroglycan | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle biopsy shows decreased muscle-specific phosphorylase kinase activity
n1=en:attacks may present during or after sleep | n2=en:muscle biopsy shows decreased muscle-specific phosphorylase kinase activity | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle biopsy shows decreased or absent dysferlin staining
n1=en:attacks may present during or after sleep | n2=en:muscle biopsy shows decreased or absent dysferlin staining | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle biopsy shows degenerating endplates and junctional folds
n1=en:attacks may present during or after sleep | n2=en:muscle biopsy shows degenerating endplates and junctional folds | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle biopsy shows degeneration of muscle fibers, variation in fiber size, fiber splitting, rimmed vacuoles, and central myonuclei
n1=en:attacks may present during or after sleep | n2=en:muscle biopsy shows degeneration of muscle fibers, variation in fiber size, fiber splitting, rimmed vacuoles, and central myonuclei | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle biopsy shows disruption of the sarcolemmal membrane
n1=en:attacks may present during or after sleep | n2=en:muscle biopsy shows disruption of the sarcolemmal membrane | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle biopsy shows dystrophic changes
n1=en:attacks may present during or after sleep | n2=en:muscle biopsy shows dystrophic changes | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle biopsy shows dystrophic features
n1=en:attacks may present during or after sleep | n2=en:muscle biopsy shows dystrophic features | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle biopsy shows dystrophic features (later in disease course)
n1=en:attacks may present during or after sleep | n2=en:muscle biopsy shows dystrophic features (later in disease course) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle biopsy shows dystrophic pattern
n1=en:attacks may present during or after sleep | n2=en:muscle biopsy shows dystrophic pattern | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle biopsy shows fiber type disproportion
n1=en:attacks may present during or after sleep | n2=en:muscle biopsy shows fiber type disproportion | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle biopsy shows fiber type variation (in some patients)
n1=en:attacks may present during or after sleep | n2=en:muscle biopsy shows fiber type variation (in some patients) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle biopsy shows fibrosis and increased connective tissue
n1=en:attacks may present during or after sleep | n2=en:muscle biopsy shows fibrosis and increased connective tissue | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle biopsy shows glycogen accumulation in myofibrils and lysosomes
n1=en:attacks may present during or after sleep | n2=en:muscle biopsy shows glycogen accumulation in myofibrils and lysosomes | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle biopsy shows glycogen storage
n1=en:attacks may present during or after sleep | n2=en:muscle biopsy shows glycogen storage | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle biopsy shows grouped atrophy
n1=en:attacks may present during or after sleep | n2=en:muscle biopsy shows grouped atrophy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle biopsy shows groups of small angulated fibers consistent with denervation
n1=en:attacks may present during or after sleep | n2=en:muscle biopsy shows groups of small angulated fibers consistent with denervation | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle biopsy shows hypoglycosylation of alpha-dystroglycan
n1=en:attacks may present during or after sleep | n2=en:muscle biopsy shows hypoglycosylation of alpha-dystroglycan | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle biopsy shows hypotrophy of type 1 muscle fibers
n1=en:attacks may present during or after sleep | n2=en:muscle biopsy shows hypotrophy of type 1 muscle fibers | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle biopsy shows increased subsarcolemmal vacuolar glycogen accumulation
n1=en:attacks may present during or after sleep | n2=en:muscle biopsy shows increased subsarcolemmal vacuolar glycogen accumulation | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle biopsy shows increased variation in fiber size
n1=en:attacks may present during or after sleep | n2=en:muscle biopsy shows increased variation in fiber size | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle biopsy shows intranuclear tubulofilamentous inclusions
n1=en:attacks may present during or after sleep | n2=en:muscle biopsy shows intranuclear tubulofilamentous inclusions | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle biopsy shows lipid deposition
n1=en:attacks may present during or after sleep | n2=en:muscle biopsy shows lipid deposition | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle biopsy shows lipid droplets
n1=en:attacks may present during or after sleep | n2=en:muscle biopsy shows lipid droplets | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle biopsy shows loss of myofibrillar organization
n1=en:attacks may present during or after sleep | n2=en:muscle biopsy shows loss of myofibrillar organization | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle biopsy shows loss of type 2a fibers
n1=en:attacks may present during or after sleep | n2=en:muscle biopsy shows loss of type 2a fibers | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle biopsy shows merosin (156225)-positive muscle fibers
n1=en:attacks may present during or after sleep | n2=en:muscle biopsy shows merosin (156225)-positive muscle fibers | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle biopsy shows mild dystrophic changes
n1=en:attacks may present during or after sleep | n2=en:muscle biopsy shows mild dystrophic changes | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle biopsy shows mitochondrial aggregates
n1=en:attacks may present during or after sleep | n2=en:muscle biopsy shows mitochondrial aggregates | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle biopsy shows mitochondrial paracrystalline inclusions
n1=en:attacks may present during or after sleep | n2=en:muscle biopsy shows mitochondrial paracrystalline inclusions | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle biopsy shows myodegenerative changes with beta-amyloid and phosphorylated tau deposits
n1=en:attacks may present during or after sleep | n2=en:muscle biopsy shows myodegenerative changes with beta-amyloid and phosphorylated tau deposits | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle biopsy shows myofiber degeneration
n1=en:attacks may present during or after sleep | n2=en:muscle biopsy shows myofiber degeneration | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle biopsy shows myofibrillar changes
n1=en:attacks may present during or after sleep | n2=en:muscle biopsy shows myofibrillar changes | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle biopsy shows myofibrillar disruption
n1=en:attacks may present during or after sleep | n2=en:muscle biopsy shows myofibrillar disruption | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle biopsy shows myofibrillar myopathy
n1=en:attacks may present during or after sleep | n2=en:muscle biopsy shows myofibrillar myopathy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle biopsy shows myopathic changes
n1=en:attacks may present during or after sleep | n2=en:muscle biopsy shows myopathic changes | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle biopsy shows myopathic or dystrophic changes
n1=en:attacks may present during or after sleep | n2=en:muscle biopsy shows myopathic or dystrophic changes | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle biopsy shows necrotic and atrophic fibers with centralized nuclei
n1=en:attacks may present during or after sleep | n2=en:muscle biopsy shows necrotic and atrophic fibers with centralized nuclei | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle biopsy shows necrotic and regenerating fibers
n1=en:attacks may present during or after sleep | n2=en:muscle biopsy shows necrotic and regenerating fibers | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle biopsy shows nemaline rods
n1=en:attacks may present during or after sleep | n2=en:muscle biopsy shows nemaline rods | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle biopsy shows neurogenic atrophy
n1=en:attacks may present during or after sleep | n2=en:muscle biopsy shows neurogenic atrophy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle biopsy shows neurogenic atrophy (1 patient)
n1=en:attacks may present during or after sleep | n2=en:muscle biopsy shows neurogenic atrophy (1 patient) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle biopsy shows neurogenic atrophy affecting both fibers types
n1=en:attacks may present during or after sleep | n2=en:muscle biopsy shows neurogenic atrophy affecting both fibers types | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle biopsy shows no dystrophic changes
n1=en:attacks may present during or after sleep | n2=en:muscle biopsy shows no dystrophic changes | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle biopsy shows nonspecific myopathic changes
n1=en:attacks may present during or after sleep | n2=en:muscle biopsy shows nonspecific myopathic changes | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle biopsy shows nonspecific myopathic changes without dystrophic or inflammatory changes
n1=en:attacks may present during or after sleep | n2=en:muscle biopsy shows nonspecific myopathic changes without dystrophic or inflammatory changes | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle biopsy shows peripheral accumulation of abnormal mitochondria
n1=en:attacks may present during or after sleep | n2=en:muscle biopsy shows peripheral accumulation of abnormal mitochondria | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle biopsy shows ragged red fibers
n1=en:attacks may present during or after sleep | n2=en:muscle biopsy shows ragged red fibers | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle biopsy shows rimmed vacuoles
n1=en:attacks may present during or after sleep | n2=en:muscle biopsy shows rimmed vacuoles | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle biopsy shows sarcoplasmic rods in myofibers
n1=en:attacks may present during or after sleep | n2=en:muscle biopsy shows sarcoplasmic rods in myofibers | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle biopsy shows small fibers with central nuclei and accumulation of mitochondria in the central part of the fibers
n1=en:attacks may present during or after sleep | n2=en:muscle biopsy shows small fibers with central nuclei and accumulation of mitochondria in the central part of the fibers | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle biopsy shows small rounded fibers
n1=en:attacks may present during or after sleep | n2=en:muscle biopsy shows small rounded fibers | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle biopsy shows small, membrane-bound vacuoles predominantly in type 2 fibers
n1=en:attacks may present during or after sleep | n2=en:muscle biopsy shows small, membrane-bound vacuoles predominantly in type 2 fibers | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle biopsy shows type 1 fiber predominance
n1=en:attacks may present during or after sleep | n2=en:muscle biopsy shows type 1 fiber predominance | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle biopsy shows type 1 fiber predominance and hypertrophy
n1=en:attacks may present during or after sleep | n2=en:muscle biopsy shows type 1 fiber predominance and hypertrophy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle biopsy shows type 2 fiber atrophy
n1=en:attacks may present during or after sleep | n2=en:muscle biopsy shows type 2 fiber atrophy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle biopsy shows variation in fiber size
n1=en:attacks may present during or after sleep | n2=en:muscle biopsy shows variation in fiber size | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle cramps (also seen in some heterozygotes)
n1=en:attacks may present during or after sleep | n2=en:muscle cramps (also seen in some heterozygotes) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle cramps affect the upper and lower limbs
n1=en:attacks may present during or after sleep | n2=en:muscle cramps affect the upper and lower limbs | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle cramps during exercise
n1=en:attacks may present during or after sleep | n2=en:muscle cramps during exercise | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle cramps may affect jaw muscles
n1=en:attacks may present during or after sleep | n2=en:muscle cramps may affect jaw muscles | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle cramps, painful, recurrent
n1=en:attacks may present during or after sleep | n2=en:muscle cramps, painful, recurrent | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle fatigability
n1=en:attacks may present during or after sleep | n2=en:muscle fatigability | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle fiber atrophy, profound (rare)
n1=en:attacks may present during or after sleep | n2=en:muscle fiber atrophy, profound (rare) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle fiber necrosis
n1=en:attacks may present during or after sleep | n2=en:muscle fiber necrosis | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle fiber regeneration
n1=en:attacks may present during or after sleep | n2=en:muscle fiber regeneration | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle fiber splitting
n1=en:attacks may present during or after sleep | n2=en:muscle fiber splitting | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle fiber splitting (in some patients)
n1=en:attacks may present during or after sleep | n2=en:muscle fiber splitting (in some patients) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle fiber splitting and fibrosis seen on muscle biopsy
n1=en:attacks may present during or after sleep | n2=en:muscle fiber splitting and fibrosis seen on muscle biopsy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle fibers appear as fetal myotubules
n1=en:attacks may present during or after sleep | n2=en:muscle fibers appear as fetal myotubules | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle fibers are immunoreactive for desmin and vimentin
n1=en:attacks may present during or after sleep | n2=en:muscle fibers are immunoreactive for desmin and vimentin | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle fibers contain internal nuclei
n1=en:attacks may present during or after sleep | n2=en:muscle fibers contain internal nuclei | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle fibers may contain abnormal polysaccharide
n1=en:attacks may present during or after sleep | n2=en:muscle fibers may contain abnormal polysaccharide | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle hyperirritability
n1=en:attacks may present during or after sleep | n2=en:muscle hyperirritability | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle hypertrophy in affected area
n1=en:attacks may present during or after sleep | n2=en:muscle hypertrophy in affected area | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle hypertrophy of the lower extremities
n1=en:attacks may present during or after sleep | n2=en:muscle hypertrophy of the lower extremities | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle mitochondria normal by histochemical analysis
n1=en:attacks may present during or after sleep | n2=en:muscle mitochondria normal by histochemical analysis | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle mounding
n1=en:attacks may present during or after sleep | n2=en:muscle mounding | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle pain (less common)
n1=en:attacks may present during or after sleep | n2=en:muscle pain (less common) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle pain after exercise
n1=en:attacks may present during or after sleep | n2=en:muscle pain after exercise | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle pain and cramping on exertion
n1=en:attacks may present during or after sleep | n2=en:muscle pain and cramping on exertion | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle pain and cramps following exercise
n1=en:attacks may present during or after sleep | n2=en:muscle pain and cramps following exercise | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle pain with exercise (in older patients)
n1=en:attacks may present during or after sleep | n2=en:muscle pain with exercise (in older patients) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle paralysis, episodic
n1=en:attacks may present during or after sleep | n2=en:muscle paralysis, episodic | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle shows lipid accumulation
n1=en:attacks may present during or after sleep | n2=en:muscle shows lipid accumulation | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle stiffness (in older patients)
n1=en:attacks may present during or after sleep | n2=en:muscle stiffness (in older patients) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle stiffness or aching
n1=en:attacks may present during or after sleep | n2=en:muscle stiffness or aching | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle strength and bulk is preserved
n1=en:attacks may present during or after sleep | n2=en:muscle strength and bulk is preserved | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle twitch
n1=en:attacks may present during or after sleep | n2=en:muscle twitch | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle wasting (especially legs and arms)
n1=en:attacks may present during or after sleep | n2=en:muscle wasting (especially legs and arms) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle wasting due to chronic denervation
n1=en:attacks may present during or after sleep | n2=en:muscle wasting due to chronic denervation | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle wasting in lower limbs
n1=en:attacks may present during or after sleep | n2=en:muscle wasting in lower limbs | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle wasting, severe, primarily in the legs
n1=en:attacks may present during or after sleep | n2=en:muscle wasting, severe, primarily in the legs | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle weakness (1 patient)
n1=en:attacks may present during or after sleep | n2=en:muscle weakness (1 patient) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle weakness (hcs)
n1=en:attacks may present during or after sleep | n2=en:muscle weakness (hcs) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle weakness (in 90% of patients)
n1=en:attacks may present during or after sleep | n2=en:muscle weakness (in 90% of patients) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle weakness (in some patients)
n1=en:attacks may present during or after sleep | n2=en:muscle weakness (in some patients) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle weakness after cooling or on warming affected muscle
n1=en:attacks may present during or after sleep | n2=en:muscle weakness after cooling or on warming affected muscle | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle weakness and atrophy
n1=en:attacks may present during or after sleep | n2=en:muscle weakness and atrophy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle weakness and atrophy may be asymmetric
n1=en:attacks may present during or after sleep | n2=en:muscle weakness and atrophy may be asymmetric | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle weakness and atrophy, distal
n1=en:attacks may present during or after sleep | n2=en:muscle weakness and atrophy, distal | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle weakness and atrophy, progressive
n1=en:attacks may present during or after sleep | n2=en:muscle weakness and atrophy, progressive | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle weakness and atrophy, proximal
n1=en:attacks may present during or after sleep | n2=en:muscle weakness and atrophy, proximal | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle weakness associated with fasting or infection
n1=en:attacks may present during or after sleep | n2=en:muscle weakness associated with fasting or infection | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle weakness due to peripheral neuropathy
n1=en:attacks may present during or after sleep | n2=en:muscle weakness due to peripheral neuropathy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle weakness following prolonged exercise
n1=en:attacks may present during or after sleep | n2=en:muscle weakness following prolonged exercise | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle weakness in forearm muscles
n1=en:attacks may present during or after sleep | n2=en:muscle weakness in forearm muscles | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle weakness is not a feature
n1=en:attacks may present during or after sleep | n2=en:muscle weakness is not a feature | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle weakness is predominantly of extremities and tongue
n1=en:attacks may present during or after sleep | n2=en:muscle weakness is predominantly of extremities and tongue | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle weakness may affect upper limbs
n1=en:attacks may present during or after sleep | n2=en:muscle weakness may affect upper limbs | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle weakness of proximal and distal upper and lower limbs
n1=en:attacks may present during or after sleep | n2=en:muscle weakness of proximal and distal upper and lower limbs | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle weakness of the face and neck, mild to moderate
n1=en:attacks may present during or after sleep | n2=en:muscle weakness of the face and neck, mild to moderate | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle weakness restricted to the upper limb
n1=en:attacks may present during or after sleep | n2=en:muscle weakness restricted to the upper limb | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle weakness usually does not occur
n1=en:attacks may present during or after sleep | n2=en:muscle weakness usually does not occur | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle weakness, congenital
n1=en:attacks may present during or after sleep | n2=en:muscle weakness, congenital | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle weakness, distal (in some patients)
n1=en:attacks may present during or after sleep | n2=en:muscle weakness, distal (in some patients) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle weakness, distal more than proximal
n1=en:attacks may present during or after sleep | n2=en:muscle weakness, distal more than proximal | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle weakness, distal, particularly affecting the hands
n1=en:attacks may present during or after sleep | n2=en:muscle weakness, distal, particularly affecting the hands | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle weakness, distal, restricted to the lower limbs
n1=en:attacks may present during or after sleep | n2=en:muscle weakness, distal, restricted to the lower limbs | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle weakness, episodic
n1=en:attacks may present during or after sleep | n2=en:muscle weakness, episodic | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle weakness, hypokalemia-related
n1=en:attacks may present during or after sleep | n2=en:muscle weakness, hypokalemia-related | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle weakness, limb-girdle (lower and upper limbs may be affected)
n1=en:attacks may present during or after sleep | n2=en:muscle weakness, limb-girdle (lower and upper limbs may be affected) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle weakness, limb-girdle, mild
n1=en:attacks may present during or after sleep | n2=en:muscle weakness, limb-girdle, mild | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle weakness, lower limbs (patient a)
n1=en:attacks may present during or after sleep | n2=en:muscle weakness, lower limbs (patient a) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle weakness, lower limbs, during exercise
n1=en:attacks may present during or after sleep | n2=en:muscle weakness, lower limbs, during exercise | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle weakness, mainly proximal and axial
n1=en:attacks may present during or after sleep | n2=en:muscle weakness, mainly proximal and axial | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle weakness, mild, proximal and distal
n1=en:attacks may present during or after sleep | n2=en:muscle weakness, mild, proximal and distal | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle weakness, particularly of the lower limbs
n1=en:attacks may present during or after sleep | n2=en:muscle weakness, particularly of the lower limbs | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle weakness, predominantly proximal
n1=en:attacks may present during or after sleep | n2=en:muscle weakness, predominantly proximal | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle weakness, predominantly proximal (in some patients)
n1=en:attacks may present during or after sleep | n2=en:muscle weakness, predominantly proximal (in some patients) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle weakness, primarily proximal
n1=en:attacks may present during or after sleep | n2=en:muscle weakness, primarily proximal | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle weakness, proximal and distal
n1=en:attacks may present during or after sleep | n2=en:muscle weakness, proximal and distal | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle weakness, proximal and distal (predominant lower limb involvement)
n1=en:attacks may present during or after sleep | n2=en:muscle weakness, proximal and distal (predominant lower limb involvement) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle weakness, proximal and distal, affecting upper and lower limbs
n1=en:attacks may present during or after sleep | n2=en:muscle weakness, proximal and distal, affecting upper and lower limbs | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle weakness, proximal greater than distal
n1=en:attacks may present during or after sleep | n2=en:muscle weakness, proximal greater than distal | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle weakness, proximal limb muscle, mild to moderate
n1=en:attacks may present during or after sleep | n2=en:muscle weakness, proximal limb muscle, mild to moderate | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle weakness, proximal, distal, and axial, severe
n1=en:attacks may present during or after sleep | n2=en:muscle weakness, proximal, distal, and axial, severe | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle weakness, proximal, limb-girdle
n1=en:attacks may present during or after sleep | n2=en:muscle weakness, proximal, limb-girdle | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle weakness, proximal, lower limbs (upper limbs may become affected later)
n1=en:attacks may present during or after sleep | n2=en:muscle weakness, proximal, lower limbs (upper limbs may become affected later) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle weakness, proximal, pelvic girdle (in severe cases)
n1=en:attacks may present during or after sleep | n2=en:muscle weakness, proximal, pelvic girdle (in severe cases) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle weakness, proximal, slowly progressive
n1=en:attacks may present during or after sleep | n2=en:muscle weakness, proximal, slowly progressive | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle weakness, proximal, upper and lower limbs affected
n1=en:attacks may present during or after sleep | n2=en:muscle weakness, proximal, upper and lower limbs affected | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle weakness, severe
n1=en:attacks may present during or after sleep | n2=en:muscle weakness, severe | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle weakness, severe, axial and proximal predominance
n1=en:attacks may present during or after sleep | n2=en:muscle weakness, severe, axial and proximal predominance | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle weakness, severe, diffuse
n1=en:attacks may present during or after sleep | n2=en:muscle weakness, severe, diffuse | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle weakness, severe, proximal and distal
n1=en:attacks may present during or after sleep | n2=en:muscle weakness, severe, proximal and distal | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle weakness, symmetric, proximal, lower limbs
n1=en:attacks may present during or after sleep | n2=en:muscle weakness, symmetric, proximal, lower limbs | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscle weakness, upper and lower limbs
n1=en:attacks may present during or after sleep | n2=en:muscle weakness, upper and lower limbs | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscles become hard and tender during exercise
n1=en:attacks may present during or after sleep | n2=en:muscles become hard and tender during exercise | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscles do not contract upon electrical stimulation
n1=en:attacks may present during or after sleep | n2=en:muscles do not contract upon electrical stimulation | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscles have a woody consistency on palpation
n1=en:attacks may present during or after sleep | n2=en:muscles have a woody consistency on palpation | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscular appearance
n1=en:attacks may present during or after sleep | n2=en:muscular appearance | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscular dystrophy (in 1 of 3 patients)
n1=en:attacks may present during or after sleep | n2=en:muscular dystrophy (in 1 of 3 patients) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscular dystrophy (in some patients)
n1=en:attacks may present during or after sleep | n2=en:muscular dystrophy (in some patients) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscular dystrophy with variable age of onset (infancy to young adult)
n1=en:attacks may present during or after sleep | n2=en:muscular dystrophy with variable age of onset (infancy to young adult) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscular fasciculation
n1=en:attacks may present during or after sleep | n2=en:muscular fasciculation | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscular hypotonia of the trunk
n1=en:attacks may present during or after sleep | n2=en:muscular hypotonia of the trunk | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:muscular weakness
n1=en:attacks may present during or after sleep | n2=en:muscular weakness | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:myalgia (in some patients)
n1=en:attacks may present during or after sleep | n2=en:myalgia (in some patients) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:myalgia with febrile episodes (rare)
n1=en:attacks may present during or after sleep | n2=en:myalgia with febrile episodes (rare) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:myalgia, episodic
n1=en:attacks may present during or after sleep | n2=en:myalgia, episodic | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:myoclonic spasms
n1=en:attacks may present during or after sleep | n2=en:myoclonic spasms | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:myofibril destruction (in some patients)
n1=en:attacks may present during or after sleep | n2=en:myofibril destruction (in some patients) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:myofibrillar disintegration
n1=en:attacks may present during or after sleep | n2=en:myofibrillar disintegration | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:myofibrillar disorganization
n1=en:attacks may present during or after sleep | n2=en:myofibrillar disorganization | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:myofibrillar lesions
n1=en:attacks may present during or after sleep | n2=en:myofibrillar lesions | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:myofibromatosis
n1=en:attacks may present during or after sleep | n2=en:myofibromatosis | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:myofibromatosis affecting skin, muscle, bone, and viscera
n1=en:attacks may present during or after sleep | n2=en:myofibromatosis affecting skin, muscle, bone, and viscera | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:myogenic profile on electromyography
n1=en:attacks may present during or after sleep | n2=en:myogenic profile on electromyography | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:myokymia
n1=en:attacks may present during or after sleep | n2=en:myokymia | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:myopathic changes on pathology
n1=en:attacks may present during or after sleep | n2=en:myopathic changes on pathology | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:myopathic changes seen muscle biopsy
n1=en:attacks may present during or after sleep | n2=en:myopathic changes seen muscle biopsy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:myopathic changes seen on biopsy
n1=en:attacks may present during or after sleep | n2=en:myopathic changes seen on biopsy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:myopathic episodes triggered by exercise, fasting, infection, cold temperatures
n1=en:attacks may present during or after sleep | n2=en:myopathic episodes triggered by exercise, fasting, infection, cold temperatures | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:myopathic features seen on biopsy
n1=en:attacks may present during or after sleep | n2=en:myopathic features seen on biopsy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:myopathic features seen on emg
n1=en:attacks may present during or after sleep | n2=en:myopathic features seen on emg | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:myopathic findings on biopsy have been occasionally reported
n1=en:attacks may present during or after sleep | n2=en:myopathic findings on biopsy have been occasionally reported | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:myopathy (in some patients)
n1=en:attacks may present during or after sleep | n2=en:myopathy (in some patients) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:myopathy (rare)
n1=en:attacks may present during or after sleep | n2=en:myopathy (rare) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:myopathy in approximately 45% of patients
n1=en:attacks may present during or after sleep | n2=en:myopathy in approximately 45% of patients | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:myopathy, mild
n1=en:attacks may present during or after sleep | n2=en:myopathy, mild | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:myopathy, mild to severe
n1=en:attacks may present during or after sleep | n2=en:myopathy, mild to severe | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:myopathy, nonprogressive
n1=en:attacks may present during or after sleep | n2=en:myopathy, nonprogressive | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:myosin storage myopathy (in some patients)
n1=en:attacks may present during or after sleep | n2=en:myosin storage myopathy (in some patients) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:myositis (in some patients)
n1=en:attacks may present during or after sleep | n2=en:myositis (in some patients) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:myotonia (delayed muscle relaxation after contraction)
n1=en:attacks may present during or after sleep | n2=en:myotonia (delayed muscle relaxation after contraction) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:myotonia (usually occurs during rapid voluntary muscle movements after a period of rest)
n1=en:attacks may present during or after sleep | n2=en:myotonia (usually occurs during rapid voluntary muscle movements after a period of rest) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:myotonia improves with continued activity ('warm-up phenomenon')
n1=en:attacks may present during or after sleep | n2=en:myotonia improves with continued activity ('warm-up phenomenon') | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:myotonia is most pronounced in the extremities
n1=en:attacks may present during or after sleep | n2=en:myotonia is most pronounced in the extremities | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:myotonia is present in majority of cases
n1=en:attacks may present during or after sleep | n2=en:myotonia is present in majority of cases | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:myotonia is usually not seen
n1=en:attacks may present during or after sleep | n2=en:myotonia is usually not seen | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:myotonia, cold-sensitive, predominantly of face, tongue, forearm, and hand precipitated by muscle cooling or cold exposure or rest after exercise
n1=en:attacks may present during or after sleep | n2=en:myotonia, cold-sensitive, predominantly of face, tongue, forearm, and hand precipitated by muscle cooling or cold exposure or rest after exercise | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:myotonia, potassium-sensitive (may be responsive to acetazolamide)
n1=en:attacks may present during or after sleep | n2=en:myotonia, potassium-sensitive (may be responsive to acetazolamide) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:myotonic discharges
n1=en:attacks may present during or after sleep | n2=en:myotonic discharges | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:myxedematous appearance
n1=en:attacks may present during or after sleep | n2=en:myxedematous appearance | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:nearly complete absence of mechanical adipose tissue (joints, orbits, palms, soles)
n1=en:attacks may present during or after sleep | n2=en:nearly complete absence of mechanical adipose tissue (joints, orbits, palms, soles) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:nearly complete absence of metabolically active adipose tissue (subcutaneous, intraabdominal, intrathoracic)
n1=en:attacks may present during or after sleep | n2=en:nearly complete absence of metabolically active adipose tissue (subcutaneous, intraabdominal, intrathoracic) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:neck and proximal limb muscle myopathy
n1=en:attacks may present during or after sleep | n2=en:neck and proximal limb muscle myopathy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:neck flexor weakness
n1=en:attacks may present during or after sleep | n2=en:neck flexor weakness | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:neck muscle weakness
n1=en:attacks may present during or after sleep | n2=en:neck muscle weakness | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:necrosis and degeneration seen on muscle biopsy
n1=en:attacks may present during or after sleep | n2=en:necrosis and degeneration seen on muscle biopsy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:necrotic and atrophic fibers with centralized nuclei
n1=en:attacks may present during or after sleep | n2=en:necrotic and atrophic fibers with centralized nuclei | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:necrotic and atrophic fibers with centralized nuclei seen on muscle biopsy
n1=en:attacks may present during or after sleep | n2=en:necrotic and atrophic fibers with centralized nuclei seen on muscle biopsy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:necrotic and regenerating muscle fibers
n1=en:attacks may present during or after sleep | n2=en:necrotic and regenerating muscle fibers | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:necrotic change
n1=en:attacks may present during or after sleep | n2=en:necrotic change | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:necrotic fibers
n1=en:attacks may present during or after sleep | n2=en:necrotic fibers | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:nemaline bodies
n1=en:attacks may present during or after sleep | n2=en:nemaline bodies | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:nemaline bodies are rarely intranuclear
n1=en:attacks may present during or after sleep | n2=en:nemaline bodies are rarely intranuclear | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:nemaline bodies are usually subsarcolemmal or sarcoplasmic
n1=en:attacks may present during or after sleep | n2=en:nemaline bodies are usually subsarcolemmal or sarcoplasmic | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:nemaline bodies occur in type 1 fibers
n1=en:attacks may present during or after sleep | n2=en:nemaline bodies occur in type 1 fibers | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:nemaline myopathy (in 1 reported male)
n1=en:attacks may present during or after sleep | n2=en:nemaline myopathy (in 1 reported male) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:nemaline rod formation
n1=en:attacks may present during or after sleep | n2=en:nemaline rod formation | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:nemaline rods (rare)
n1=en:attacks may present during or after sleep | n2=en:nemaline rods (rare) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:neonatal death
n1=en:attacks may present during or after sleep | n2=en:neonatal death | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:neonatal edema (in some patients)
n1=en:attacks may present during or after sleep | n2=en:neonatal edema (in some patients) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:neonatal hypertonias
n1=en:attacks may present during or after sleep | n2=en:neonatal hypertonias | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:neonatal sepsis
n1=en:attacks may present during or after sleep | n2=en:neonatal sepsis | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:neurogenic atrophy
n1=en:attacks may present during or after sleep | n2=en:neurogenic atrophy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:neurogenic atrophy of muscle fibers seen on biopsy (in some patients)
n1=en:attacks may present during or after sleep | n2=en:neurogenic atrophy of muscle fibers seen on biopsy (in some patients) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:neurogenic atrophy seen on muscle biopsy
n1=en:attacks may present during or after sleep | n2=en:neurogenic atrophy seen on muscle biopsy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:neurogenic changes
n1=en:attacks may present during or after sleep | n2=en:neurogenic changes | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:neuropathic process seen on muscle biopsy
n1=en:attacks may present during or after sleep | n2=en:neuropathic process seen on muscle biopsy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:nine patients have been reported (last curated july 2015)
n1=en:attacks may present during or after sleep | n2=en:nine patients have been reported (last curated july 2015) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:no consistent dysmorphic facial phenotype
n1=en:attacks may present during or after sleep | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:no dystrophic changes
n1=en:attacks may present during or after sleep | n2=en:no dystrophic changes | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:no extraocular findings
n1=en:attacks may present during or after sleep | n2=en:no extraocular findings | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:no facial muscle involvement
n1=en:attacks may present during or after sleep | n2=en:no facial muscle involvement | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:no lipodystrophy in face and neck
n1=en:attacks may present during or after sleep | n2=en:no lipodystrophy in face and neck | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:no muscle fiber necrosis
n1=en:attacks may present during or after sleep | n2=en:no muscle fiber necrosis | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:no muscle weakness
n1=en:attacks may present during or after sleep | n2=en:no muscle weakness | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:no myofibrillar abnormalities or protein aggregation
n1=en:attacks may present during or after sleep | n2=en:no myofibrillar abnormalities or protein aggregation | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:no ragged-red fibers
n1=en:attacks may present during or after sleep | n2=en:no ragged-red fibers | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:no rods
n1=en:attacks may present during or after sleep | n2=en:no rods | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:no situs inversus
n1=en:attacks may present during or after sleep | n2=en:no situs inversus | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:no staining for oxidative enzymes
n1=en:attacks may present during or after sleep | n2=en:no staining for oxidative enzymes | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:non-pitting edema
n1=en:attacks may present during or after sleep | n2=en:non-pitting edema | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:noninflammatory myopathy with rimmed vacuoles and atrophic fibers seen on muscle biopsy
n1=en:attacks may present during or after sleep | n2=en:noninflammatory myopathy with rimmed vacuoles and atrophic fibers seen on muscle biopsy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:nonspecific muscle fiber atrophy
n1=en:attacks may present during or after sleep | n2=en:nonspecific muscle fiber atrophy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:nonspecific myopathic changes
n1=en:attacks may present during or after sleep | n2=en:nonspecific myopathic changes | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:nonspecific myopathic changes seen on biopsy
n1=en:attacks may present during or after sleep | n2=en:nonspecific myopathic changes seen on biopsy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:nonspecific myopathic changes without dystrophic or inflammatory changes seen on muscle biopsy
n1=en:attacks may present during or after sleep | n2=en:nonspecific myopathic changes without dystrophic or inflammatory changes seen on muscle biopsy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:nonspecific myopathy
n1=en:attacks may present during or after sleep | n2=en:nonspecific myopathy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:nonspecific myopathy seen on biopsy
n1=en:attacks may present during or after sleep | n2=en:nonspecific myopathy seen on biopsy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:normal dystrophin immunostaining
n1=en:attacks may present during or after sleep | n2=en:normal dystrophin immunostaining | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:normal mitochondrial morphology (1 patient)
n1=en:attacks may present during or after sleep | n2=en:normal mitochondrial morphology (1 patient) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:normal neonatal period may occur before weakness is apparent
n1=en:attacks may present during or after sleep | n2=en:normal neonatal period may occur before weakness is apparent | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:normal or decreased facial and neck adipose tissue
n1=en:attacks may present during or after sleep | n2=en:normal or decreased facial and neck adipose tissue | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:normal or increased abdominal adipose tissue
n1=en:attacks may present during or after sleep | n2=en:normal or increased abdominal adipose tissue | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:normal or increased adipose tissue around the neck
n1=en:attacks may present during or after sleep | n2=en:normal or increased adipose tissue around the neck | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:normal or increased facial and neck adipose tissue
n1=en:attacks may present during or after sleep | n2=en:normal or increased facial and neck adipose tissue | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:normal or increased truncal adipose tissue
n1=en:attacks may present during or after sleep | n2=en:normal or increased truncal adipose tissue | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:normal phosphorylase kinase activity in muscle
n1=en:attacks may present during or after sleep | n2=en:normal phosphorylase kinase activity in muscle | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:nuclear clumps
n1=en:attacks may present during or after sleep | n2=en:nuclear clumps | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:numerous vacuole-like areas
n1=en:attacks may present during or after sleep | n2=en:numerous vacuole-like areas | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:occurs in a southern maryland tri-racial inbred population known as the brandywine isolate
n1=en:attacks may present during or after sleep | n2=en:occurs in a southern maryland tri-racial inbred population known as the brandywine isolate | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:oedema
n1=en:attacks may present during or after sleep | n2=en:oedema | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:ombilical hernia
n1=en:attacks may present during or after sleep | n2=en:ombilical hernia | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:omphalocele
n1=en:attacks may present during or after sleep | n2=en:omphalocele | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:one family and 2 unrelated patients have been reported (last curated december 2015)
n1=en:attacks may present during or after sleep | n2=en:one family and 2 unrelated patients have been reported (last curated december 2015) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:one lebanese family has been reported
n1=en:attacks may present during or after sleep | n2=en:one lebanese family has been reported | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:one patient has been reported (last curated august 2015)
n1=en:attacks may present during or after sleep | n2=en:one patient has been reported (last curated august 2015) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:one patient reported (last curated november 2012)
n1=en:attacks may present during or after sleep | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:onset in early infancy
n1=en:attacks may present during or after sleep | n2=en:onset in early infancy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:onset in first decade (as early as infancy in some)
n1=en:attacks may present during or after sleep | n2=en:onset in first decade (as early as infancy in some) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:onset in first decade after normal early development
n1=en:attacks may present during or after sleep | n2=en:onset in first decade after normal early development | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:onset of lymphedema around puberty
n1=en:attacks may present during or after sleep | n2=en:onset of lymphedema around puberty | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:onset of night blindness varies among patients from early childhood to mid thirties
n1=en:attacks may present during or after sleep | n2=en:onset of night blindness varies among patients from early childhood to mid thirties | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:onset of overgrowth in the first year of life (in most cases)
n1=en:attacks may present during or after sleep | n2=en:onset of overgrowth in the first year of life (in most cases) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:onset of symptoms in early childhood in most patients
n1=en:attacks may present during or after sleep | n2=en:onset of symptoms in early childhood in most patients | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:onset of visual dysfunction in early childhood
n1=en:attacks may present during or after sleep | n2=en:onset of visual dysfunction in early childhood | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:onset of weakness in hands and feet
n1=en:attacks may present during or after sleep | n2=en:onset of weakness in hands and feet | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:onset usually in childhood or adolescence
n1=en:attacks may present during or after sleep | n2=en:onset usually in childhood or adolescence | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:ophthalmoplegia
n1=en:attacks may present during or after sleep | n2=en:ophthalmoplegia | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:opportunistic infection
n1=en:attacks may present during or after sleep | n2=en:opportunistic infection | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:osteoglophonic, derived from greek meaning hollowed out
n1=en:attacks may present during or after sleep | n2=en:osteoglophonic, derived from greek meaning hollowed out | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:other mitochondrial complex enzyme activities may also be decreased
n1=en:attacks may present during or after sleep | n2=en:other mitochondrial complex enzyme activities may also be decreased | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:pain or cramping during sustained manual activity
n1=en:attacks may present during or after sleep | n2=en:pain or cramping during sustained manual activity | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:painful muscle cramps
n1=en:attacks may present during or after sleep | n2=en:painful muscle cramps | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:painful swelling in aponeuroses
n1=en:attacks may present during or after sleep | n2=en:painful swelling in aponeuroses | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:painful swelling in fasciae
n1=en:attacks may present during or after sleep | n2=en:painful swelling in fasciae | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:paracrystalline inclusions
n1=en:attacks may present during or after sleep | n2=en:paracrystalline inclusions | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:paradoxical myotonia (myotonia increases with exercise)
n1=en:attacks may present during or after sleep | n2=en:paradoxical myotonia (myotonia increases with exercise) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:paralysis of the lower limbs (later)
n1=en:attacks may present during or after sleep | n2=en:paralysis of the lower limbs (later) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:paralytic dementia
n1=en:attacks may present during or after sleep | n2=en:paralytic dementia | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:paresis
n1=en:attacks may present during or after sleep | n2=en:paresis | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:partial lipodystrophy (abnormal distribution of adipose tissue)
n1=en:attacks may present during or after sleep | n2=en:partial lipodystrophy (abnormal distribution of adipose tissue) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:partial lipodystrophy (abnormal distribution of subcutaneous adipose tissue)
n1=en:attacks may present during or after sleep | n2=en:partial lipodystrophy (abnormal distribution of subcutaneous adipose tissue) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:patchy muscle fiber degeneration
n1=en:attacks may present during or after sleep | n2=en:patchy muscle fiber degeneration | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:patient b is 1 child born of unrelated scandinavian parents with a more severe phenotype with onset in the neonatal period
n1=en:attacks may present during or after sleep | n2=en:patient b is 1 child born of unrelated scandinavian parents with a more severe phenotype with onset in the neonatal period | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:patient b presented with asymptomatic increased serum creatine kinase and no clinical muscle symptoms
n1=en:attacks may present during or after sleep | n2=en:patient b presented with asymptomatic increased serum creatine kinase and no clinical muscle symptoms | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:patients achieve independent ambulation, but may lose it
n1=en:attacks may present during or after sleep | n2=en:patients achieve independent ambulation, but may lose it | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:patients may die in infancy or childhood due to respiratory failure
n1=en:attacks may present during or after sleep | n2=en:patients may die in infancy or childhood due to respiratory failure | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:patients may have distal or proximal muscle weakness, or both
n1=en:attacks may present during or after sleep | n2=en:patients may have distal or proximal muscle weakness, or both | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:patients with homozygous, compound heterozygous, and heterozygous mutation have been reported
n1=en:attacks may present during or after sleep | n2=en:patients with homozygous, compound heterozygous, and heterozygous mutation have been reported | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:paucity or absence of lymph nodes in the axillae and above the inguinal ligaments seen on scintilymphangiography
n1=en:attacks may present during or after sleep | n2=en:paucity or absence of lymph nodes in the axillae and above the inguinal ligaments seen on scintilymphangiography | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:pectoralis hypoplasia
n1=en:attacks may present during or after sleep | n2=en:pectoralis hypoplasia | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:pectoralis major hypoplasia
n1=en:attacks may present during or after sleep | n2=en:pectoralis major hypoplasia | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:pectoralis muscles may be less involved, leading to inward shrugging posture
n1=en:attacks may present during or after sleep | n2=en:pectoralis muscles may be less involved, leading to inward shrugging posture | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:pelvic girdle muscle atrophy
n1=en:attacks may present during or after sleep | n2=en:pelvic girdle muscle atrophy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:pelvic girdle muscle weakness (occurs earlier)
n1=en:attacks may present during or after sleep | n2=en:pelvic girdle muscle weakness (occurs earlier) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:pelvic girdle weakness and atrophy
n1=en:attacks may present during or after sleep | n2=en:pelvic girdle weakness and atrophy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:pelvic muscle involvement occurs later
n1=en:attacks may present during or after sleep | n2=en:pelvic muscle involvement occurs later | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:penetrance estimated to be 80%
n1=en:attacks may present during or after sleep | n2=en:penetrance estimated to be 80% | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:percussion-induced muscle mounding (muscle rippling)
n1=en:attacks may present during or after sleep | n2=en:percussion-induced muscle mounding (muscle rippling) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:peroneal muscle atrophy
n1=en:attacks may present during or after sleep | n2=en:peroneal muscle atrophy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:peroneal muscle weakness
n1=en:attacks may present during or after sleep | n2=en:peroneal muscle weakness | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:peroneal muscle weakness and atrophy due to peripheral neuropathy
n1=en:attacks may present during or after sleep | n2=en:peroneal muscle weakness and atrophy due to peripheral neuropathy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:phagocytic vacuoles with degraded membranous material
n1=en:attacks may present during or after sleep | n2=en:phagocytic vacuoles with degraded membranous material | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:phenotype is due to hypomorphic nonmosaic mutation in the ebp gene
n1=en:attacks may present during or after sleep | n2=en:phenotype is due to hypomorphic nonmosaic mutation in the ebp gene | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:physical defect
n1=en:attacks may present during or after sleep | n2=en:physical defect | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:pigmentation not always butterfly-shaped
n1=en:attacks may present during or after sleep | n2=en:pigmentation not always butterfly-shaped | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:plantar fibromatosis
n1=en:attacks may present during or after sleep | n2=en:plantar fibromatosis | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:plaques immunoreactive for desmin and alpha-beta-crystallin
n1=en:attacks may present during or after sleep | n2=en:plaques immunoreactive for desmin and alpha-beta-crystallin | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:plasma membrane discontinuities
n1=en:attacks may present during or after sleep | n2=en:plasma membrane discontinuities | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:polyglucosan accumulation
n1=en:attacks may present during or after sleep | n2=en:polyglucosan accumulation | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:polyhydramnion
n1=en:attacks may present during or after sleep | n2=en:polyhydramnion | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:polyhydramnios
n1=en:attacks may present during or after sleep | n2=en:polyhydramnios | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:poor exercise tolerance
n1=en:attacks may present during or after sleep | n2=en:poor exercise tolerance | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:poor head control
n1=en:attacks may present during or after sleep | n2=en:poor head control | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:poor head control in infancy
n1=en:attacks may present during or after sleep | n2=en:poor head control in infancy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:poor muscle build
n1=en:attacks may present during or after sleep | n2=en:poor muscle build | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:poor muscle bulk
n1=en:attacks may present during or after sleep | n2=en:poor muscle bulk | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:poor muscle mass
n1=en:attacks may present during or after sleep | n2=en:poor muscle mass | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:poor musculature
n1=en:attacks may present during or after sleep | n2=en:poor musculature | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:poor sarcomeric structure (in some patients)
n1=en:attacks may present during or after sleep | n2=en:poor sarcomeric structure (in some patients) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:positive staining for slow myosin heavy chain
n1=en:attacks may present during or after sleep | n2=en:positive staining for slow myosin heavy chain | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:potassium sensitivity has been reported
n1=en:attacks may present during or after sleep | n2=en:potassium sensitivity has been reported | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:precipitation by pregnancy
n1=en:attacks may present during or after sleep | n2=en:precipitation by pregnancy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:predominance of oxidative fibers
n1=en:attacks may present during or after sleep | n2=en:predominance of oxidative fibers | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:premature exertional muscle weakness
n1=en:attacks may present during or after sleep | n2=en:premature exertional muscle weakness | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:presence of severe midfacial and limb defects and birth length less than 37cm associated with stillborn or early infant death
n1=en:attacks may present during or after sleep | n2=en:presence of severe midfacial and limb defects and birth length less than 37cm associated with stillborn or early infant death | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:preservation of visceral, neck, and axillary fat pads
n1=en:attacks may present during or after sleep | n2=en:preservation of visceral, neck, and axillary fat pads | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:preserved junctional folds
n1=en:attacks may present during or after sleep | n2=en:preserved junctional folds | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:preserved junctional structure seen on muscle biopsy
n1=en:attacks may present during or after sleep | n2=en:preserved junctional structure seen on muscle biopsy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:presynaptic defect at the neuromuscular junction
n1=en:attacks may present during or after sleep | n2=en:presynaptic defect at the neuromuscular junction | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:primarily affects lower limbs
n1=en:attacks may present during or after sleep | n2=en:primarily affects lower limbs | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:progression to proximal muscle weakness
n1=en:attacks may present during or after sleep | n2=en:progression to proximal muscle weakness | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:progression to wheelchair in fourth decade
n1=en:attacks may present during or after sleep | n2=en:progression to wheelchair in fourth decade | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:progressive distal and proximal symmetric limb weakness
n1=en:attacks may present during or after sleep | n2=en:progressive distal and proximal symmetric limb weakness | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:progressive distal muscle weakness
n1=en:attacks may present during or after sleep | n2=en:progressive distal muscle weakness | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:progressive ectopic ossification (neck, dorsal trunk, proximal limbs, sternocleidomastoid, masseters)
n1=en:attacks may present during or after sleep | n2=en:progressive ectopic ossification (neck, dorsal trunk, proximal limbs, sternocleidomastoid, masseters) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:progressive interictal weakness is common
n1=en:attacks may present during or after sleep | n2=en:progressive interictal weakness is common | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:progressive loss of facial adipose tissue
n1=en:attacks may present during or after sleep | n2=en:progressive loss of facial adipose tissue | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:progressive muscle weakness
n1=en:attacks may present during or after sleep | n2=en:progressive muscle weakness | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:progressive proximal muscle involvement
n1=en:attacks may present during or after sleep | n2=en:progressive proximal muscle involvement | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:progressive proximal muscle weakness
n1=en:attacks may present during or after sleep | n2=en:progressive proximal muscle weakness | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:proliferation of fatty tissue in muscle (in some patients)
n1=en:attacks may present during or after sleep | n2=en:proliferation of fatty tissue in muscle (in some patients) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:prolonged endplate potentials
n1=en:attacks may present during or after sleep | n2=en:prolonged endplate potentials | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:prominent involvement of the biceps brachii muscles
n1=en:attacks may present during or after sleep | n2=en:prominent involvement of the biceps brachii muscles | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:prominent involvement of the quadriceps femoris muscles
n1=en:attacks may present during or after sleep | n2=en:prominent involvement of the quadriceps femoris muscles | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:prominent muscular appearance
n1=en:attacks may present during or after sleep | n2=en:prominent muscular appearance | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:prominent musculature
n1=en:attacks may present during or after sleep | n2=en:prominent musculature | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:prominent veins, lower limbs
n1=en:attacks may present during or after sleep | n2=en:prominent veins, lower limbs | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:protein aggregates immunopositive for actin and desmin
n1=en:attacks may present during or after sleep | n2=en:protein aggregates immunopositive for actin and desmin | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:protein aggregates resembling myofibrillar myopathy may be present
n1=en:attacks may present during or after sleep | n2=en:protein aggregates resembling myofibrillar myopathy may be present | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:proximal and distal muscle atrophy
n1=en:attacks may present during or after sleep | n2=en:proximal and distal muscle atrophy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:proximal and distal muscle atrophy in lower limbs
n1=en:attacks may present during or after sleep | n2=en:proximal and distal muscle atrophy in lower limbs | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:proximal limb muscle weakness (occurs later)
n1=en:attacks may present during or after sleep | n2=en:proximal limb muscle weakness (occurs later) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:proximal limb muscle weakness initially
n1=en:attacks may present during or after sleep | n2=en:proximal limb muscle weakness initially | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:proximal lower limb amyotrophy
n1=en:attacks may present during or after sleep | n2=en:proximal lower limb amyotrophy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:proximal lower limb muscle weakness, later (in some patients)
n1=en:attacks may present during or after sleep | n2=en:proximal lower limb muscle weakness, later (in some patients) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:proximal lower limb muscle weakness, upper and lower (later onset)
n1=en:attacks may present during or after sleep | n2=en:proximal lower limb muscle weakness, upper and lower (later onset) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:proximal muscle atrophy (in some patients)
n1=en:attacks may present during or after sleep | n2=en:proximal muscle atrophy (in some patients) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:proximal muscle weakness (120270.0002)
n1=en:attacks may present during or after sleep | n2=en:proximal muscle weakness (120270.0002) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:proximal muscle weakness (85% of patients)
n1=en:attacks may present during or after sleep | n2=en:proximal muscle weakness (85% of patients) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:proximal muscle weakness (in some patients)
n1=en:attacks may present during or after sleep | n2=en:proximal muscle weakness (in some patients) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:proximal muscle weakness (occasional)
n1=en:attacks may present during or after sleep | n2=en:proximal muscle weakness (occasional) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:proximal muscle weakness and atrophy (may occur later)
n1=en:attacks may present during or after sleep | n2=en:proximal muscle weakness and atrophy (may occur later) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:proximal muscle weakness in upper limbs
n1=en:attacks may present during or after sleep | n2=en:proximal muscle weakness in upper limbs | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:proximal muscle weakness more severe than distal muscle weakness
n1=en:attacks may present during or after sleep | n2=en:proximal muscle weakness more severe than distal muscle weakness | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:proximal muscle weakness occurs later
n1=en:attacks may present during or after sleep | n2=en:proximal muscle weakness occurs later | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:proximal muscle weakness, less severe
n1=en:attacks may present during or after sleep | n2=en:proximal muscle weakness, less severe | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:proximal muscle weakness, limb-girdle distribution
n1=en:attacks may present during or after sleep | n2=en:proximal muscle weakness, limb-girdle distribution | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:proximal muscle weakness, lower limbs, mild
n1=en:attacks may present during or after sleep | n2=en:proximal muscle weakness, lower limbs, mild | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:proximal muscle weakness, mild
n1=en:attacks may present during or after sleep | n2=en:proximal muscle weakness, mild | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:proximal muscle weakness, mild (in some patients)
n1=en:attacks may present during or after sleep | n2=en:proximal muscle weakness, mild (in some patients) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:proximal muscle weakness, mild, of shoulder and hip girdle muscles (in some patients)
n1=en:attacks may present during or after sleep | n2=en:proximal muscle weakness, mild, of shoulder and hip girdle muscles (in some patients) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:proximal muscle weakness, upper and lower limbs, due to peripheral neuropathy, later in disease course
n1=en:attacks may present during or after sleep | n2=en:proximal muscle weakness, upper and lower limbs, due to peripheral neuropathy, later in disease course | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:proximal muscles may be mildly affected
n1=en:attacks may present during or after sleep | n2=en:proximal muscles may be mildly affected | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:proximal muscles more often affected
n1=en:attacks may present during or after sleep | n2=en:proximal muscles more often affected | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:proximal upper limb amyotrophy
n1=en:attacks may present during or after sleep | n2=en:proximal upper limb amyotrophy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:proximal weakness
n1=en:attacks may present during or after sleep | n2=en:proximal weakness | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:proximal weakness of the lower limbs with longer disease duration
n1=en:attacks may present during or after sleep | n2=en:proximal weakness of the lower limbs with longer disease duration | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:pseudoathletic appearance with prominent muscles before disease onset
n1=en:attacks may present during or after sleep | n2=en:pseudoathletic appearance with prominent muscles before disease onset | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:pyogenic arthritis, pyoderma gangrenosum and acne
n1=en:attacks may present during or after sleep | n2=en:pyogenic arthritis, pyoderma gangrenosum and acne | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:pyruvate oxidation defect
n1=en:attacks may present during or after sleep | n2=en:pyruvate oxidation defect | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:quadriceps aplasia
n1=en:attacks may present during or after sleep | n2=en:quadriceps aplasia | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:quadriceps atrophy
n1=en:attacks may present during or after sleep | n2=en:quadriceps atrophy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:quadriceps atrophy (later onset)
n1=en:attacks may present during or after sleep | n2=en:quadriceps atrophy (later onset) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:quadriceps muscle spared
n1=en:attacks may present during or after sleep | n2=en:quadriceps muscle spared | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:quinidine therapy may be effective
n1=en:attacks may present during or after sleep | n2=en:quinidine therapy may be effective | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:ragged red fibers (in some patients)
n1=en:attacks may present during or after sleep | n2=en:ragged red fibers (in some patients) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:ragged red fibers seen on biopsy
n1=en:attacks may present during or after sleep | n2=en:ragged red fibers seen on biopsy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:ragged red fibers seen on skeletal muscle biopsy
n1=en:attacks may present during or after sleep | n2=en:ragged red fibers seen on skeletal muscle biopsy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:ragged red fibers, mainly in type i fibers seen on skeletal muscle biopsy
n1=en:attacks may present during or after sleep | n2=en:ragged red fibers, mainly in type i fibers seen on skeletal muscle biopsy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:ragged-red fibers on muscle biopsy
n1=en:attacks may present during or after sleep | n2=en:ragged-red fibers on muscle biopsy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:ragged-red fibers seen on muscle biopsy
n1=en:attacks may present during or after sleep | n2=en:ragged-red fibers seen on muscle biopsy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:ragged-red muscle fibers
n1=en:attacks may present during or after sleep | n2=en:ragged-red muscle fibers | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:rare necrotic fibers
n1=en:attacks may present during or after sleep | n2=en:rare necrotic fibers | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:recovery between attacks
n1=en:attacks may present during or after sleep | n2=en:recovery between attacks | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:rectus abdominis muscle separation
n1=en:attacks may present during or after sleep | n2=en:rectus abdominis muscle separation | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:rectus fascia separation
n1=en:attacks may present during or after sleep | n2=en:rectus fascia separation | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:rectus medial atrophy
n1=en:attacks may present during or after sleep | n2=en:rectus medial atrophy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:recurrent episodes of liver failure during intercurrent infections
n1=en:attacks may present during or after sleep | n2=en:recurrent episodes of liver failure during intercurrent infections | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:red-ragged fibers (2p21del)
n1=en:attacks may present during or after sleep | n2=en:red-ragged fibers (2p21del) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:reduced activity of mitochondrial respiratory chains (1 family)
n1=en:attacks may present during or after sleep | n2=en:reduced activity of mitochondrial respiratory chains (1 family) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:reduced ankle dorsiflexion
n1=en:attacks may present during or after sleep | n2=en:reduced ankle dorsiflexion | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:reduced lower limb subcutaneous fat
n1=en:attacks may present during or after sleep | n2=en:reduced lower limb subcutaneous fat | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:reduced muscle bulk
n1=en:attacks may present during or after sleep | n2=en:reduced muscle bulk | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:reduced muscle mass
n1=en:attacks may present during or after sleep | n2=en:reduced muscle mass | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:reduced muscle tone
n1=en:attacks may present during or after sleep | n2=en:reduced muscle tone | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:reduced postsynaptic cleft area
n1=en:attacks may present during or after sleep | n2=en:reduced postsynaptic cleft area | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:reduced subcutaneous adipose tissue
n1=en:attacks may present during or after sleep | n2=en:reduced subcutaneous adipose tissue | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:redundancy of basal lamina with accumulated debris
n1=en:attacks may present during or after sleep | n2=en:redundancy of basal lamina with accumulated debris | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:relative muscle weakness, especially in pelvic girdle
n1=en:attacks may present during or after sleep | n2=en:relative muscle weakness, especially in pelvic girdle | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:relative sparing of the rectus femoris
n1=en:attacks may present during or after sleep | n2=en:relative sparing of the rectus femoris | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:relative sparing of the tibialis anterior
n1=en:attacks may present during or after sleep | n2=en:relative sparing of the tibialis anterior | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:relatively mild phenotype
n1=en:attacks may present during or after sleep | n2=en:relatively mild phenotype | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:repetitive action potentials in response to single nerve stimulation
n1=en:attacks may present during or after sleep | n2=en:repetitive action potentials in response to single nerve stimulation | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:repetitive compound muscle action potentials (cmap) in response to single stimulus
n1=en:attacks may present during or after sleep | n2=en:repetitive compound muscle action potentials (cmap) in response to single stimulus | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:repetitive response to single nerve stimulation
n1=en:attacks may present during or after sleep | n2=en:repetitive response to single nerve stimulation | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:repetitive response to single nerve stimulus
n1=en:attacks may present during or after sleep | n2=en:repetitive response to single nerve stimulus | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:replacement of affected muscle tissue with fatty tissue
n1=en:attacks may present during or after sleep | n2=en:replacement of affected muscle tissue with fatty tissue | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:replacement of myofibers with connective tissue
n1=en:attacks may present during or after sleep | n2=en:replacement of myofibers with connective tissue | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:respiratory distress (congenital form)
n1=en:attacks may present during or after sleep | n2=en:respiratory distress (congenital form) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:respiratory muscles may be involved (more common in juvenile-onset)
n1=en:attacks may present during or after sleep | n2=en:respiratory muscles may be involved (more common in juvenile-onset) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:retain some mechanical adipose tissue (joints, orbits, palms, soles)
n1=en:attacks may present during or after sleep | n2=en:retain some mechanical adipose tissue (joints, orbits, palms, soles) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:retinal holes were present in an asymptomatic female carrier
n1=en:attacks may present during or after sleep | n2=en:retinal holes were present in an asymptomatic female carrier | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:retinitis pigmentosa
n1=en:attacks may present during or after sleep | n2=en:retinitis pigmentosa | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:retroperitoneal fibrosis (rare)
n1=en:attacks may present during or after sleep | n2=en:retroperitoneal fibrosis (rare) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:rhabdomyolysis (in some patients)
n1=en:attacks may present during or after sleep | n2=en:rhabdomyolysis (in some patients) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:rhabdomyolysis may occur
n1=en:attacks may present during or after sleep | n2=en:rhabdomyolysis may occur | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:rhabdomyolysis with exercise (in older patients)
n1=en:attacks may present during or after sleep | n2=en:rhabdomyolysis with exercise (in older patients) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:rhabdomyolysis, episodic
n1=en:attacks may present during or after sleep | n2=en:rhabdomyolysis, episodic | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:rhabdomyolysis, episodic and recurrent
n1=en:attacks may present during or after sleep | n2=en:rhabdomyolysis, episodic and recurrent | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:rigidity (uncommon)
n1=en:attacks may present during or after sleep | n2=en:rigidity (uncommon) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:rimmed vacuoles
n1=en:attacks may present during or after sleep | n2=en:rimmed vacuoles | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:rimmed vacuoles on biopsy
n1=en:attacks may present during or after sleep | n2=en:rimmed vacuoles on biopsy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:rimmed vacuoles with basophilic granular material
n1=en:attacks may present during or after sleep | n2=en:rimmed vacuoles with basophilic granular material | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:ring fibers
n1=en:attacks may present during or after sleep | n2=en:ring fibers | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:rounded, atrophic fibers (family a)
n1=en:attacks may present during or after sleep | n2=en:rounded, atrophic fibers (family a) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:sarcomere disappearance seen on muscle biopsy
n1=en:attacks may present during or after sleep | n2=en:sarcomere disappearance seen on muscle biopsy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:sarcoplasmic accumulation of electron-dense granulofilamentous material
n1=en:attacks may present during or after sleep | n2=en:sarcoplasmic accumulation of electron-dense granulofilamentous material | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:sarcoplasmic inclusions
n1=en:attacks may present during or after sleep | n2=en:sarcoplasmic inclusions | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:scapular muscle atrophy
n1=en:attacks may present during or after sleep | n2=en:scapular muscle atrophy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:scapuloperoneal amyotrophy
n1=en:attacks may present during or after sleep | n2=en:scapuloperoneal amyotrophy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:scapuloperoneal muscular atrophy due to denervation
n1=en:attacks may present during or after sleep | n2=en:scapuloperoneal muscular atrophy due to denervation | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:scapuloperoneal weakness
n1=en:attacks may present during or after sleep | n2=en:scapuloperoneal weakness | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:scattered necrotic fibers
n1=en:attacks may present during or after sleep | n2=en:scattered necrotic fibers | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:secondarily decreased activities of mitochondrial respiratory enzymes (in some patients)
n1=en:attacks may present during or after sleep | n2=en:secondarily decreased activities of mitochondrial respiratory enzymes (in some patients) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:secondary hypertrophy
n1=en:attacks may present during or after sleep | n2=en:secondary hypertrophy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:secondary loss of merosin and desmin
n1=en:attacks may present during or after sleep | n2=en:secondary loss of merosin and desmin | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:secondary loss of sarcolemmal caveolin-3
n1=en:attacks may present during or after sleep | n2=en:secondary loss of sarcolemmal caveolin-3 | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:secondary myopathic changes
n1=en:attacks may present during or after sleep | n2=en:secondary myopathic changes | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:secondary myopathic features
n1=en:attacks may present during or after sleep | n2=en:secondary myopathic features | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:seizures remit spontaneously by age 5 years
n1=en:attacks may present during or after sleep | n2=en:seizures remit spontaneously by age 5 years | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:severe disability within 20 years of onset
n1=en:attacks may present during or after sleep | n2=en:severe disability within 20 years of onset | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:severe form shows absence of spontaneous activity at birth
n1=en:attacks may present during or after sleep | n2=en:severe form shows absence of spontaneous activity at birth | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:severe muscle hypotonia at birth
n1=en:attacks may present during or after sleep | n2=en:severe muscle hypotonia at birth | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:severe muscle wasting and atrophy, primarily in the legs
n1=en:attacks may present during or after sleep | n2=en:severe muscle wasting and atrophy, primarily in the legs | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:severe muscular hypotonia
n1=en:attacks may present during or after sleep | n2=en:severe muscular hypotonia | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:sexual infantilism
n1=en:attacks may present during or after sleep | n2=en:sexual infantilism | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:short umbilical cord
n1=en:attacks may present during or after sleep | n2=en:short umbilical cord | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:shortened open channel duration
n1=en:attacks may present during or after sleep | n2=en:shortened open channel duration | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:shortening of flexor profundus muscle-tendon unit
n1=en:attacks may present during or after sleep | n2=en:shortening of flexor profundus muscle-tendon unit | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:shortening of various muscle-tendon groups in feet
n1=en:attacks may present during or after sleep | n2=en:shortening of various muscle-tendon groups in feet | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:shoulder girdle muscle atrophy
n1=en:attacks may present during or after sleep | n2=en:shoulder girdle muscle atrophy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:shoulder girdle muscle weakness and atrophy, progressive
n1=en:attacks may present during or after sleep | n2=en:shoulder girdle muscle weakness and atrophy, progressive | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:shoulder muscle hypoplasia
n1=en:attacks may present during or after sleep | n2=en:shoulder muscle hypoplasia | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:shoulder weakness
n1=en:attacks may present during or after sleep | n2=en:shoulder weakness | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:shoulder weakness and atrophy
n1=en:attacks may present during or after sleep | n2=en:shoulder weakness and atrophy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:signs of denervation seen on biopsy
n1=en:attacks may present during or after sleep | n2=en:signs of denervation seen on biopsy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:single umbilical artery
n1=en:attacks may present during or after sleep | n2=en:single umbilical artery | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:skeletal muscle biopsy shows dystrophic changes
n1=en:attacks may present during or after sleep | n2=en:skeletal muscle biopsy shows dystrophic changes | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:skeletal muscle biopsy shows hypertrophy of type 1 and 2 muscle fibers
n1=en:attacks may present during or after sleep | n2=en:skeletal muscle biopsy shows hypertrophy of type 1 and 2 muscle fibers | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:skeletal muscle biopsy shows impaired respiratory oxidation
n1=en:attacks may present during or after sleep | n2=en:skeletal muscle biopsy shows impaired respiratory oxidation | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:skeletal muscle biopsy shows minor variation in fiber size
n1=en:attacks may present during or after sleep | n2=en:skeletal muscle biopsy shows minor variation in fiber size | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:skeletal muscle damage
n1=en:attacks may present during or after sleep | n2=en:skeletal muscle damage | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:skeletal muscle shows decreased sarcoglycan proteins
n1=en:attacks may present during or after sleep | n2=en:skeletal muscle shows decreased sarcoglycan proteins | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:skeletal muscle shows dystrophic changes
n1=en:attacks may present during or after sleep | n2=en:skeletal muscle shows dystrophic changes | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:skeletal muscle weakness
n1=en:attacks may present during or after sleep | n2=en:skeletal muscle weakness | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:skewed x-inactivation, with complete skewing in some individuals
n1=en:attacks may present during or after sleep | n2=en:skewed x-inactivation, with complete skewing in some individuals | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:slim, muscular build (in some patients)
n1=en:attacks may present during or after sleep | n2=en:slim, muscular build (in some patients) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:slow motor responses to sudden events (i.e., falling)
n1=en:attacks may present during or after sleep | n2=en:slow motor responses to sudden events (i.e., falling) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:slowly progressive limb-girdle myopathy
n1=en:attacks may present during or after sleep | n2=en:slowly progressive limb-girdle myopathy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:slowly-progressive muscle wasting and weakness with humeroperoneal and scapuloperoneal distribution
n1=en:attacks may present during or after sleep | n2=en:slowly-progressive muscle wasting and weakness with humeroperoneal and scapuloperoneal distribution | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:small and incompletely fused muscle fibers seen on biopsy
n1=en:attacks may present during or after sleep | n2=en:small and incompletely fused muscle fibers seen on biopsy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:small endplate
n1=en:attacks may present during or after sleep | n2=en:small endplate | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:small nerve terminals
n1=en:attacks may present during or after sleep | n2=en:small nerve terminals | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:small or absent axon terminals
n1=en:attacks may present during or after sleep | n2=en:small or absent axon terminals | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:small rounded fibers
n1=en:attacks may present during or after sleep | n2=en:small rounded fibers | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:small, angulated muscle fibers seen on muscle biopsy
n1=en:attacks may present during or after sleep | n2=en:small, angulated muscle fibers seen on muscle biopsy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:small, firm, rubbery, flesh-colored nodules most commonly found on the head, neck, and trunk
n1=en:attacks may present during or after sleep | n2=en:small, firm, rubbery, flesh-colored nodules most commonly found on the head, neck, and trunk | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:smooth muscle may also become involved
n1=en:attacks may present during or after sleep | n2=en:smooth muscle may also become involved | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:soft fleshy palms (50%)
n1=en:attacks may present during or after sleep | n2=en:soft fleshy palms (50%) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:soft tissue or tendinous calcinosis may occur
n1=en:attacks may present during or after sleep | n2=en:soft tissue or tendinous calcinosis may occur | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:soft tissue vascular malformations
n1=en:attacks may present during or after sleep | n2=en:soft tissue vascular malformations | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:some patients become wheelchair-dependent
n1=en:attacks may present during or after sleep | n2=en:some patients become wheelchair-dependent | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:some patients have onset in second decade of life
n1=en:attacks may present during or after sleep | n2=en:some patients have onset in second decade of life | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:some patients may show normal early development before seizure onset
n1=en:attacks may present during or after sleep | n2=en:some patients may show normal early development before seizure onset | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:some patients never achieve ambulation
n1=en:attacks may present during or after sleep | n2=en:some patients never achieve ambulation | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:some subcutaneous adipose tissue may remain on upper arms
n1=en:attacks may present during or after sleep | n2=en:some subcutaneous adipose tissue may remain on upper arms | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:sparing of anterior tibialis muscle
n1=en:attacks may present during or after sleep | n2=en:sparing of anterior tibialis muscle | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:sparing of small hand and finger muscles
n1=en:attacks may present during or after sleep | n2=en:sparing of small hand and finger muscles | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:sparing of the anterior tibial compartment
n1=en:attacks may present during or after sleep | n2=en:sparing of the anterior tibial compartment | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:sparing of the brachioradialis muscle (gives appearance of 'oblique amyotrophy')
n1=en:attacks may present during or after sleep | n2=en:sparing of the brachioradialis muscle (gives appearance of 'oblique amyotrophy') | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:spheroid bodies are composed of fine filamentous (myofibrillar) material
n1=en:attacks may present during or after sleep | n2=en:spheroid bodies are composed of fine filamentous (myofibrillar) material | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:stiffness (uncommon)
n1=en:attacks may present during or after sleep | n2=en:stiffness (uncommon) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:Stokes-Adams syndrome
n1=en:attacks may present during or after sleep | n2=en:Stokes-Adams syndrome | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:stokes-adams syndrome
n1=en:attacks may present during or after sleep | n2=en:stokes-adams syndrome | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:structurally abnormal mitochondria
n1=en:attacks may present during or after sleep | n2=en:structurally abnormal mitochondria | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:subcutaneous edema
n1=en:attacks may present during or after sleep | n2=en:subcutaneous edema | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:subcutaneous fat markedly reduced
n1=en:attacks may present during or after sleep | n2=en:subcutaneous fat markedly reduced | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:subsarcolemmal accumulation of enlarged mitochondria with variably sized rectangular or elongated rhomboidal paracrystalline inclusions
n1=en:attacks may present during or after sleep | n2=en:subsarcolemmal accumulation of enlarged mitochondria with variably sized rectangular or elongated rhomboidal paracrystalline inclusions | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:subsarcolemmal accumulation of normal mitochondria (in some patients)
n1=en:attacks may present during or after sleep | n2=en:subsarcolemmal accumulation of normal mitochondria (in some patients) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:subsarcolemmal accumulations of abnormally shaped mitochondria (on electron microscopy)
n1=en:attacks may present during or after sleep | n2=en:subsarcolemmal accumulations of abnormally shaped mitochondria (on electron microscopy) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:subsarcolemmal accumulations of abnormally shaped mitochondria seen on electron microscopy
n1=en:attacks may present during or after sleep | n2=en:subsarcolemmal accumulations of abnormally shaped mitochondria seen on electron microscopy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:subsarcolemmal accumulations of abnormally shaped mitochondria seen with electronmicroscopy
n1=en:attacks may present during or after sleep | n2=en:subsarcolemmal accumulations of abnormally shaped mitochondria seen with electronmicroscopy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:subsarcolemmal aggregates of abnormal mitochondria with concentric lamellar membranes
n1=en:attacks may present during or after sleep | n2=en:subsarcolemmal aggregates of abnormal mitochondria with concentric lamellar membranes | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:subsarcolemmal hyaline bodies in type 1 fibers only
n1=en:attacks may present during or after sleep | n2=en:subsarcolemmal hyaline bodies in type 1 fibers only | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:subsarcolemmal lipofuscin-positive deposits
n1=en:attacks may present during or after sleep | n2=en:subsarcolemmal lipofuscin-positive deposits | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:subsarcolemmal mitochondrial accumulation
n1=en:attacks may present during or after sleep | n2=en:subsarcolemmal mitochondrial accumulation | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:subsarcolemmal mitochondrial aggregates
n1=en:attacks may present during or after sleep | n2=en:subsarcolemmal mitochondrial aggregates | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:superficial rerouting of lymph through the skin
n1=en:attacks may present during or after sleep | n2=en:superficial rerouting of lymph through the skin | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:superior rectus atrophy
n1=en:attacks may present during or after sleep | n2=en:superior rectus atrophy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:surviving males are postzygotic mosaic for ebp mutations
n1=en:attacks may present during or after sleep | n2=en:surviving males are postzygotic mosaic for ebp mutations | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:swelling of the affected areas
n1=en:attacks may present during or after sleep | n2=en:swelling of the affected areas | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:swelling of the extremities, episodic
n1=en:attacks may present during or after sleep | n2=en:swelling of the extremities, episodic | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:swelling of the hands and feet (in 1 patient)
n1=en:attacks may present during or after sleep | n2=en:swelling of the hands and feet (in 1 patient) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:swelling of the hands and feet, episodic
n1=en:attacks may present during or after sleep | n2=en:swelling of the hands and feet, episodic | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:symmetrical muscle wasting
n1=en:attacks may present during or after sleep | n2=en:symmetrical muscle wasting | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:symmetrical, proximal limb muscle atrophy (pelvic, scapular, trunk muscles)
n1=en:attacks may present during or after sleep | n2=en:symmetrical, proximal limb muscle atrophy (pelvic, scapular, trunk muscles) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:symptoms are progressive for a few years, and then become stationary
n1=en:attacks may present during or after sleep | n2=en:symptoms are progressive for a few years, and then become stationary | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:symptoms may be induced by heat
n1=en:attacks may present during or after sleep | n2=en:symptoms may be induced by heat | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:symptoms present from infancy or early childhood
n1=en:attacks may present during or after sleep | n2=en:symptoms present from infancy or early childhood | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:syphilitic meningoencephalitis
n1=en:attacks may present during or after sleep | n2=en:syphilitic meningoencephalitis | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:tenderness of lower extremities
n1=en:attacks may present during or after sleep | n2=en:tenderness of lower extremities | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:tendinous and tuberous xanthoma
n1=en:attacks may present during or after sleep | n2=en:tendinous and tuberous xanthoma | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:tendon tears
n1=en:attacks may present during or after sleep | n2=en:tendon tears | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:teratosis
n1=en:attacks may present during or after sleep | n2=en:teratosis | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:tetanus-like muscle contractions
n1=en:attacks may present during or after sleep | n2=en:tetanus-like muscle contractions | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:thenar amyotrophy (rare)
n1=en:attacks may present during or after sleep | n2=en:thenar amyotrophy (rare) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:thenar eminence hypoplasia
n1=en:attacks may present during or after sleep | n2=en:thenar eminence hypoplasia | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:therapy is placement of implantable cardioverter defibrillator (icd)
n1=en:attacks may present during or after sleep | n2=en:therapy is placement of implantable cardioverter defibrillator (icd) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:thick palmar fascia
n1=en:attacks may present during or after sleep | n2=en:thick palmar fascia | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:thickened subcutaneous tissue
n1=en:attacks may present during or after sleep | n2=en:thickened subcutaneous tissue | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:thickening of fascia of forearm
n1=en:attacks may present during or after sleep | n2=en:thickening of fascia of forearm | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:thickening of the fascial structures of the palm and fingers
n1=en:attacks may present during or after sleep | n2=en:thickening of the fascial structures of the palm and fingers | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:thin filament shortening and disorganization (in some patients)
n1=en:attacks may present during or after sleep | n2=en:thin filament shortening and disorganization (in some patients) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:three fetuses from 1 family have been reported (last curated august 2015)
n1=en:attacks may present during or after sleep | n2=en:three fetuses from 1 family have been reported (last curated august 2015) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:three unrelated consanguineous families (libyan, egyptian, and pakistani origin) have been reported (last curated july 2015)
n1=en:attacks may present during or after sleep | n2=en:three unrelated consanguineous families (libyan, egyptian, and pakistani origin) have been reported (last curated july 2015) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:three unrelated families have been reported (last curated october 2015)
n1=en:attacks may present during or after sleep | n2=en:three unrelated families have been reported (last curated october 2015) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:three unrelated patients have been reported (last curated december 2015)
n1=en:attacks may present during or after sleep | n2=en:three unrelated patients have been reported (last curated december 2015) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:three unrelated patients have been reported (last curated july 2015)
n1=en:attacks may present during or after sleep | n2=en:three unrelated patients have been reported (last curated july 2015) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:thyrotoxic periodic paralysis, susceptibility to, 1
n1=en:attacks may present during or after sleep | n2=en:thyrotoxic periodic paralysis, susceptibility to, 1 | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:toe and foot dorsiflexor weakness
n1=en:attacks may present during or after sleep | n2=en:toe and foot dorsiflexor weakness | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:toe-walking gait
n1=en:attacks may present during or after sleep | n2=en:toe-walking gait | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:tortuous lymphatic tracts
n1=en:attacks may present during or after sleep | n2=en:tortuous lymphatic tracts | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:transient eosinophilic myositis (seen on muscle biopsy) in the first decade
n1=en:attacks may present during or after sleep | n2=en:transient eosinophilic myositis (seen on muscle biopsy) in the first decade | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:transient muscle weakness occur in 75% of patients, particularly in the arms and hands
n1=en:attacks may present during or after sleep | n2=en:transient muscle weakness occur in 75% of patients, particularly in the arms and hands | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:transient neonatal hypotonia (less common)
n1=en:attacks may present during or after sleep | n2=en:transient neonatal hypotonia (less common) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:treatment with sulfonylurea can be effective
n1=en:attacks may present during or after sleep | n2=en:treatment with sulfonylurea can be effective | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:tremor at birth, involving most skeletal muscle groups, especially jaw muscles and lower limb muscles
n1=en:attacks may present during or after sleep | n2=en:tremor at birth, involving most skeletal muscle groups, especially jaw muscles and lower limb muscles | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:tremor of the upper limb
n1=en:attacks may present during or after sleep | n2=en:tremor of the upper limb | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:tremors subside over the first 2 to 3 months of life
n1=en:attacks may present during or after sleep | n2=en:tremors subside over the first 2 to 3 months of life | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:triceps aplasia
n1=en:attacks may present during or after sleep | n2=en:triceps aplasia | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:triceps weakness
n1=en:attacks may present during or after sleep | n2=en:triceps weakness | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:tubular aggregates (in some patients)
n1=en:attacks may present during or after sleep | n2=en:tubular aggregates (in some patients) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:tubular aggregates in muscle fibers may occur
n1=en:attacks may present during or after sleep | n2=en:tubular aggregates in muscle fibers may occur | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:tubular aggregates in type 2 skeletal muscle fibers
n1=en:attacks may present during or after sleep | n2=en:tubular aggregates in type 2 skeletal muscle fibers | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:tubular aggregates mainly in type 1 fibers
n1=en:attacks may present during or after sleep | n2=en:tubular aggregates mainly in type 1 fibers | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:tubular aggregates seen on biopsy
n1=en:attacks may present during or after sleep | n2=en:tubular aggregates seen on biopsy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:tubular aggregates seen on muscle biopsy
n1=en:attacks may present during or after sleep | n2=en:tubular aggregates seen on muscle biopsy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:tubulofilamentous inclusions
n1=en:attacks may present during or after sleep | n2=en:tubulofilamentous inclusions | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:tubulofilamentous nuclear or cytoplasmic inclusions on biopsy
n1=en:attacks may present during or after sleep | n2=en:tubulofilamentous nuclear or cytoplasmic inclusions on biopsy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:tumor suppressor gene
n1=en:attacks may present during or after sleep | n2=en:tumor suppressor gene | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:twenty-five percent of affected babies are stillborn
n1=en:attacks may present during or after sleep | n2=en:twenty-five percent of affected babies are stillborn | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:twitching
n1=en:attacks may present during or after sleep | n2=en:twitching | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:two families with confirmed adra2b mutations have been reported (last curated june 2015)
n1=en:attacks may present during or after sleep | n2=en:two families with confirmed adra2b mutations have been reported (last curated june 2015) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:two sibs each from unrelated saudi arabian families reported (last curated may 2014)
n1=en:attacks may present during or after sleep | n2=en:two sibs each from unrelated saudi arabian families reported (last curated may 2014) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:two sibs from a consanguineous syrian family have been reported (last curated july 2015)
n1=en:attacks may present during or after sleep | n2=en:two sibs from a consanguineous syrian family have been reported (last curated july 2015) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:two sibs have been reported (last curated november 2015)
n1=en:attacks may present during or after sleep | n2=en:two sibs have been reported (last curated november 2015) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:two sisters born of consanguineous palestinian parents have been reported (last curated september 2015)
n1=en:attacks may present during or after sleep | n2=en:two sisters born of consanguineous palestinian parents have been reported (last curated september 2015) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:two unrelated consanguineous families have been reported (last curated july 2015)
n1=en:attacks may present during or after sleep | n2=en:two unrelated consanguineous families have been reported (last curated july 2015) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:two unrelated families have been reported (last curated february 2016)
n1=en:attacks may present during or after sleep | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:two unrelated families have been reported (last curated june 2015)
n1=en:attacks may present during or after sleep | n2=en:two unrelated families have been reported (last curated june 2015) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:two unrelated families have been reported (last curated october 2015)
n1=en:attacks may present during or after sleep | n2=en:two unrelated families have been reported (last curated october 2015) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:two unrelated patients have been reported (last curated august 2015)
n1=en:attacks may present during or after sleep | n2=en:two unrelated patients have been reported (last curated august 2015) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:type 1 and type 2 muscle fibers with 'minicore' regions of sarcomeric disorganization, lack of oxidative activity, and absent mitochondria
n1=en:attacks may present during or after sleep | n2=en:type 1 and type 2 muscle fibers with 'minicore' regions of sarcomeric disorganization, lack of oxidative activity, and absent mitochondria | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:type 1 fiber atrophy
n1=en:attacks may present during or after sleep | n2=en:type 1 fiber atrophy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:type 1 fiber atrophy seen on muscle biopsy
n1=en:attacks may present during or after sleep | n2=en:type 1 fiber atrophy seen on muscle biopsy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:type 1 fiber predominance
n1=en:attacks may present during or after sleep | n2=en:type 1 fiber predominance | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:type 1 fiber predominance seen on muscle biopsy
n1=en:attacks may present during or after sleep | n2=en:type 1 fiber predominance seen on muscle biopsy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:type 1 fibers are at least 12% smaller than type 2 fibers
n1=en:attacks may present during or after sleep | n2=en:type 1 fibers are at least 12% smaller than type 2 fibers | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:type 1 muscle fiber predominance
n1=en:attacks may present during or after sleep | n2=en:type 1 muscle fiber predominance | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:type 1 muscle fibers with clearly demarcated central 'core' regions of sarcomeric disorganization, lack of oxidative activity, and absent mitochondria
n1=en:attacks may present during or after sleep | n2=en:type 1 muscle fibers with clearly demarcated central 'core' regions of sarcomeric disorganization, lack of oxidative activity, and absent mitochondria | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:type 2 fiber atrophy see on biopsy
n1=en:attacks may present during or after sleep | n2=en:type 2 fiber atrophy see on biopsy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:type 2 fiber predominance
n1=en:attacks may present during or after sleep | n2=en:type 2 fiber predominance | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:type 2 muscle fiber atrophy
n1=en:attacks may present during or after sleep | n2=en:type 2 muscle fiber atrophy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:type 2 muscle fiber predominance
n1=en:attacks may present during or after sleep | n2=en:type 2 muscle fiber predominance | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:ubiquinone decreased
n1=en:attacks may present during or after sleep | n2=en:ubiquinone decreased | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:umbilical hernia
n1=en:attacks may present during or after sleep | n2=en:umbilical hernia | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:Umbilical hernia
n1=en:attacks may present during or after sleep | n2=en:Umbilical hernia | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:umbilical hiatus
n1=en:attacks may present during or after sleep | n2=en:umbilical hiatus | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:unable to walk
n1=en:attacks may present during or after sleep | n2=en:unable to walk | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:upper and/or lower limbs may be affected
n1=en:attacks may present during or after sleep | n2=en:upper and/or lower limbs may be affected | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:upper arm and pelvic muscle weakness and atrophy (later onset)
n1=en:attacks may present during or after sleep | n2=en:upper arm and pelvic muscle weakness and atrophy (later onset) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:upper limb involvement and distal muscle involvement may occur later in disease course (often by second decade)
n1=en:attacks may present during or after sleep | n2=en:upper limb involvement and distal muscle involvement may occur later in disease course (often by second decade) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:upper limb involvement occurs later or not at all
n1=en:attacks may present during or after sleep | n2=en:upper limb involvement occurs later or not at all | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:upper limb muscle hypoplasia
n1=en:attacks may present during or after sleep | n2=en:upper limb muscle hypoplasia | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:upper limb muscle weakness may be more severe than lower limb weakness
n1=en:attacks may present during or after sleep | n2=en:upper limb muscle weakness may be more severe than lower limb weakness | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:upper limb weakness
n1=en:attacks may present during or after sleep | n2=en:upper limb weakness | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:usually a unilateral disorder
n1=en:attacks may present during or after sleep | n2=en:usually a unilateral disorder | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:usually no myopathic changes on biopsy
n1=en:attacks may present during or after sleep | n2=en:usually no myopathic changes on biopsy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:uterine muscle may be stiff during pregnancy
n1=en:attacks may present during or after sleep | n2=en:uterine muscle may be stiff during pregnancy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:vacuolar degeneration
n1=en:attacks may present during or after sleep | n2=en:vacuolar degeneration | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:vacuolar membranes immunostain with sarcolemmal proteins
n1=en:attacks may present during or after sleep | n2=en:vacuolar membranes immunostain with sarcolemmal proteins | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:vacuolar myopathy
n1=en:attacks may present during or after sleep | n2=en:vacuolar myopathy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:vacuolar myopathy may occur
n1=en:attacks may present during or after sleep | n2=en:vacuolar myopathy may occur | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:vacuolated muscle fibers show reduplication of the basement membrane
n1=en:attacks may present during or after sleep | n2=en:vacuolated muscle fibers show reduplication of the basement membrane | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:vacuoles appear to be exocytosing material at the cell surface
n1=en:attacks may present during or after sleep | n2=en:vacuoles appear to be exocytosing material at the cell surface | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:vacuoles are autophagocytic
n1=en:attacks may present during or after sleep | n2=en:vacuoles are autophagocytic | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:vacuoles are autophagocytic and contain granular and membranous cellular debris
n1=en:attacks may present during or after sleep | n2=en:vacuoles are autophagocytic and contain granular and membranous cellular debris | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:vacuoles containing neutral lipids seen on muscle biopsy
n1=en:attacks may present during or after sleep | n2=en:vacuoles containing neutral lipids seen on muscle biopsy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:vacuoles in the myofiber cytoplasm
n1=en:attacks may present during or after sleep | n2=en:vacuoles in the myofiber cytoplasm | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:vacuoles predominantly in type 2 fibers seen on muscle biopsy
n1=en:attacks may present during or after sleep | n2=en:vacuoles predominantly in type 2 fibers seen on muscle biopsy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:variability in fiber size
n1=en:attacks may present during or after sleep | n2=en:variability in fiber size | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:variable decreases in mitochondrial respiratory complex enzyme activities
n1=en:attacks may present during or after sleep | n2=en:variable decreases in mitochondrial respiratory complex enzyme activities | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:variable deficiencies of mitochondrial respiratory chain enzymes
n1=en:attacks may present during or after sleep | n2=en:variable deficiencies of mitochondrial respiratory chain enzymes | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:variable fiber size
n1=en:attacks may present during or after sleep | n2=en:variable fiber size | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:variable severity of clinical and radiologic manifestations
n1=en:attacks may present during or after sleep | n2=en:variable severity of clinical and radiologic manifestations | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:variation in fibrodiameter seen on muscle biopsy
n1=en:attacks may present during or after sleep | n2=en:variation in fibrodiameter seen on muscle biopsy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:variation in skeletal muscle fiber diameter
n1=en:attacks may present during or after sleep | n2=en:variation in skeletal muscle fiber diameter | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:variation of fiber size and shape
n1=en:attacks may present during or after sleep | n2=en:variation of fiber size and shape | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:variation of myofiber diameter
n1=en:attacks may present during or after sleep | n2=en:variation of myofiber diameter | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:velopharyngeal muscle weakness
n1=en:attacks may present during or after sleep | n2=en:velopharyngeal muscle weakness | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:walking may be limited
n1=en:attacks may present during or after sleep | n2=en:walking may be limited | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:wasted lower leg muscles
n1=en:attacks may present during or after sleep | n2=en:wasted lower leg muscles | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:wasting of calf muscles (rare)
n1=en:attacks may present during or after sleep | n2=en:wasting of calf muscles (rare) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:wasting, especially temporal, neck, and facial muscles
n1=en:attacks may present during or after sleep | n2=en:wasting, especially temporal, neck, and facial muscles | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:water thesaurismosis
n1=en:attacks may present during or after sleep | n2=en:water thesaurismosis | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:weak extraocular muscles
n1=en:attacks may present during or after sleep | n2=en:weak extraocular muscles | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:weakness and wasting of the lower limbs
n1=en:attacks may present during or after sleep | n2=en:weakness and wasting of the lower limbs | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:weakness during pregnancy in some affected females has been reported
n1=en:attacks may present during or after sleep | n2=en:weakness during pregnancy in some affected females has been reported | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:weakness of all intrinsic hand muscles (later)
n1=en:attacks may present during or after sleep | n2=en:weakness of all intrinsic hand muscles (later) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:weakness of ankle and toe extensor (dorsiflexor) muscles
n1=en:attacks may present during or after sleep | n2=en:weakness of ankle and toe extensor (dorsiflexor) muscles | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:weakness of ankle plantar flexion
n1=en:attacks may present during or after sleep | n2=en:weakness of ankle plantar flexion | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:weakness of anterior compartment tibial muscles
n1=en:attacks may present during or after sleep | n2=en:weakness of anterior compartment tibial muscles | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:weakness of long finger extensor muscles (occurs later)
n1=en:attacks may present during or after sleep | n2=en:weakness of long finger extensor muscles (occurs later) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:weakness of neck extensors (rare)
n1=en:attacks may present during or after sleep | n2=en:weakness of neck extensors (rare) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:weakness of neck muscles may occur later
n1=en:attacks may present during or after sleep | n2=en:weakness of neck muscles may occur later | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:weakness of the anterior tibial muscle and toe extensors
n1=en:attacks may present during or after sleep | n2=en:weakness of the anterior tibial muscle and toe extensors | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:weakness of the extensor muscles of the hands (initially)
n1=en:attacks may present during or after sleep | n2=en:weakness of the extensor muscles of the hands (initially) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:weakness of the intrinsic hand muscles (in some patients)
n1=en:attacks may present during or after sleep | n2=en:weakness of the intrinsic hand muscles (in some patients) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:weakness of the muscles in the anterior compartment of the lower leg (particularly the tibialis anterior muscle)
n1=en:attacks may present during or after sleep | n2=en:weakness of the muscles in the anterior compartment of the lower leg (particularly the tibialis anterior muscle) | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:weakness worsened by activity
n1=en:attacks may present during or after sleep | n2=en:weakness worsened by activity | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:weakness, axial and limb muscles, upper limb muscles more affected than lower limbs
n1=en:attacks may present during or after sleep | n2=en:weakness, axial and limb muscles, upper limb muscles more affected than lower limbs | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:wheelchair dependency in 20% of patients by age 40
n1=en:attacks may present during or after sleep | n2=en:wheelchair dependency in 20% of patients by age 40 | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:wide variation in fiber size
n1=en:attacks may present during or after sleep | n2=en:wide variation in fiber size | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:wide-based gait
n1=en:attacks may present during or after sleep | n2=en:wide-based gait | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:widening of the synaptic cleft
n1=en:attacks may present during or after sleep | n2=en:widening of the synaptic cleft | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:wrist swelling
n1=en:attacks may present during or after sleep | n2=en:wrist swelling | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:z-band streaming
n1=en:attacks may present during or after sleep | n2=en:z-band streaming | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:z-disk degeneration
n1=en:attacks may present during or after sleep | n2=en:z-disk degeneration | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:z-disk streaming
n1=en:attacks may present during or after sleep | n2=en:z-disk streaming | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:z-disks with abnormal homogeneous material
n1=en:attacks may present during or after sleep | n2=en:z-disks with abnormal homogeneous material | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
en:z-line streaming see on electron microscopy
n1=en:attacks may present during or after sleep | n2=en:z-line streaming see on electron microscopy | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
exomphale
n1=en:attacks may present during or after sleep | n2=exomphale | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
exomphale congénitale
n1=en:attacks may present during or after sleep | n2=exomphale congénitale | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
faiblesse du muscle
n1=en:attacks may present during or after sleep | n2=faiblesse du muscle | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
faiblesse musculaire
n1=en:attacks may present during or after sleep | n2=faiblesse musculaire | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
fasciculation d'un muscle squelettique
n1=en:attacks may present during or after sleep | n2=fasciculation d'un muscle squelettique | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
fasciculation musculaire
n1=en:attacks may present during or after sleep | n2=fasciculation musculaire | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
fatigue musculaire
n1=en:attacks may present during or after sleep | n2=fatigue musculaire | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
fibrillation
n1=en:attacks may present during or after sleep | n2=fibrillation | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
hernie ombilicale
n1=en:attacks may present during or after sleep | n2=hernie ombilicale | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
hernie ombilicale congénitale
n1=en:attacks may present during or after sleep | n2=hernie ombilicale congénitale | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
hernies ombilicales
n1=en:attacks may present during or after sleep | n2=hernies ombilicales | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
hydramnios
n1=en:attacks may present during or after sleep | n2=hydramnios | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
hypertonie
n1=en:attacks may present during or after sleep | n2=hypertonie | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
hypertrophie staturale avec macroglossie et omphalocèle
n1=en:attacks may present during or after sleep | n2=hypertrophie staturale avec macroglossie et omphalocèle | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
hypoplasie glutéale
n1=en:attacks may present during or after sleep | n2=hypoplasie glutéale | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
hypothyroïdie (manifestations neuromusculaires dans l')
n1=en:attacks may present during or after sleep | n2=hypothyroïdie (manifestations neuromusculaires dans l') | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
hypotonie
n1=en:attacks may present during or after sleep | n2=hypotonie | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
hypotonie du nouveau-né
n1=en:attacks may present during or after sleep | n2=hypotonie du nouveau-né | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
hypotonie musculaire
n1=en:attacks may present during or after sleep | n2=hypotonie musculaire | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
Hypotonie musculaire
n1=en:attacks may present during or after sleep | n2=Hypotonie musculaire | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
hypotonie, obésité et incisives proéminentes
n1=en:attacks may present during or after sleep | n2=hypotonie, obésité et incisives proéminentes | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
incapable de marcher
n1=en:attacks may present during or after sleep | n2=incapable de marcher | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
jitter
n1=en:attacks may present during or after sleep | n2=jitter | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
létal
n1=en:attacks may present during or after sleep | n2=létal | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
létale
n1=en:attacks may present during or after sleep | n2=létale | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
lipome
n1=en:attacks may present during or after sleep | n2=lipome | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
lymphangiectasie
n1=en:attacks may present during or after sleep | n2=lymphangiectasie | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
macroglossie
n1=en:attacks may present during or after sleep | n2=macroglossie | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
maladie congénitale
n1=en:attacks may present during or after sleep | n2=maladie congénitale | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
Maladie congénitale
n1=en:attacks may present during or after sleep | n2=Maladie congénitale | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
malformation congénitale
n1=en:attacks may present during or after sleep | n2=malformation congénitale | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
mort du nouveau-né
n1=en:attacks may present during or after sleep | n2=mort du nouveau-né | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
mort néonatale
n1=en:attacks may present during or after sleep | n2=mort néonatale | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
myalgie
n1=en:attacks may present during or after sleep | n2=myalgie | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
myatrophie
n1=en:attacks may present during or after sleep | n2=myatrophie | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
myokymie
n1=en:attacks may present during or after sleep | n2=myokymie | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
myopathie myofibrillaire
n1=en:attacks may present during or after sleep | n2=myopathie myofibrillaire | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
oedème
n1=en:attacks may present during or after sleep | n2=oedème | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
Oedème
n1=en:attacks may present during or after sleep | n2=Oedème | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
omphalocèle
n1=en:attacks may present during or after sleep | n2=omphalocèle | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
omphalocèles
n1=en:attacks may present during or after sleep | n2=omphalocèles | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
ophtalmoplégie, hypotonie, ataxie, hypoacousie et athétose
n1=en:attacks may present during or after sleep | n2=ophtalmoplégie, hypotonie, ataxie, hypoacousie et athétose | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
palpitation
n1=en:attacks may present during or after sleep | n2=palpitation | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
paralysie générale
n1=en:attacks may present during or after sleep | n2=paralysie générale | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
parésie
n1=en:attacks may present during or after sleep | n2=parésie | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
parésié
n1=en:attacks may present during or after sleep | n2=parésié | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
parésie musculaire
n1=en:attacks may present during or after sleep | n2=parésie musculaire | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
pathologie congénitale
n1=en:attacks may present during or after sleep | n2=pathologie congénitale | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
polyhydramnios
n1=en:attacks may present during or after sleep | n2=polyhydramnios | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
polymyosite
n1=en:attacks may present during or after sleep | n2=polymyosite | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
présentation du siège
n1=en:attacks may present during or after sleep | n2=présentation du siège | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
remaniement nécrotique
n1=en:attacks may present during or after sleep | n2=remaniement nécrotique | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
rétinite pigmentaire d'apparition tardive
n1=en:attacks may present during or after sleep | n2=rétinite pigmentaire d'apparition tardive | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
rétinite pigmentaire et retard mental
n1=en:attacks may present during or after sleep | n2=rétinite pigmentaire et retard mental | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
rétinite pigmentaire liée au sexe récessive 3
n1=en:attacks may present during or after sleep | n2=rétinite pigmentaire liée au sexe récessive 3 | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
rétinite pigmentaire, surdité, retard mental, et hypogonadisme
n1=en:attacks may present during or after sleep | n2=rétinite pigmentaire, surdité, retard mental, et hypogonadisme | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
rétinopathie pigmentaire
n1=en:attacks may present during or after sleep | n2=rétinopathie pigmentaire | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
rhabdomyolyse
n1=en:attacks may present during or after sleep | n2=rhabdomyolyse | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
secousse musculaire
n1=en:attacks may present during or after sleep | n2=secousse musculaire | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
septicémie du nouveau-né
n1=en:attacks may present during or after sleep | n2=septicémie du nouveau-né | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
septicémie néonatale
n1=en:attacks may present during or after sleep | n2=septicémie néonatale | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
spasme carpo-pédal
n1=en:attacks may present during or after sleep | n2=spasme carpo-pédal | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
spasme carpopédal
n1=en:attacks may present during or after sleep | n2=spasme carpopédal | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
tare congénitale
n1=en:attacks may present during or after sleep | n2=tare congénitale | rel=r_associated | relid=0 | w=20
- en:attacks may present during or after sleep --
r_associated #0: 20 / 0.667 ->
vice de conformation
n1=en:attacks may present during or after sleep | n2=vice de conformation | rel=r_associated | relid=0 | w=20
| ≈ 2311 relations entrantes
- anomalie congénitale ---
r_associated #0: 414 -->
en:attacks may present during or after sleep
n1=anomalie congénitale | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=414
- faiblesse de muscle ---
r_associated #0: 414 -->
en:attacks may present during or after sleep
n1=faiblesse de muscle | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=414
- en:congenital abnormality ---
r_associated #0: 413 -->
en:attacks may present during or after sleep
n1=en:congenital abnormality | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=413
- en:muscle weakness ---
r_associated #0: 410 -->
en:attacks may present during or after sleep
n1=en:muscle weakness | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=410
- en:paresis ---
r_associated #0: 365 -->
en:attacks may present during or after sleep
n1=en:paresis | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=365
- faiblesse du muscle ---
r_associated #0: 365 -->
en:attacks may present during or after sleep
n1=faiblesse du muscle | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=365
- faiblesse musculaire ---
r_associated #0: 360 -->
en:attacks may present during or after sleep
n1=faiblesse musculaire | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=360
- parésie ---
r_associated #0: 355 -->
en:attacks may present during or after sleep
n1=parésie | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=355
- parésie musculaire ---
r_associated #0: 355 -->
en:attacks may present during or after sleep
n1=parésie musculaire | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=355
- malformation congénitale ---
r_associated #0: 351 -->
en:attacks may present during or after sleep
n1=malformation congénitale | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=351
- paralysie générale ---
r_associated #0: 350 -->
en:attacks may present during or after sleep
n1=paralysie générale | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=350
- en:congenital anomaly ---
r_associated #0: 348 -->
en:attacks may present during or after sleep
n1=en:congenital anomaly | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=348
- en:congenital defect ---
r_associated #0: 310 -->
en:attacks may present during or after sleep
n1=en:congenital defect | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=310
- en:face edema ---
r_associated #0: 307 -->
en:attacks may present during or after sleep
n1=en:face edema | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=307
- oedème facial ---
r_associated #0: 303 -->
en:attacks may present during or after sleep
n1=oedème facial | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=303
- hernie ombilicale congénitale ---
r_associated #0: 300 -->
en:attacks may present during or after sleep
n1=hernie ombilicale congénitale | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=300
- omphalocèle ---
r_associated #0: 300 -->
en:attacks may present during or after sleep
n1=omphalocèle | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=300
- en:omphalocele ---
r_associated #0: 299 -->
en:attacks may present during or after sleep
n1=en:omphalocele | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=299
- oedème de la face ---
r_associated #0: 298 -->
en:attacks may present during or after sleep
n1=oedème de la face | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=298
- oedème du visage ---
r_associated #0: 298 -->
en:attacks may present during or after sleep
n1=oedème du visage | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=298
- hernie ombilicale ---
r_associated #0: 297 -->
en:attacks may present during or after sleep
n1=hernie ombilicale | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=297
- exomphale ---
r_associated #0: 292 -->
en:attacks may present during or after sleep
n1=exomphale | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=292
- omphalocèles ---
r_associated #0: 291 -->
en:attacks may present during or after sleep
n1=omphalocèles | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=291
- exomphale congénitale ---
r_associated #0: 289 -->
en:attacks may present during or after sleep
n1=exomphale congénitale | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=289
- déformation congénitale ---
r_associated #0: 286 -->
en:attacks may present during or after sleep
n1=déformation congénitale | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=286
- en:umbilical hernia ---
r_associated #0: 280 -->
en:attacks may present during or after sleep
n1=en:umbilical hernia | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=280
- déficience congénitale ---
r_associated #0: 275 -->
en:attacks may present during or after sleep
n1=déficience congénitale | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=275
- hernies ombilicales ---
r_associated #0: 270 -->
en:attacks may present during or after sleep
n1=hernies ombilicales | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=270
- atrophie ---
r_associated #0: 237 -->
en:attacks may present during or after sleep
n1=atrophie | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=237
- en:atrophy ---
r_associated #0: 235 -->
en:attacks may present during or after sleep
n1=en:atrophy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=235
- septicémie du nouveau-né ---
r_associated #0: 228 -->
en:attacks may present during or after sleep
n1=septicémie du nouveau-né | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=228
- septicémie néonatale ---
r_associated #0: 225 -->
en:attacks may present during or after sleep
n1=septicémie néonatale | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=225
- en:neonatal sepsis ---
r_associated #0: 214 -->
en:attacks may present during or after sleep
n1=en:neonatal sepsis | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=214
- maladie congénitale ---
r_associated #0: 204 -->
en:attacks may present during or after sleep
n1=maladie congénitale | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=204
- difformité congénitale ---
r_associated #0: 195 -->
en:attacks may present during or after sleep
n1=difformité congénitale | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=195
- pathologie congénitale ---
r_associated #0: 195 -->
en:attacks may present during or after sleep
n1=pathologie congénitale | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=195
- oedème ---
r_associated #0: 193 -->
en:attacks may present during or after sleep
n1=oedème | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=193
- en:edema ---
r_associated #0: 190 -->
en:attacks may present during or after sleep
n1=en:edema | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=190
- en:arthralgia ---
r_associated #0: 153 -->
en:attacks may present during or after sleep
n1=en:arthralgia | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=153
- algie articulaire ---
r_associated #0: 150 -->
en:attacks may present during or after sleep
n1=algie articulaire | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=150
- douleur dans une articulation ---
r_associated #0: 150 -->
en:attacks may present during or after sleep
n1=douleur dans une articulation | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=150
- arthralgie ---
r_associated #0: 145 -->
en:attacks may present during or after sleep
n1=arthralgie | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=145
- douleur articulaire ---
r_associated #0: 145 -->
en:attacks may present during or after sleep
n1=douleur articulaire | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=145
- fasciculation d'un muscle squelettique ---
r_associated #0: 140 -->
en:attacks may present during or after sleep
n1=fasciculation d'un muscle squelettique | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=140
- en:fasciculation ---
r_associated #0: 138 -->
en:attacks may present during or after sleep
n1=en:fasciculation | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=138
- Oedème ---
r_associated #0: 136 -->
en:attacks may present during or after sleep
n1=Oedème | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=136
- en:muscular fasciculation ---
r_associated #0: 136 -->
en:attacks may present during or after sleep
n1=en:muscular fasciculation | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=136
- contraction clonique ---
r_associated #0: 135 -->
en:attacks may present during or after sleep
n1=contraction clonique | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=135
- en:muscle twitch ---
r_associated #0: 135 -->
en:attacks may present during or after sleep
n1=en:muscle twitch | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=135
- en:twitching ---
r_associated #0: 135 -->
en:attacks may present during or after sleep
n1=en:twitching | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=135
- secousse musculaire ---
r_associated #0: 135 -->
en:attacks may present during or after sleep
n1=secousse musculaire | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=135
- en:congenital malformation ---
r_associated #0: 130 -->
en:attacks may present during or after sleep
n1=en:congenital malformation | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=130
- mort du nouveau-né ---
r_associated #0: 130 -->
en:attacks may present during or after sleep
n1=mort du nouveau-né | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=130
- mort néonatale ---
r_associated #0: 127 -->
en:attacks may present during or after sleep
n1=mort néonatale | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=127
- en:neonatal death ---
r_associated #0: 125 -->
en:attacks may present during or after sleep
n1=en:neonatal death | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=125
- en:birth defect ---
r_associated #0: 120 -->
en:attacks may present during or after sleep
n1=en:birth defect | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=120
- œdème ---
r_associated #0: 110 -->
en:attacks may present during or after sleep
n1=œdème | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=110
- œdème ---
r_associated #0: 106 -->
en:attacks may present during or after sleep
n1=œdème | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=106
- en:general paresis ---
r_associated #0: 99 -->
en:attacks may present during or after sleep
n1=en:general paresis | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=99
- polyhydramnios ---
r_associated #0: 99 -->
en:attacks may present during or after sleep
n1=polyhydramnios | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=99
- en:polyhydramnios ---
r_associated #0: 95 -->
en:attacks may present during or after sleep
n1=en:polyhydramnios | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=95
- en:Umbilical hernia ---
r_associated #0: 90 -->
en:attacks may present during or after sleep
n1=en:Umbilical hernia | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=90
- en:joint pain ---
r_associated #0: 90 -->
en:attacks may present during or after sleep
n1=en:joint pain | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=90
- lipome ---
r_associated #0: 90 -->
en:attacks may present during or after sleep
n1=lipome | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=90
- en:hypotonia ---
r_associated #0: 88 -->
en:attacks may present during or after sleep
n1=en:hypotonia | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=88
- en:lipoma ---
r_associated #0: 86 -->
en:attacks may present during or after sleep
n1=en:lipoma | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=86
- hypotonie ---
r_associated #0: 85 -->
en:attacks may present during or after sleep
n1=hypotonie | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=85
- tare congénitale ---
r_associated #0: 80 -->
en:attacks may present during or after sleep
n1=tare congénitale | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=80
- Autophagosome ---
r_associated #0: 75 -->
en:attacks may present during or after sleep
n1=Autophagosome | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=75
- autophagosome ---
r_associated #0: 72 -->
en:attacks may present during or after sleep
n1=autophagosome | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=72
- parésié ---
r_associated #0: 70 -->
en:attacks may present during or after sleep
n1=parésié | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=70
- myatrophie ---
r_associated #0: 64 -->
en:attacks may present during or after sleep
n1=myatrophie | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=64
- spasme carpopédal ---
r_associated #0: 64 -->
en:attacks may present during or after sleep
n1=spasme carpopédal | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=64
- spasme carpo-pédal ---
r_associated #0: 63 -->
en:attacks may present during or after sleep
n1=spasme carpo-pédal | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=63
- en:carpopedal spasm ---
r_associated #0: 61 -->
en:attacks may present during or after sleep
n1=en:carpopedal spasm | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=61
- en:broad-based gait ---
r_associated #0: 57 -->
en:attacks may present during or after sleep
n1=en:broad-based gait | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=57
- élargissement du polygone de sustentation ---
r_associated #0: 57 -->
en:attacks may present during or after sleep
n1=élargissement du polygone de sustentation | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=57
- atrophie des muscles ---
r_associated #0: 56 -->
en:attacks may present during or after sleep
n1=atrophie des muscles | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=56
- bosse de bison ---
r_associated #0: 55 -->
en:attacks may present during or after sleep
n1=bosse de bison | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=55
- en:wide-based gait ---
r_associated #0: 55 -->
en:attacks may present during or after sleep
n1=en:wide-based gait | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=55
- hypertrophie staturale avec macroglossie et omphalocèle ---
r_associated #0: 55 -->
en:attacks may present during or after sleep
n1=hypertrophie staturale avec macroglossie et omphalocèle | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=55
- vice de conformation ---
r_associated #0: 55 -->
en:attacks may present during or after sleep
n1=vice de conformation | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=55
- en:muscle atrophy ---
r_associated #0: 53 -->
en:attacks may present during or after sleep
n1=en:muscle atrophy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=53
- en:neonatal hypotonia ---
r_associated #0: 53 -->
en:attacks may present during or after sleep
n1=en:neonatal hypotonia | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=53
- en:physical defect ---
r_associated #0: 52 -->
en:attacks may present during or after sleep
n1=en:physical defect | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=52
- dysphagia ---
r_associated #0: 51 -->
en:attacks may present during or after sleep
n1=dysphagia | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=51
- en:buffalo hump ---
r_associated #0: 51 -->
en:attacks may present during or after sleep
n1=en:buffalo hump | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=51
- hypotonie du nouveau-né ---
r_associated #0: 51 -->
en:attacks may present during or after sleep
n1=hypotonie du nouveau-né | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=51
- hypotonie musculaire ---
r_associated #0: 51 -->
en:attacks may present during or after sleep
n1=hypotonie musculaire | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=51
- dysphagie ---
r_associated #0: 50 -->
en:attacks may present during or after sleep
n1=dysphagie | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=50
- en:dysphagia ---
r_associated #0: 50 -->
en:attacks may present during or after sleep
n1=en:dysphagia | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=50
- en:macroglossia ---
r_associated #0: 50 -->
en:attacks may present during or after sleep
n1=en:macroglossia | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=50
- en:muscular atrophy ---
r_associated #0: 50 -->
en:attacks may present during or after sleep
n1=en:muscular atrophy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=50
- fonte musculaire ---
r_associated #0: 50 -->
en:attacks may present during or after sleep
n1=fonte musculaire | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=50
- en:feebleness ---
r_associated #0: 49 -->
en:attacks may present during or after sleep
n1=en:feebleness | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=49
- atrophie musculaire ---
r_associated #0: 48 -->
en:attacks may present during or after sleep
n1=atrophie musculaire | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=48
- empâtement de la nuque et du cou ---
r_associated #0: 48 -->
en:attacks may present during or after sleep
n1=empâtement de la nuque et du cou | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=48
- en:stokes-adams syndrome ---
r_associated #0: 48 -->
en:attacks may present during or after sleep
n1=en:stokes-adams syndrome | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=48
- cou de bison ---
r_associated #0: 47 -->
en:attacks may present during or after sleep
n1=cou de bison | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=47
- en:fibrillation ---
r_associated #0: 47 -->
en:attacks may present during or after sleep
n1=en:fibrillation | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=47
- hypotonie, obésité et incisives proéminentes ---
r_associated #0: 47 -->
en:attacks may present during or after sleep
n1=hypotonie, obésité et incisives proéminentes | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=47
- en:major physical defect ---
r_associated #0: 46 -->
en:attacks may present during or after sleep
n1=en:major physical defect | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=46
- en:syphilitic meningoencephalitis ---
r_associated #0: 46 -->
en:attacks may present during or after sleep
n1=en:syphilitic meningoencephalitis | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=46
- en:teratosis ---
r_associated #0: 46 -->
en:attacks may present during or after sleep
n1=en:teratosis | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=46
- fibrillation ---
r_associated #0: 46 -->
en:attacks may present during or after sleep
n1=fibrillation | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=46
- en:Stokes-Adams syndrome ---
r_associated #0: 45 -->
en:attacks may present during or after sleep
n1=en:Stokes-Adams syndrome | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=45
- létal ---
r_associated #0: 45 -->
en:attacks may present during or after sleep
n1=létal | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=45
- anomalie du développement ---
r_associated #0: 44 -->
en:attacks may present during or after sleep
n1=anomalie du développement | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=44
- rétinite pigmentaire d'apparition tardive ---
r_associated #0: 44 -->
en:attacks may present during or after sleep
n1=rétinite pigmentaire d'apparition tardive | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=44
- Hypotonie musculaire ---
r_associated #0: 43 -->
en:attacks may present during or after sleep
n1=Hypotonie musculaire | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=43
- en:atrophy of the lower leg muscles ---
r_associated #0: 43 -->
en:attacks may present during or after sleep
n1=en:atrophy of the lower leg muscles | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=43
- en:congenital myasthenic syndrome (reported in 1 patient who survived to age 20 years) ---
r_associated #0: 43 -->
en:attacks may present during or after sleep
n1=en:congenital myasthenic syndrome (reported in 1 patient who survived to age 20 years) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=43
- en:cores contain densely packed myofilaments ---
r_associated #0: 43 -->
en:attacks may present during or after sleep
n1=en:cores contain densely packed myofilaments | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=43
- en:diagnosis requires 3 major features (a positive family history is also considered a major feature) and at least 3 minor features ---
r_associated #0: 43 -->
en:attacks may present during or after sleep
n1=en:diagnosis requires 3 major features (a positive family history is also considered a major feature) and at least 3 minor features | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=43
- en:hand and foot lesions can severely limit dexterity (due to flexion contractures) and mobility (due to painful fissures) ---
r_associated #0: 43 -->
en:attacks may present during or after sleep
n1=en:hand and foot lesions can severely limit dexterity (due to flexion contractures) and mobility (due to painful fissures) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=43
- en:hearing loss is nonprogressive ---
r_associated #0: 43 -->
en:attacks may present during or after sleep
n1=en:hearing loss is nonprogressive | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=43
- en:incidence - 1/16,000 live births ---
r_associated #0: 43 -->
en:attacks may present during or after sleep
n1=en:incidence - 1/16,000 live births | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=43
- en:internal nuclei seen on muscle biopsy ---
r_associated #0: 43 -->
en:attacks may present during or after sleep
n1=en:internal nuclei seen on muscle biopsy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=43
- en:lesions provoked by friction, sun exposure, heat, and injury ---
r_associated #0: 43 -->
en:attacks may present during or after sleep
n1=en:lesions provoked by friction, sun exposure, heat, and injury | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=43
- en:muscle biopsy shows fiber type disproportion ---
r_associated #0: 43 -->
en:attacks may present during or after sleep
n1=en:muscle biopsy shows fiber type disproportion | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=43
- en:muscle biopsy shows mitochondrial paracrystalline inclusions ---
r_associated #0: 43 -->
en:attacks may present during or after sleep
n1=en:muscle biopsy shows mitochondrial paracrystalline inclusions | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=43
- en:muscle pain and cramps following exercise ---
r_associated #0: 43 -->
en:attacks may present during or after sleep
n1=en:muscle pain and cramps following exercise | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=43
- en:myalgia (in some patients) ---
r_associated #0: 43 -->
en:attacks may present during or after sleep
n1=en:myalgia (in some patients) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=43
- en:myopathy, mild ---
r_associated #0: 43 -->
en:attacks may present during or after sleep
n1=en:myopathy, mild | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=43
- en:oedema ---
r_associated #0: 43 -->
en:attacks may present during or after sleep
n1=en:oedema | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=43
- en:partial lipodystrophy (abnormal distribution of adipose tissue) ---
r_associated #0: 43 -->
en:attacks may present during or after sleep
n1=en:partial lipodystrophy (abnormal distribution of adipose tissue) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=43
- en:some patients may not present until adulthood ---
r_associated #0: 43 -->
en:attacks may present during or after sleep
n1=en:some patients may not present until adulthood | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=43
- en:swelling of the hands and feet (in 1 patient) ---
r_associated #0: 43 -->
en:attacks may present during or after sleep
n1=en:swelling of the hands and feet (in 1 patient) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=43
- en:three unrelated families have been reported (last curated october 2015) ---
r_associated #0: 43 -->
en:attacks may present during or after sleep
n1=en:three unrelated families have been reported (last curated october 2015) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=43
- en:vacuoles appear to be exocytosing material at the cell surface ---
r_associated #0: 43 -->
en:attacks may present during or after sleep
n1=en:vacuoles appear to be exocytosing material at the cell surface | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=43
- en:variable age of onset (7-59 years) ---
r_associated #0: 43 -->
en:attacks may present during or after sleep
n1=en:variable age of onset (7-59 years) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=43
- en:variable age of onset (range 4 months to 45 years) ---
r_associated #0: 43 -->
en:attacks may present during or after sleep
n1=en:variable age of onset (range 4 months to 45 years) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=43
- en:angulated atrophic muscle fibers ---
r_associated #0: 42 -->
en:attacks may present during or after sleep
n1=en:angulated atrophic muscle fibers | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=42
- en:attacks precipitated by cold temperature ---
r_associated #0: 42 -->
en:attacks may present during or after sleep
n1=en:attacks precipitated by cold temperature | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=42
- en:autosomal recessive inheritance with earlier onset has been reported in 3 patients ---
r_associated #0: 42 -->
en:attacks may present during or after sleep
n1=en:autosomal recessive inheritance with earlier onset has been reported in 3 patients | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=42
- en:cellulitis or infection may occur ---
r_associated #0: 42 -->
en:attacks may present during or after sleep
n1=en:cellulitis or infection may occur | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=42
- en:death in fourth to fifth decade ---
r_associated #0: 42 -->
en:attacks may present during or after sleep
n1=en:death in fourth to fifth decade | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=42
- en:deficiency of mitochondrial respiratory enzymes seen on muscle biopsy ---
r_associated #0: 42 -->
en:attacks may present during or after sleep
n1=en:deficiency of mitochondrial respiratory enzymes seen on muscle biopsy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=42
- en:difficulty walking up stairs ---
r_associated #0: 42 -->
en:attacks may present during or after sleep
n1=en:difficulty walking up stairs | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=42
- en:early death often occurs from cardiac failure or infection ---
r_associated #0: 42 -->
en:attacks may present during or after sleep
n1=en:early death often occurs from cardiac failure or infection | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=42
- en:gigantism and hyperplastic visceromegaly ---
r_associated #0: 42 -->
en:attacks may present during or after sleep
n1=en:gigantism and hyperplastic visceromegaly | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=42
- en:hairy elbows become apparent in infancy and regress during adolescence ---
r_associated #0: 42 -->
en:attacks may present during or after sleep
n1=en:hairy elbows become apparent in infancy and regress during adolescence | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=42
- en:late-adult onset ---
r_associated #0: 42 -->
en:attacks may present during or after sleep
n1=en:late-adult onset | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=42
- en:lethal ---
r_associated #0: 42 -->
en:attacks may present during or after sleep
n1=en:lethal | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=42
- en:lipodystrophic appearance may be mild or not present ---
r_associated #0: 42 -->
en:attacks may present during or after sleep
n1=en:lipodystrophic appearance may be mild or not present | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=42
- en:major cause of death is heart failure ---
r_associated #0: 42 -->
en:attacks may present during or after sleep
n1=en:major cause of death is heart failure | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=42
- en:mean age of onset, 5 years ---
r_associated #0: 42 -->
en:attacks may present during or after sleep
n1=en:mean age of onset, 5 years | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=42
- en:muscle biopsy shows sarcoplasmic rods in myofibers ---
r_associated #0: 42 -->
en:attacks may present during or after sleep
n1=en:muscle biopsy shows sarcoplasmic rods in myofibers | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=42
- en:myotonia (delayed muscle relaxation after contraction) ---
r_associated #0: 42 -->
en:attacks may present during or after sleep
n1=en:myotonia (delayed muscle relaxation after contraction) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=42
- en:myotonia, cold-sensitive, predominantly of face, tongue, forearm, and hand precipitated by muscle cooling or cold exposure or rest after exercise ---
r_associated #0: 42 -->
en:attacks may present during or after sleep
n1=en:myotonia, cold-sensitive, predominantly of face, tongue, forearm, and hand precipitated by muscle cooling or cold exposure or rest after exercise | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=42
- en:some patients have onset in second decade of life ---
r_associated #0: 42 -->
en:attacks may present during or after sleep
n1=en:some patients have onset in second decade of life | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=42
- en:allelic to metaphyseal dysplasia without hypotrichosis (250460) ---
r_associated #0: 41 -->
en:attacks may present during or after sleep
n1=en:allelic to metaphyseal dysplasia without hypotrichosis (250460) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=41
- en:atrophy, neurogenic muscular ---
r_associated #0: 41 -->
en:attacks may present during or after sleep
n1=en:atrophy, neurogenic muscular | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=41
- en:autophagosome ---
r_associated #0: 41 -->
en:attacks may present during or after sleep
n1=en:autophagosome | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=41
- en:biopsy shows rimmed vacuoles, central nuclei, and variation in fiber size ---
r_associated #0: 41 -->
en:attacks may present during or after sleep
n1=en:biopsy shows rimmed vacuoles, central nuclei, and variation in fiber size | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=41
- en:degenerating nerve terminals ---
r_associated #0: 41 -->
en:attacks may present during or after sleep
n1=en:degenerating nerve terminals | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=41
- en:episode frequency is monthly to yearly, and decreases with age ---
r_associated #0: 41 -->
en:attacks may present during or after sleep
n1=en:episode frequency is monthly to yearly, and decreases with age | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=41
- en:giant granules in muscle cells ---
r_associated #0: 41 -->
en:attacks may present during or after sleep
n1=en:giant granules in muscle cells | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=41
- en:gluteus maximus and thigh adductors most affected ---
r_associated #0: 41 -->
en:attacks may present during or after sleep
n1=en:gluteus maximus and thigh adductors most affected | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=41
- en:head drop due to neck muscle weakness ---
r_associated #0: 41 -->
en:attacks may present during or after sleep
n1=en:head drop due to neck muscle weakness | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=41
- en:hypotonia, infantile, severe ---
r_associated #0: 41 -->
en:attacks may present during or after sleep
n1=en:hypotonia, infantile, severe | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=41
- en:inflammatory cells absent ---
r_associated #0: 41 -->
en:attacks may present during or after sleep
n1=en:inflammatory cells absent | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=41
- en:liver symptoms improve with age and disappear after puberty ---
r_associated #0: 41 -->
en:attacks may present during or after sleep
n1=en:liver symptoms improve with age and disappear after puberty | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=41
- en:may result in death in neonatal period or early childhood ---
r_associated #0: 41 -->
en:attacks may present during or after sleep
n1=en:may result in death in neonatal period or early childhood | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=41
- en:muscle biopsy may show inflammatory changes ---
r_associated #0: 41 -->
en:attacks may present during or after sleep
n1=en:muscle biopsy may show inflammatory changes | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=41
- en:muscle biopsy shows myopathic changes ---
r_associated #0: 41 -->
en:attacks may present during or after sleep
n1=en:muscle biopsy shows myopathic changes | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=41
- en:muscle weakness, proximal greater than distal ---
r_associated #0: 41 -->
en:attacks may present during or after sleep
n1=en:muscle weakness, proximal greater than distal | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=41
- en:normal or increased facial and neck adipose tissue ---
r_associated #0: 41 -->
en:attacks may present during or after sleep
n1=en:normal or increased facial and neck adipose tissue | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=41
- en:quadriceps aplasia ---
r_associated #0: 41 -->
en:attacks may present during or after sleep
n1=en:quadriceps aplasia | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=41
- en:usually a unilateral disorder ---
r_associated #0: 41 -->
en:attacks may present during or after sleep
n1=en:usually a unilateral disorder | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=41
- lymphangiectasie ---
r_associated #0: 41 -->
en:attacks may present during or after sleep
n1=lymphangiectasie | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=41
- amyotrophie ---
r_associated #0: 40 -->
en:attacks may present during or after sleep
n1=amyotrophie | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=40
- en:abnormal sensitivity to therapeutic radiation ---
r_associated #0: 40 -->
en:attacks may present during or after sleep
n1=en:abnormal sensitivity to therapeutic radiation | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=40
- en:angular fibers (in some patients) ---
r_associated #0: 40 -->
en:attacks may present during or after sleep
n1=en:angular fibers (in some patients) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=40
- en:childhood onset ---
r_associated #0: 40 -->
en:attacks may present during or after sleep
n1=en:childhood onset | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=40
- en:death often occurs in childhood ---
r_associated #0: 40 -->
en:attacks may present during or after sleep
n1=en:death often occurs in childhood | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=40
- en:diarrhea worsens in parallel with increases in severity of skin disease ---
r_associated #0: 40 -->
en:attacks may present during or after sleep
n1=en:diarrhea worsens in parallel with increases in severity of skin disease | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=40
- en:difficulty running and jumping ---
r_associated #0: 40 -->
en:attacks may present during or after sleep
n1=en:difficulty running and jumping | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=40
- en:difficulty standing ---
r_associated #0: 40 -->
en:attacks may present during or after sleep
n1=en:difficulty standing | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=40
- en:enlarged terminal cisternae of the sarcoplasmic reticulum ---
r_associated #0: 40 -->
en:attacks may present during or after sleep
n1=en:enlarged terminal cisternae of the sarcoplasmic reticulum | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=40
- en:facial edema ---
r_associated #0: 40 -->
en:attacks may present during or after sleep
n1=en:facial edema | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=40
- en:incidence 8/1,000 newborns ---
r_associated #0: 40 -->
en:attacks may present during or after sleep
n1=en:incidence 8/1,000 newborns | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=40
- en:increased glycogen ---
r_associated #0: 40 -->
en:attacks may present during or after sleep
n1=en:increased glycogen | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=40
- en:loss of independent ambulation in the second decade ---
r_associated #0: 40 -->
en:attacks may present during or after sleep
n1=en:loss of independent ambulation in the second decade | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=40
- en:many fibers with internal nuclei ---
r_associated #0: 40 -->
en:attacks may present during or after sleep
n1=en:many fibers with internal nuclei | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=40
- en:mitochondria show paracrystalline inclusions ---
r_associated #0: 40 -->
en:attacks may present during or after sleep
n1=en:mitochondria show paracrystalline inclusions | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=40
- en:muscle biopsy shows dystrophic features (later in disease course) ---
r_associated #0: 40 -->
en:attacks may present during or after sleep
n1=en:muscle biopsy shows dystrophic features (later in disease course) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=40
- en:muscle weakness, episodic ---
r_associated #0: 40 -->
en:attacks may present during or after sleep
n1=en:muscle weakness, episodic | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=40
- en:muscular weakness ---
r_associated #0: 40 -->
en:attacks may present during or after sleep
n1=en:muscular weakness | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=40
- en:scapuloperoneal amyotrophy ---
r_associated #0: 40 -->
en:attacks may present during or after sleep
n1=en:scapuloperoneal amyotrophy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=40
- en:severe disability within 20 years of onset ---
r_associated #0: 40 -->
en:attacks may present during or after sleep
n1=en:severe disability within 20 years of onset | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=40
- en:shoulder girdle muscle atrophy ---
r_associated #0: 40 -->
en:attacks may present during or after sleep
n1=en:shoulder girdle muscle atrophy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=40
- en:symptoms precipitated by stress, exertion, fatigue, alcohol ---
r_associated #0: 40 -->
en:attacks may present during or after sleep
n1=en:symptoms precipitated by stress, exertion, fatigue, alcohol | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=40
- en:twenty-five percent of affected babies are stillborn ---
r_associated #0: 40 -->
en:attacks may present during or after sleep
n1=en:twenty-five percent of affected babies are stillborn | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=40
- en:two unrelated families have been reported (last curated may 2013) ---
r_associated #0: 40 -->
en:attacks may present during or after sleep
n1=en:two unrelated families have been reported (last curated may 2013) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=40
- en:usually no myopathic changes on biopsy ---
r_associated #0: 40 -->
en:attacks may present during or after sleep
n1=en:usually no myopathic changes on biopsy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=40
- en:variable age at onset, first to second decades ---
r_associated #0: 40 -->
en:attacks may present during or after sleep
n1=en:variable age at onset, first to second decades | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=40
- en:weakness during pregnancy in some affected females has been reported ---
r_associated #0: 40 -->
en:attacks may present during or after sleep
n1=en:weakness during pregnancy in some affected females has been reported | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=40
- hypothyroïdie (manifestations neuromusculaires dans l') ---
r_associated #0: 40 -->
en:attacks may present during or after sleep
n1=hypothyroïdie (manifestations neuromusculaires dans l') | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=40
- atrophie musculaire neurogénique ---
r_associated #0: 39 -->
en:attacks may present during or after sleep
n1=atrophie musculaire neurogénique | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=39
- en:abnormal muscle fibers with amorphous, granular, or hyaline deposits ---
r_associated #0: 39 -->
en:attacks may present during or after sleep
n1=en:abnormal muscle fibers with amorphous, granular, or hyaline deposits | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=39
- en:clinically 'silent' nystagmus evident on eye movement recording in carrier females ---
r_associated #0: 39 -->
en:attacks may present during or after sleep
n1=en:clinically 'silent' nystagmus evident on eye movement recording in carrier females | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=39
- en:distal muscle atrophy (lower limbs more affected than upper limbs) ---
r_associated #0: 39 -->
en:attacks may present during or after sleep
n1=en:distal muscle atrophy (lower limbs more affected than upper limbs) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=39
- en:fibrous dysplasia (rare) ---
r_associated #0: 39 -->
en:attacks may present during or after sleep
n1=en:fibrous dysplasia (rare) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=39
- en:generalized limb muscle atrophy ---
r_associated #0: 39 -->
en:attacks may present during or after sleep
n1=en:generalized limb muscle atrophy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=39
- en:hyperlipidemia may be partially responsive to fat-restricted diet ---
r_associated #0: 39 -->
en:attacks may present during or after sleep
n1=en:hyperlipidemia may be partially responsive to fat-restricted diet | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=39
- en:incomplete penetrance in some families ---
r_associated #0: 39 -->
en:attacks may present during or after sleep
n1=en:incomplete penetrance in some families | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=39
- en:initial hearing loss is mild progressing to severe or profound by the seventh decade ---
r_associated #0: 39 -->
en:attacks may present during or after sleep
n1=en:initial hearing loss is mild progressing to severe or profound by the seventh decade | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=39
- en:muscle atrophy restricted to the upper limb ---
r_associated #0: 39 -->
en:attacks may present during or after sleep
n1=en:muscle atrophy restricted to the upper limb | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=39
- en:muscle biopsy shows merosin (156225)-positive muscle fibers ---
r_associated #0: 39 -->
en:attacks may present during or after sleep
n1=en:muscle biopsy shows merosin (156225)-positive muscle fibers | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=39
- en:myalgia ---
r_associated #0: 39 -->
en:attacks may present during or after sleep
n1=en:myalgia | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=39
- en:proliferation of fatty tissue in muscle (in some patients) ---
r_associated #0: 39 -->
en:attacks may present during or after sleep
n1=en:proliferation of fatty tissue in muscle (in some patients) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=39
- en:recovery between attacks ---
r_associated #0: 39 -->
en:attacks may present during or after sleep
n1=en:recovery between attacks | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=39
- en:reduced postsynaptic cleft area ---
r_associated #0: 39 -->
en:attacks may present during or after sleep
n1=en:reduced postsynaptic cleft area | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=39
- en:rimmed vacuoles with basophilic granular material ---
r_associated #0: 39 -->
en:attacks may present during or after sleep
n1=en:rimmed vacuoles with basophilic granular material | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=39
- en:signs of denervation seen on biopsy ---
r_associated #0: 39 -->
en:attacks may present during or after sleep
n1=en:signs of denervation seen on biopsy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=39
- en:skeletal muscle damage ---
r_associated #0: 39 -->
en:attacks may present during or after sleep
n1=en:skeletal muscle damage | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=39
- en:wasting of calf muscles (rare) ---
r_associated #0: 39 -->
en:attacks may present during or after sleep
n1=en:wasting of calf muscles (rare) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=39
- en:asymmetric muscle involvement ---
r_associated #0: 38 -->
en:attacks may present during or after sleep
n1=en:asymmetric muscle involvement | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=38
- en:biopsy shows myopathic and dystrophic changes ---
r_associated #0: 38 -->
en:attacks may present during or after sleep
n1=en:biopsy shows myopathic and dystrophic changes | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=38
- en:death due to rapidly progressive pulmonary fibrosis in infancy ---
r_associated #0: 38 -->
en:attacks may present during or after sleep
n1=en:death due to rapidly progressive pulmonary fibrosis in infancy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=38
- en:death in early childhood may occur ---
r_associated #0: 38 -->
en:attacks may present during or after sleep
n1=en:death in early childhood may occur | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=38
- en:dystrophic changes occur later ---
r_associated #0: 38 -->
en:attacks may present during or after sleep
n1=en:dystrophic changes occur later | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=38
- en:dystrophic changes seen on skeletal muscle biopsy ---
r_associated #0: 38 -->
en:attacks may present during or after sleep
n1=en:dystrophic changes seen on skeletal muscle biopsy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=38
- en:few familial (parent offspring) cases reported ---
r_associated #0: 38 -->
en:attacks may present during or after sleep
n1=en:few familial (parent offspring) cases reported | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=38
- en:general paralysis ---
r_associated #0: 38 -->
en:attacks may present during or after sleep
n1=en:general paralysis | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=38
- en:high frequency of levodopa-induced dyskinesias ---
r_associated #0: 38 -->
en:attacks may present during or after sleep
n1=en:high frequency of levodopa-induced dyskinesias | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=38
- en:hypertrophy of calves (in 3 of 6 patients) ---
r_associated #0: 38 -->
en:attacks may present during or after sleep
n1=en:hypertrophy of calves (in 3 of 6 patients) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=38
- en:inability to stand on tiptoes ---
r_associated #0: 38 -->
en:attacks may present during or after sleep
n1=en:inability to stand on tiptoes | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=38
- en:lipomas or lipomatous masses (most cases) ---
r_associated #0: 38 -->
en:attacks may present during or after sleep
n1=en:lipomas or lipomatous masses (most cases) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=38
- en:neurogenic atrophy seen on muscle biopsy ---
r_associated #0: 38 -->
en:attacks may present during or after sleep
n1=en:neurogenic atrophy seen on muscle biopsy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=38
- en:one lebanese family has been reported ---
r_associated #0: 38 -->
en:attacks may present during or after sleep
n1=en:one lebanese family has been reported | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=38
- en:onset in first decade (as early as infancy in some) ---
r_associated #0: 38 -->
en:attacks may present during or after sleep
n1=en:onset in first decade (as early as infancy in some) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=38
- en:paralytic dementia ---
r_associated #0: 38 -->
en:attacks may present during or after sleep
n1=en:paralytic dementia | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=38
- en:percussion myotonias ---
r_associated #0: 38 -->
en:attacks may present during or after sleep
n1=en:percussion myotonias | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=38
- en:ragged-red muscle fibers ---
r_associated #0: 38 -->
en:attacks may present during or after sleep
n1=en:ragged-red muscle fibers | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=38
- en:shortening of flexor profundus muscle-tendon unit ---
r_associated #0: 38 -->
en:attacks may present during or after sleep
n1=en:shortening of flexor profundus muscle-tendon unit | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=38
- en:sparing of the brachioradialis muscle (gives appearance of 'oblique amyotrophy') ---
r_associated #0: 38 -->
en:attacks may present during or after sleep
n1=en:sparing of the brachioradialis muscle (gives appearance of 'oblique amyotrophy') | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=38
- en:absence of caveolin-3 staining ---
r_associated #0: 37 -->
en:attacks may present during or after sleep
n1=en:absence of caveolin-3 staining | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=37
- en:acetazolamide may worsen symptoms ---
r_associated #0: 37 -->
en:attacks may present during or after sleep
n1=en:acetazolamide may worsen symptoms | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=37
- en:adrenal cytomegaly ---
r_associated #0: 37 -->
en:attacks may present during or after sleep
n1=en:adrenal cytomegaly | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=37
- en:based on report of 2 unrelated patients ---
r_associated #0: 37 -->
en:attacks may present during or after sleep
n1=en:based on report of 2 unrelated patients | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=37
- en:calf muscle pseudohypertrophy ---
r_associated #0: 37 -->
en:attacks may present during or after sleep
n1=en:calf muscle pseudohypertrophy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=37
- en:exertional fatigue ---
r_associated #0: 37 -->
en:attacks may present during or after sleep
n1=en:exertional fatigue | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=37
- en:four unrelated patients have been reported (last curated june 2014) ---
r_associated #0: 37 -->
en:attacks may present during or after sleep
n1=en:four unrelated patients have been reported (last curated june 2014) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=37
- en:high risk of recurrence after surgery ---
r_associated #0: 37 -->
en:attacks may present during or after sleep
n1=en:high risk of recurrence after surgery | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=37
- en:lipoatrophy, generalized ---
r_associated #0: 37 -->
en:attacks may present during or after sleep
n1=en:lipoatrophy, generalized | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=37
- en:loss of subcutaneous adipose tissue from upper limbs and trunk ---
r_associated #0: 37 -->
en:attacks may present during or after sleep
n1=en:loss of subcutaneous adipose tissue from upper limbs and trunk | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=37
- en:lymphangiectasia ---
r_associated #0: 37 -->
en:attacks may present during or after sleep
n1=en:lymphangiectasia | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=37
- en:lymphography shows increased number of dilated lymphatic vessels (hyperplasia) ---
r_associated #0: 37 -->
en:attacks may present during or after sleep
n1=en:lymphography shows increased number of dilated lymphatic vessels (hyperplasia) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=37
- en:male-to-female ratio of 3:2 in childhood cases ---
r_associated #0: 37 -->
en:attacks may present during or after sleep
n1=en:male-to-female ratio of 3:2 in childhood cases | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=37
- en:muscle stiffness (in older patients) ---
r_associated #0: 37 -->
en:attacks may present during or after sleep
n1=en:muscle stiffness (in older patients) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=37
- en:ombilical hernia ---
r_associated #0: 37 -->
en:attacks may present during or after sleep
n1=en:ombilical hernia | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=37
- en:proximal muscle weakness more severe than distal muscle weakness ---
r_associated #0: 37 -->
en:attacks may present during or after sleep
n1=en:proximal muscle weakness more severe than distal muscle weakness | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=37
- en:small nerve terminals ---
r_associated #0: 37 -->
en:attacks may present during or after sleep
n1=en:small nerve terminals | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=37
- en:tetanus-like muscle contractions ---
r_associated #0: 37 -->
en:attacks may present during or after sleep
n1=en:tetanus-like muscle contractions | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=37
- en:two sibs have been reported (last curated november 2015) ---
r_associated #0: 37 -->
en:attacks may present during or after sleep
n1=en:two sibs have been reported (last curated november 2015) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=37
- en:weakness of ankle and toe extensor (dorsiflexor) muscles ---
r_associated #0: 37 -->
en:attacks may present during or after sleep
n1=en:weakness of ankle and toe extensor (dorsiflexor) muscles | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=37
- hypertonie ---
r_associated #0: 37 -->
en:attacks may present during or after sleep
n1=hypertonie | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=37
- macroglossie ---
r_associated #0: 37 -->
en:attacks may present during or after sleep
n1=macroglossie | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=37
- en:abnormal variation in fiber type seen on muscle biopsy ---
r_associated #0: 36 -->
en:attacks may present during or after sleep
n1=en:abnormal variation in fiber type seen on muscle biopsy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=36
- en:compound heterozygosity common ---
r_associated #0: 36 -->
en:attacks may present during or after sleep
n1=en:compound heterozygosity common | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=36
- en:congophilic inclusions ---
r_associated #0: 36 -->
en:attacks may present during or after sleep
n1=en:congophilic inclusions | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=36
- en:contractures of upper limbs (in some patients) ---
r_associated #0: 36 -->
en:attacks may present during or after sleep
n1=en:contractures of upper limbs (in some patients) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=36
- en:decremental response to repetitive stimulation at neuromuscular junction ---
r_associated #0: 36 -->
en:attacks may present during or after sleep
n1=en:decremental response to repetitive stimulation at neuromuscular junction | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=36
- en:difficulty walking on heels occurs prior to difficulty walking on toes ---
r_associated #0: 36 -->
en:attacks may present during or after sleep
n1=en:difficulty walking on heels occurs prior to difficulty walking on toes | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=36
- en:distal atrophy of the legs ---
r_associated #0: 36 -->
en:attacks may present during or after sleep
n1=en:distal atrophy of the legs | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=36
- en:exomphalos ---
r_associated #0: 36 -->
en:attacks may present during or after sleep
n1=en:exomphalos | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=36
- en:gonadal and somatic mosaicism reported in parent ---
r_associated #0: 36 -->
en:attacks may present during or after sleep
n1=en:gonadal and somatic mosaicism reported in parent | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=36
- en:hypertonia ---
r_associated #0: 36 -->
en:attacks may present during or after sleep
n1=en:hypertonia | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=36
- en:incidence of 1 in 39,000 ---
r_associated #0: 36 -->
en:attacks may present during or after sleep
n1=en:incidence of 1 in 39,000 | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=36
- en:increased fatigue ---
r_associated #0: 36 -->
en:attacks may present during or after sleep
n1=en:increased fatigue | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=36
- en:lower limb involvement occurs before upper limb involvement ---
r_associated #0: 36 -->
en:attacks may present during or after sleep
n1=en:lower limb involvement occurs before upper limb involvement | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=36
- en:macies ---
r_associated #0: 36 -->
en:attacks may present during or after sleep
n1=en:macies | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=36
- en:muscle biopsy shows myofibrillar changes ---
r_associated #0: 36 -->
en:attacks may present during or after sleep
n1=en:muscle biopsy shows myofibrillar changes | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=36
- en:nonspecific myopathic changes without dystrophic or inflammatory changes seen on muscle biopsy ---
r_associated #0: 36 -->
en:attacks may present during or after sleep
n1=en:nonspecific myopathic changes without dystrophic or inflammatory changes seen on muscle biopsy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=36
- en:precipitated by general anesthesia ---
r_associated #0: 36 -->
en:attacks may present during or after sleep
n1=en:precipitated by general anesthesia | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=36
- en:progressive clinical course with onset in childhood ---
r_associated #0: 36 -->
en:attacks may present during or after sleep
n1=en:progressive clinical course with onset in childhood | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=36
- en:retinitis pigmentosa ---
r_associated #0: 36 -->
en:attacks may present during or after sleep
n1=en:retinitis pigmentosa | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=36
- en:sensorineural hearing loss may be presenting feature ---
r_associated #0: 36 -->
en:attacks may present during or after sleep
n1=en:sensorineural hearing loss may be presenting feature | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=36
- en:severe ambulatory restriction ---
r_associated #0: 36 -->
en:attacks may present during or after sleep
n1=en:severe ambulatory restriction | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=36
- en:slim, muscular build (in some patients) ---
r_associated #0: 36 -->
en:attacks may present during or after sleep
n1=en:slim, muscular build (in some patients) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=36
- en:sparing of small hand and finger muscles ---
r_associated #0: 36 -->
en:attacks may present during or after sleep
n1=en:sparing of small hand and finger muscles | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=36
- en:symptoms precipitated by alcohol, caffeine, fatigue, stress, exertion, ovulation, menstruation ---
r_associated #0: 36 -->
en:attacks may present during or after sleep
n1=en:symptoms precipitated by alcohol, caffeine, fatigue, stress, exertion, ovulation, menstruation | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=36
- en:variable expression ---
r_associated #0: 36 -->
en:attacks may present during or after sleep
n1=en:variable expression | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=36
- en:virtually all patients with this condition are female ---
r_associated #0: 36 -->
en:attacks may present during or after sleep
n1=en:virtually all patients with this condition are female | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=36
- ophtalmoplégie, hypotonie, ataxie, hypoacousie et athétose ---
r_associated #0: 36 -->
en:attacks may present during or after sleep
n1=ophtalmoplégie, hypotonie, ataxie, hypoacousie et athétose | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=36
- rhabdomyolyse ---
r_associated #0: 36 -->
en:attacks may present during or after sleep
n1=rhabdomyolyse | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=36
- œdème de la face ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=œdème de la face | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- atrophie musculaire neurogène ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=atrophie musculaire neurogène | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:abnormal fat accumulation below the triceps (in some patients) ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:abnormal fat accumulation below the triceps (in some patients) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:abnormal irregular myofibrillar network ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:abnormal irregular myofibrillar network | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:abnormal mitochondria with loss of cristae ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:abnormal mitochondria with loss of cristae | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:abnormal mitochondria with paracrystalline inclusions seen on muscle biopsy ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:abnormal mitochondria with paracrystalline inclusions seen on muscle biopsy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:abnormal mitochondrial proliferation ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:abnormal mitochondrial proliferation | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:abnormalities in myofibril organization ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:abnormalities in myofibril organization | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:absence of spontaneous activity at birth (severe form) ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:absence of spontaneous activity at birth (severe form) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:accumulation of abnormal mitochondria ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:accumulation of abnormal mitochondria | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:age of onset ranges from 1 to 47 years ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:age of onset ranges from 1 to 47 years | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:alimentary edema ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:alimentary edema | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:all cases sporadic (18 males, 7 females) ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:all cases sporadic (18 males, 7 females) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:allelic disorder to early-onset sarcoidosis (609464) ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:allelic disorder to early-onset sarcoidosis (609464) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:amyotrophy, neurogenic ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:amyotrophy, neurogenic | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:ankle reflex absent ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:ankle reflex absent | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:approximately 40% of cases are inherited or new germline mutations ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:approximately 40% of cases are inherited or new germline mutations | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:atrophy of anterior compartment tibial muscles ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:atrophy of anterior compartment tibial muscles | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:attacks precipitated by potassium ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:attacks precipitated by potassium | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:attacks precipitated by rest after exercise ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:attacks precipitated by rest after exercise | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:autophagic vacuoles with multilamellar structures seen on electron microscopy ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:autophagic vacuoles with multilamellar structures seen on electron microscopy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:autosomal recessive form (277720) has also been described ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:autosomal recessive form (277720) has also been described | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:axial weakness ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:axial weakness | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:based on report of 2 individuals (last curated november 2013) ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:based on report of 2 individuals (last curated november 2013) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:biceps aplasia ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:biceps aplasia | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:biopsy shows myopathy without vacuoles ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:biopsy shows myopathy without vacuoles | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:calf hypertrophy (less common) ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:calf hypertrophy (less common) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:caused by inheritance of the mutation on the paternal allele (imprinting) ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:caused by inheritance of the mutation on the paternal allele (imprinting) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:centralized myonuclei ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:centralized myonuclei | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:changes in sarcoplasmic reticulum and t-tubules ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:changes in sarcoplasmic reticulum and t-tubules | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:classic severe form shows onset at 2 to 3 months of age ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:classic severe form shows onset at 2 to 3 months of age | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:clinical and biochemical abnormalities disappear with age ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:clinical and biochemical abnormalities disappear with age | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:deafness tends to occur before other neurologic signs, except in patients with very early onset ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:deafness tends to occur before other neurologic signs, except in patients with very early onset | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:death in utero or in early infancy is common ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:death in utero or in early infancy is common | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:decreased activities of mitochondrial-encoded respiratory chain complexes ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:decreased activities of mitochondrial-encoded respiratory chain complexes | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:decreased activity of cytochrome c oxidase in most cases seen on muscle biopsy ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:decreased activity of cytochrome c oxidase in most cases seen on muscle biopsy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:decreased atp production ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:decreased atp production | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:decreased muscle mass (especially in lower limbs) ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:decreased muscle mass (especially in lower limbs) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:decreased muscle mass, especially distally ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:decreased muscle mass, especially distally | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:decreased muscle mitochondrial aconitase ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:decreased muscle mitochondrial aconitase | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:decreased postsynaptic length ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:decreased postsynaptic length | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:decrement of the compound muscle action potential on repetitive stimulation ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:decrement of the compound muscle action potential on repetitive stimulation | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:degrading mitochondria ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:degrading mitochondria | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:deposits may recur in graft after corneal transplantation ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:deposits may recur in graft after corneal transplantation | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:distal limb muscle weakness due to peripheral neuropathy (lower limbs are more affected than upper limbs) ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:distal limb muscle weakness due to peripheral neuropathy (lower limbs are more affected than upper limbs) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:distal limb muscle weakness occurs later ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:distal limb muscle weakness occurs later | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:distal muscle weakness, affecting the lower limbs ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:distal muscle weakness, affecting the lower limbs | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:distal muscle weakness, lower limbs more severely affected than upper limbs ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:distal muscle weakness, lower limbs more severely affected than upper limbs | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:distal muscle weakness, predominantly affecting the lower limbs ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:distal muscle weakness, predominantly affecting the lower limbs | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:dystrophic changes seen on muscle biopsy ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:dystrophic changes seen on muscle biopsy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:dystrophic features ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:dystrophic features | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:dystrophic features seen on muscle biopsy ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:dystrophic features seen on muscle biopsy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:early death in males ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:early death in males | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:early onset (9-48 years, but reported up to 68 years) ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:early onset (9-48 years, but reported up to 68 years) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:electromyography may be normal in infancy, but shows myopathic pattern in adolescence and adulthood ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:electromyography may be normal in infancy, but shows myopathic pattern in adolescence and adulthood | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:electromyography shows myotonic discharges ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:electromyography shows myotonic discharges | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:evidence of lymphatic rerouting ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:evidence of lymphatic rerouting | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:evidence of systemic iron overload seen in 1 family ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:evidence of systemic iron overload seen in 1 family | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:extensive fatty infiltration on biopsy ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:extensive fatty infiltration on biopsy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:facial dysmorphic features are mild ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:facial dysmorphic features are mild | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:facial muscle weakness and atrophy, progressive ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:facial muscle weakness and atrophy, progressive | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:facial palsy often transient in infancy ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:facial palsy often transient in infancy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:fasciculations (in some patients) ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:fasciculations (in some patients) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:fatty infiltration of affected muscles ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:fatty infiltration of affected muscles | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:favorable response to ephedrine treatment ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:favorable response to ephedrine treatment | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:feet are unaffected in some patients ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:feet are unaffected in some patients | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:fiber size variation seen on muscle biopsy ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:fiber size variation seen on muscle biopsy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:filamentous inclusions in muscle fibers ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:filamentous inclusions in muscle fibers | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:focal loss of cross striations seen on muscle biopsy ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:focal loss of cross striations seen on muscle biopsy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:fracture frequency decreased post puberty ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:fracture frequency decreased post puberty | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:fractures and dental caries and premature secondary tooth loss occur in adulthood ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:fractures and dental caries and premature secondary tooth loss occur in adulthood | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:gait, drop foot ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:gait, drop foot | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:gastric suction pump, home model, portable or stationary, electric ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:gastric suction pump, home model, portable or stationary, electric | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:generalized muscular appearance from birth ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:generalized muscular appearance from birth | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:genetic heterogeneity (may be caused by mutation in nuclear-encoded or mitochondrial-encoded genes) ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:genetic heterogeneity (may be caused by mutation in nuclear-encoded or mitochondrial-encoded genes) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:gluteal hypoplasia ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:gluteal hypoplasia | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:glycogenosis of skeletal muscle, mild (in some patients) ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:glycogenosis of skeletal muscle, mild (in some patients) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:heterozygotes may exhibit syndromic manifestations ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:heterozygotes may exhibit syndromic manifestations | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:high frequencies affected before low frequencies ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:high frequencies affected before low frequencies | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:high frequency hearing loss progresses to include all frequencies ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:high frequency hearing loss progresses to include all frequencies | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:highly variable expression ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:highly variable expression | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:highly variable organ involvement and severity ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:highly variable organ involvement and severity | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:hip abductor weakness and atrophy ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:hip abductor weakness and atrophy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:hip joint replacement often necessary ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:hip joint replacement often necessary | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:homozygotes have more severe disease with earlier onset of thrombosis ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:homozygotes have more severe disease with earlier onset of thrombosis | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:humeroperoneal weakness and atrophy ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:humeroperoneal weakness and atrophy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:hyperkeratosis often present at birth but may appear later ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:hyperkeratosis often present at birth but may appear later | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:hypoactive gag reflex ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:hypoactive gag reflex | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:hypoglycosylation of alpha-dystroglycan ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:hypoglycosylation of alpha-dystroglycan | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:hypoplasia of muscle ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:hypoplasia of muscle | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:hyporeflexia of lower limbs ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:hyporeflexia of lower limbs | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:hypotonia (families a and b) ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:hypotonia (families a and b) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:hypotonia, generalized (in some patients) ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:hypotonia, generalized (in some patients) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:hypotonia, mild (1 patient) ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:hypotonia, mild (1 patient) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:hypotonia, neonatal and later ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:hypotonia, neonatal and later | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:hypotonia, neonatal, severe (hcs) ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:hypotonia, neonatal, severe (hcs) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:hypotonia, profound ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:hypotonia, profound | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:immunologic defects are variable ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:immunologic defects are variable | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:incidence of 1 in 1.5 million births ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:incidence of 1 in 1.5 million births | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:incidence of 1 in 250,000 births ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:incidence of 1 in 250,000 births | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:incidence of 1 in 3,500 boys ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:incidence of 1 in 3,500 boys | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:incidence of 1 in 57,000 ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:incidence of 1 in 57,000 | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:inclusion body myopathy ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:inclusion body myopathy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:incomplete penetrance with 45 to 51 repeats ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:incomplete penetrance with 45 to 51 repeats | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:increased fatty infiltration ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:increased fatty infiltration | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:increased fiber size variability ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:increased fiber size variability | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:increased glycogen in muscle (but to a lesser extent than in the heart) ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:increased glycogen in muscle (but to a lesser extent than in the heart) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:increased intermyofibrillar and subsarcolemmal glycogen ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:increased intermyofibrillar and subsarcolemmal glycogen | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:increased mitochondria with abnormal cristae ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:increased mitochondria with abnormal cristae | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:increased numbers of abnormally-shaped mitochondria in subsarcolemmal areas ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:increased numbers of abnormally-shaped mitochondria in subsarcolemmal areas | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:infants are stillborn or die shortly after birth ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:infants are stillborn or die shortly after birth | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:intellectual regression and loss of speech precede the onset of motor retardation by more than 10 years ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:intellectual regression and loss of speech precede the onset of motor retardation by more than 10 years | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:interfibrillar and subsarcolemmal vacuoles ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:interfibrillar and subsarcolemmal vacuoles | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:interosseus muscles involved ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:interosseus muscles involved | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:intracellular accumulation of material can occur in neuronal and nonneuronal cells ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:intracellular accumulation of material can occur in neuronal and nonneuronal cells | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:intrafamilial phenotypic variation may occur ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:intrafamilial phenotypic variation may occur | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:intrafamilial variability in number of missing teeth ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:intrafamilial variability in number of missing teeth | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:involves upper and lower proximal muscles ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:involves upper and lower proximal muscles | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:jitter ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:jitter | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:lack of adipose tissue on limbs and femorogluteal regions ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:lack of adipose tissue on limbs and femorogluteal regions | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:lesions apparent at birth ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:lesions apparent at birth | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:lipohypoplasia, regional ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:lipohypoplasia, regional | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:loss of ambulation between third and sixth decade ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:loss of ambulation between third and sixth decade | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:lymphedema (primarily in lower limbs, but also arms in some patients) ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:lymphedema (primarily in lower limbs, but also arms in some patients) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:lymphedema of the extremities ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:lymphedema of the extremities | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:majority of cases are sporadic, often in tall, thin men ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:majority of cases are sporadic, often in tall, thin men | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:majority of cases sporadic ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:majority of cases sporadic | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:majority of children die between 6 months and 5 yrs ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:majority of children die between 6 months and 5 yrs | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:male patients have more severe disease than female patients ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:male patients have more severe disease than female patients | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:males carry mutations in the somatic mosaic state ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:males carry mutations in the somatic mosaic state | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:males more affected than females (2 to 2.5:1) ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:males more affected than females (2 to 2.5:1) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:many adults with typical form remain ambulatory ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:many adults with typical form remain ambulatory | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:may be due to imprinting defect ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:may be due to imprinting defect | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:may fade with age ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:may fade with age | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:may not be clinically manifest until middle life ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:may not be clinically manifest until middle life | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:may regress ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:may regress | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:mean age at diagnosis 8.8 years (range 0.2-23 years) ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:mean age at diagnosis 8.8 years (range 0.2-23 years) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:mean age at onset 32 years ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:mean age at onset 32 years | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:mean age at onset 33 years (range 20-60) ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:mean age at onset 33 years (range 20-60) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:mean age at termination 3 to 4 years ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:mean age at termination 3 to 4 years | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:mean age of onset 31 years (range 5-60) ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:mean age of onset 31 years (range 5-60) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:mean age of onset in third decade ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:mean age of onset in third decade | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:median age at onset of puberty is 5.75 years in affected girls and 8.1 years in affected boys ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:median age at onset of puberty is 5.75 years in affected girls and 8.1 years in affected boys | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:median age of onset of nail dystrophy - 7 years (range 1-6 years) ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:median age of onset of nail dystrophy - 7 years (range 1-6 years) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:midline defects ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:midline defects | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:mild muscle atrophy in forearm muscles ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:mild muscle atrophy in forearm muscles | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:mild proximal muscle weakness (<10% of patients) ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:mild proximal muscle weakness (<10% of patients) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:mild weakness of the small hand muscles ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:mild weakness of the small hand muscles | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:minicores (in some) ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:minicores (in some) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:miscellaneous ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:miscellaneous | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:mitochondrial myopathy ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:mitochondrial myopathy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:muscle atrophy in the limbs ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:muscle atrophy in the limbs | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:muscle biopsy shows atrophy ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:muscle biopsy shows atrophy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:muscle biopsy shows decreased activity of cytochrome c oxidase ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:muscle biopsy shows decreased activity of cytochrome c oxidase | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:muscle biopsy shows fiber type variation (in some patients) ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:muscle biopsy shows fiber type variation (in some patients) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:muscle biopsy shows grouped atrophy ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:muscle biopsy shows grouped atrophy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:muscle biopsy shows loss of myofibrillar organization ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:muscle biopsy shows loss of myofibrillar organization | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:muscle biopsy shows mitochondrial aggregates ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:muscle biopsy shows mitochondrial aggregates | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:muscle biopsy shows myofiber degeneration ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:muscle biopsy shows myofiber degeneration | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:muscle biopsy shows necrotic and atrophic fibers with centralized nuclei ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:muscle biopsy shows necrotic and atrophic fibers with centralized nuclei | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:muscle biopsy shows small fibers with central nuclei and accumulation of mitochondria in the central part of the fibers ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:muscle biopsy shows small fibers with central nuclei and accumulation of mitochondria in the central part of the fibers | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:muscle hypertrophy of the lower extremities ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:muscle hypertrophy of the lower extremities | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:muscle strength and bulk is preserved ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:muscle strength and bulk is preserved | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:muscle wasting, severe, primarily in the legs ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:muscle wasting, severe, primarily in the legs | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:muscle weakness and atrophy, progressive ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:muscle weakness and atrophy, progressive | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:muscle weakness associated with fasting or infection ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:muscle weakness associated with fasting or infection | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:muscle weakness, proximal, distal, and axial, severe ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:muscle weakness, proximal, distal, and axial, severe | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:muscle weakness, proximal, pelvic girdle (in severe cases) ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:muscle weakness, proximal, pelvic girdle (in severe cases) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:muscular rigidity ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:muscular rigidity | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:myopathic changes on pathology ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:myopathic changes on pathology | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:myopathic changes seen muscle biopsy ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:myopathic changes seen muscle biopsy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:myopathy in approximately 45% of patients ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:myopathy in approximately 45% of patients | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:myosin storage myopathy (in some patients) ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:myosin storage myopathy (in some patients) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:neck flexor weakness ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:neck flexor weakness | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:necrotic and regenerating muscle fibers ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:necrotic and regenerating muscle fibers | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:nemaline bodies ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:nemaline bodies | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:nemaline bodies are rarely intranuclear ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:nemaline bodies are rarely intranuclear | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:nemaline bodies are usually subsarcolemmal or sarcoplasmic ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:nemaline bodies are usually subsarcolemmal or sarcoplasmic | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:nemaline rod formation ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:nemaline rod formation | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:neonatal hypertonias ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:neonatal hypertonias | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:nine patients have been reported (last curated july 2015) ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:nine patients have been reported (last curated july 2015) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:no consistent dysmorphic facial phenotype ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:no consistent dysmorphic facial phenotype | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:no dystrophic changes ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:no dystrophic changes | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:no ragged-red fibers ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:no ragged-red fibers | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:nonspecific myopathic changes seen on biopsy ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:nonspecific myopathic changes seen on biopsy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:nonspecific myopathy seen on biopsy ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:nonspecific myopathy seen on biopsy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:onset in first decade after normal early development ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:onset in first decade after normal early development | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:onset of night blindness varies among patients from early childhood to mid thirties ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:onset of night blindness varies among patients from early childhood to mid thirties | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:onset of overgrowth in the first year of life (in most cases) ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:onset of overgrowth in the first year of life (in most cases) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:opportunistic infection ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:opportunistic infection | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:precipitated by fatigue or alcohol ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:precipitated by fatigue or alcohol | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:precipitated by fever ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:precipitated by fever | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:predominance of oxidative fibers ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:predominance of oxidative fibers | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:predominantly lower limb lymphedema ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:predominantly lower limb lymphedema | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:presence of severe midfacial and limb defects and birth length less than 37cm associated with stillborn or early infant death ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:presence of severe midfacial and limb defects and birth length less than 37cm associated with stillborn or early infant death | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:primarily affects lower limbs ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:primarily affects lower limbs | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:progressive muscle weakness ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:progressive muscle weakness | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:prominent involvement of the quadriceps femoris muscles ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:prominent involvement of the quadriceps femoris muscles | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:prominent musculature ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:prominent musculature | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:proximal muscle weakness, less severe ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:proximal muscle weakness, less severe | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:proximal muscle weakness, mild ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:proximal muscle weakness, mild | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:pseudoathletic appearance with prominent muscles before disease onset ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:pseudoathletic appearance with prominent muscles before disease onset | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:ragged red fibers, mainly in type i fibers seen on skeletal muscle biopsy ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:ragged red fibers, mainly in type i fibers seen on skeletal muscle biopsy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:ragged-red fibers on muscle biopsy ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:ragged-red fibers on muscle biopsy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:rectus abdominis muscle separation ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:rectus abdominis muscle separation | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:repetitive compound muscle action potentials (cmap) in response to single stimulus ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:repetitive compound muscle action potentials (cmap) in response to single stimulus | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:rhabdomyolysis ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:rhabdomyolysis | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:rhabdomyolysis, episodic and recurrent ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:rhabdomyolysis, episodic and recurrent | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:scapuloperoneal weakness ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:scapuloperoneal weakness | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:secondary hypertrophy ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:secondary hypertrophy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:skeletal muscle shows decreased sarcoglycan proteins ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:skeletal muscle shows decreased sarcoglycan proteins | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:slow motor responses to sudden events (i.e., falling) ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:slow motor responses to sudden events (i.e., falling) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:slowly-progressive muscle wasting and weakness with humeroperoneal and scapuloperoneal distribution ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:slowly-progressive muscle wasting and weakness with humeroperoneal and scapuloperoneal distribution | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:small and incompletely fused muscle fibers seen on biopsy ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:small and incompletely fused muscle fibers seen on biopsy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:small, angulated muscle fibers seen on muscle biopsy ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:small, angulated muscle fibers seen on muscle biopsy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:soft tissue vascular malformations ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:soft tissue vascular malformations | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:some patients may show normal early development before seizure onset ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:some patients may show normal early development before seizure onset | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:some patients never gain ambulation or become wheelchair-bound ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:some patients never gain ambulation or become wheelchair-bound | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:subcutaneous edema ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:subcutaneous edema | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:subsarcolemmal accumulation of normal mitochondria (in some patients) ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:subsarcolemmal accumulation of normal mitochondria (in some patients) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:subsarcolemmal accumulations of abnormally shaped mitochondria seen with electronmicroscopy ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:subsarcolemmal accumulations of abnormally shaped mitochondria seen with electronmicroscopy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:subsarcolemmal mitochondrial aggregates ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:subsarcolemmal mitochondrial aggregates | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:subset of patients have leigh syndrome (256000) ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:subset of patients have leigh syndrome (256000) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:sudden death within first days of life ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:sudden death within first days of life | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:swelling of the extremities, episodic ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:swelling of the extremities, episodic | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:swelling of the hands and feet, episodic ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:swelling of the hands and feet, episodic | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:symmetrical, proximal limb muscle atrophy (pelvic, scapular, trunk muscles) ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:symmetrical, proximal limb muscle atrophy (pelvic, scapular, trunk muscles) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:three unrelated patients have been reported (last curated july 2015) ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:three unrelated patients have been reported (last curated july 2015) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:treatment with sulfonylurea can be effective ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:treatment with sulfonylurea can be effective | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:two families with confirmed adra2b mutations have been reported (last curated june 2015) ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:two families with confirmed adra2b mutations have been reported (last curated june 2015) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:two unrelated consanguineous families (saudi arabian and israeli palestinian) have been reported (last curated february 2014) ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:two unrelated consanguineous families (saudi arabian and israeli palestinian) have been reported (last curated february 2014) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:two unrelated families have been reported (last curated february 2016) ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:type 1 fibers are at least 12% smaller than type 2 fibers ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:type 1 fibers are at least 12% smaller than type 2 fibers | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:type 1 muscle fibers with clearly demarcated central 'core' regions of sarcomeric disorganization, lack of oxidative activity, and absent mitochondria ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:type 1 muscle fibers with clearly demarcated central 'core' regions of sarcomeric disorganization, lack of oxidative activity, and absent mitochondria | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:type 2 fiber predominance ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:type 2 fiber predominance | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:upper limb involvement occurs later or not at all ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:upper limb involvement occurs later or not at all | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:vacuoles are autophagocytic ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:vacuoles are autophagocytic | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:vacuoles containing neutral lipids seen on muscle biopsy ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:vacuoles containing neutral lipids seen on muscle biopsy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:vacuoles in the myofiber cytoplasm ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:vacuoles in the myofiber cytoplasm | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:variable features present ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:variable features present | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:weakness of all intrinsic hand muscles (later) ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=en:weakness of all intrinsic hand muscles (later) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- hypoplasie glutéale ---
r_associated #0: 35 -->
en:attacks may present during or after sleep
n1=hypoplasie glutéale | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=35
- en:a subset of patients have aggravation on cold exposure ('cold paresis') ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:a subset of patients have aggravation on cold exposure ('cold paresis') | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:abnormal glycosylation of alpha-dystroglycan seen on muscle biopsy ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:abnormal glycosylation of alpha-dystroglycan seen on muscle biopsy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:absence of immunostaining for alpha- and beta-dystroglycan (family b) ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:absence of immunostaining for alpha- and beta-dystroglycan (family b) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:accumulated lipid droplets seen on muscle biopsy ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:accumulated lipid droplets seen on muscle biopsy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:acquire ability to walk and jump in childhood, but motor regression occurs later ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:acquire ability to walk and jump in childhood, but motor regression occurs later | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:acute rhabdomyolysis ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:acute rhabdomyolysis | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:adrenal insufficiency usually develops later (first decade) ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:adrenal insufficiency usually develops later (first decade) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:adult onset ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:adult onset | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:allelic disorder to potassium-aggravated myotonia (608390) ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:allelic disorder to potassium-aggravated myotonia (608390) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:allelic to diastrophic dysplasia (222600), achondrogenesis, type 1b (600972), and multiple epiphyseal dysplasia, type 4 (226900) ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:allelic to diastrophic dysplasia (222600), achondrogenesis, type 1b (600972), and multiple epiphyseal dysplasia, type 4 (226900) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:anemia is responsive to corticosteroid treatment ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:anemia is responsive to corticosteroid treatment | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:areflexia due to muscle weakness ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:areflexia due to muscle weakness | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:associated with hemodialysis ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:associated with hemodialysis | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:associated with iron deficiency anemia ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:associated with iron deficiency anemia | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:atrophy of neck muscles may occur later ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:atrophy of neck muscles may occur later | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:atrophy of type 1 and type 2 fibers ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:atrophy of type 1 and type 2 fibers | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:attacks more common in women ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:attacks more common in women | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:average onset of seizures 6 months (range 3-12) ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:average onset of seizures 6 months (range 3-12) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:based on one large dutch family (last curated august 2015) ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:based on one large dutch family (last curated august 2015) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:bilateral foot drop ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:bilateral foot drop | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:blistering may worsen during the summer ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:blistering may worsen during the summer | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:carrier females show no phenotypic abnormalities, but may have learning difficulties ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:carrier females show no phenotypic abnormalities, but may have learning difficulties | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:chelation therapy can result in clinical improvement ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:chelation therapy can result in clinical improvement | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:chronic weakness ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:chronic weakness | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:color vision defects may not be part of the phenotype ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:color vision defects may not be part of the phenotype | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:congophilic staining ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:congophilic staining | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:cores with lack of oxidative activity and mitochondrial depletion may also be found and extend along length of fiber ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:cores with lack of oxidative activity and mitochondrial depletion may also be found and extend along length of fiber | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:death in majority of infants soon after birth ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:death in majority of infants soon after birth | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:death in third or fourth decades, usually due to respiratory infection ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:death in third or fourth decades, usually due to respiratory infection | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:death secondary to respiratory infection or failure before age 2 years ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:death secondary to respiratory infection or failure before age 2 years | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:death usually in first year of life ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:death usually in first year of life | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:decreased activity of cytochrome c oxidase seen on muscle biopsy ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:decreased activity of cytochrome c oxidase seen on muscle biopsy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:decreased caveolin-3 expression seen on muscle biopsy ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:decreased caveolin-3 expression seen on muscle biopsy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:decreased endplate potential and amplitudes ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:decreased endplate potential and amplitudes | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:decreased exercise tolerance ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:decreased exercise tolerance | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:decreased immunostaining for alpha-sarcoglycan ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:decreased immunostaining for alpha-sarcoglycan | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:decreased mitochondria ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:decreased mitochondria | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:decreased shank muscle mass ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:decreased shank muscle mass | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:decreased thiamine pyrophosphate ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:decreased thiamine pyrophosphate | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:difficulty walking and climbing stairs (patient a) ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:difficulty walking and climbing stairs (patient a) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:difficulty walking, running, climbing stairs ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:difficulty walking, running, climbing stairs | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:disease shows slow progression ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:disease shows slow progression | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:disorganization of the neuromuscular junction ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:disorganization of the neuromuscular junction | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:disorganized myofilaments seen on muscle biopsy ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:disorganized myofilaments seen on muscle biopsy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:distal limb atrophy (upper and lower) ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:distal limb atrophy (upper and lower) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:distal lower limb muscle weakness and atrophy ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:distal lower limb muscle weakness and atrophy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:distal muscle weakness and atrophy may occur, upper and lower limbs affected ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:distal muscle weakness and atrophy may occur, upper and lower limbs affected | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:distal muscle weakness due to neuropathy ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:distal muscle weakness due to neuropathy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:distal muscular atrophy due to peripheral neuropathy ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:distal muscular atrophy due to peripheral neuropathy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:earlier onset is associated with a more severe disorder ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:earlier onset is associated with a more severe disorder | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:edema at birth ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:edema at birth | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:edema, subcutaneous, generalized ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:edema, subcutaneous, generalized | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:edematous hands and feet (1 patient) ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:edematous hands and feet (1 patient) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:episodes may be triggered by exercise, emotional stress, head trauma, angiography, lack of sleep, heat ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:episodes may be triggered by exercise, emotional stress, head trauma, angiography, lack of sleep, heat | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:episodes occur 30 minutes to 3 hours after exposure to cold ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:episodes occur 30 minutes to 3 hours after exposure to cold | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:excessive skin picking of sores ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:excessive skin picking of sores | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:exercise-induced muscle cramps ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:exercise-induced muscle cramps | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:extrapyramidal signs show a favorable response to levodopa ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:extrapyramidal signs show a favorable response to levodopa | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:facial muscle atrophy of involved side ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:facial muscle atrophy of involved side | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:familial occurrence is rare ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:familial occurrence is rare | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:fat pad anterior to malleolus ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:fat pad anterior to malleolus | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:fatal without lung transplant ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:fatal without lung transplant | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:female carriers may be mildly affected ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:female carriers may be mildly affected | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:fiber-type variability ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:fiber-type variability | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:fragmented mitochondrial network ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:fragmented mitochondrial network | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:generalized muscle contractions, episodic ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:generalized muscle contractions, episodic | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:generalized muscle hypertrophy ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:generalized muscle hypertrophy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:hearing loss occurs in late childhood ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:hearing loss occurs in late childhood | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:hepatic failure develops in first months of life ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:hepatic failure develops in first months of life | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:hepatomegaly improves with age and disappears around puberty ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:hepatomegaly improves with age and disappears around puberty | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:highly variable clinical phenotype ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:highly variable clinical phenotype | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:highly variable frequency and duration of episodes ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:highly variable frequency and duration of episodes | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:highly variable frequency and severity of attacks ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:highly variable frequency and severity of attacks | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:hip flexor weakness ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:hip flexor weakness | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:hydrops fetalis is associated with death in utero (90%) or within 2 days of birth ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:hydrops fetalis is associated with death in utero (90%) or within 2 days of birth | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:hypoplasia of supraspinatus muscle ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:hypoplasia of supraspinatus muscle | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:in general, men have more severe disease than women ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:in general, men have more severe disease than women | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:incidence of 1 in 100,000 births ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:incidence of 1 in 100,000 births | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:incidence of 1 in 100,000 to 125,000 at birth ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:incidence of 1 in 100,000 to 125,000 at birth | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:increased adipose fibrosis ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:increased adipose fibrosis | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:increased connective tissue ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:increased connective tissue | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:increased internal nuclei (in some patients) ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:increased internal nuclei (in some patients) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:increased muscle glycogen content ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:increased muscle glycogen content | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:independent walking may not be achieved ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:independent walking may not be achieved | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:infantile onset ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:infantile onset | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:infantile onset with hepatic involvement ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:infantile onset with hepatic involvement | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:initial development may appear normal ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:initial development may appear normal | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:insidious onset ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:insidious onset | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:internal nuclei (in some patients) ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:internal nuclei (in some patients) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:internal nuclei seen on biopsy (in some patients) ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:internal nuclei seen on biopsy (in some patients) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:intrafamilial variability in degree of hypotrichosis ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:intrafamilial variability in degree of hypotrichosis | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:intrasarcoplasmic dense granulofilamentous aggregates that are immunoreactive with desmin ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:intrasarcoplasmic dense granulofilamentous aggregates that are immunoreactive with desmin | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:juvenile rigid early-onset form more often paternally inherited ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:juvenile rigid early-onset form more often paternally inherited | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:lack of antigravity movements (patient b) ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:lack of antigravity movements (patient b) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:large hypertrophied fibers ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:large hypertrophied fibers | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:later onset has been reported ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:later onset has been reported | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:later onset may occur ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:later onset may occur | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:leg cramps may occur with exercise ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:leg cramps may occur with exercise | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:levator palpebrae superioris atrophy ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:levator palpebrae superioris atrophy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:lifetime risk of ovarian cancer in mutation carriers is 10 to 20% ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:lifetime risk of ovarian cancer in mutation carriers is 10 to 20% | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:limb muscular atrophy ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:limb muscular atrophy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:limb-girdle muscle weakness, proximal, upper greater than lower ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:limb-girdle muscle weakness, proximal, upper greater than lower | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:limb-girdle myopathy ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:limb-girdle myopathy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:loss of ability to walk in early childhood ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:loss of ability to walk in early childhood | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:loss of independent ambulation (in 2 of 3 patients) ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:loss of independent ambulation (in 2 of 3 patients) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:lower and upper limbs affected ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:lower and upper limbs affected | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:majority are isolated cases ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:majority are isolated cases | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:many cases due to de novo mutation ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:many cases due to de novo mutation | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:marked lack of adipose tissue ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:marked lack of adipose tissue | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:marked variability of fiber size ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:marked variability of fiber size | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:marked variation in severity - severe early onset disease (neonatal period) and milder juvenile disease (onset 8-13 years) ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:marked variation in severity - severe early onset disease (neonatal period) and milder juvenile disease (onset 8-13 years) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:mean age at onset of cerebellar ataxia is 52.8 years ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:mean age at onset of cerebellar ataxia is 52.8 years | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:mean age at onset of dementia is 57 years ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:mean age at onset of dementia is 57 years | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:mean age of onset 35-40 years ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:mean age of onset 35-40 years | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:mesomelia becomes more evident with age ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:mesomelia becomes more evident with age | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:mild asymmetric regional disease (e.g. 180380.0029) ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:mild asymmetric regional disease (e.g. 180380.0029) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:mild decrease in mitochondrial respiratory chain activity ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:mild decrease in mitochondrial respiratory chain activity | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:muscle aches, cramps ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:muscle aches, cramps | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:muscle amyotrophy ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:muscle amyotrophy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:muscle biopsy is immunopositive for merosin (156225) ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:muscle biopsy is immunopositive for merosin (156225) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:muscle biopsy shows centralized nuclei ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:muscle biopsy shows centralized nuclei | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:muscle biopsy shows decreased or absent dysferlin staining ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:muscle biopsy shows decreased or absent dysferlin staining | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:muscle biopsy shows groups of small angulated fibers consistent with denervation ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:muscle biopsy shows groups of small angulated fibers consistent with denervation | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:muscle biopsy shows increased subsarcolemmal vacuolar glycogen accumulation ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:muscle biopsy shows increased subsarcolemmal vacuolar glycogen accumulation | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:muscle biopsy shows myodegenerative changes with beta-amyloid and phosphorylated tau deposits ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:muscle biopsy shows myodegenerative changes with beta-amyloid and phosphorylated tau deposits | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:muscle biopsy shows myopathic or dystrophic changes ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:muscle biopsy shows myopathic or dystrophic changes | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:muscle biopsy shows nonspecific myopathic changes without dystrophic or inflammatory changes ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:muscle biopsy shows nonspecific myopathic changes without dystrophic or inflammatory changes | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:muscle biopsy shows small, membrane-bound vacuoles predominantly in type 2 fibers ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:muscle biopsy shows small, membrane-bound vacuoles predominantly in type 2 fibers | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:muscle fiber atrophy, profound (rare) ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:muscle fiber atrophy, profound (rare) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:muscle fibers contain internal nuclei ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:muscle fibers contain internal nuclei | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:muscle mounding ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:muscle mounding | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:muscle paralysis, episodic ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:muscle paralysis, episodic | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:muscle weakness is not a feature ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:muscle weakness is not a feature | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:muscle weakness usually does not occur ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:muscle weakness usually does not occur | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:muscle weakness, distal, restricted to the lower limbs ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:muscle weakness, distal, restricted to the lower limbs | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:muscle weakness, hypokalemia-related ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:muscle weakness, hypokalemia-related | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:muscle weakness, proximal and distal (predominant lower limb involvement) ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:muscle weakness, proximal and distal (predominant lower limb involvement) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:muscle weakness, proximal, upper and lower limbs affected ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:muscle weakness, proximal, upper and lower limbs affected | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:muscle weakness, symmetric, proximal, lower limbs ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:muscle weakness, symmetric, proximal, lower limbs | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:myofibrillar lesions ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:myofibrillar lesions | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:myopathic features seen on emg ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:myopathic features seen on emg | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:myopathy (rare) ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:myopathy (rare) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:myositis (in some patients) ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:myositis (in some patients) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:myotonia ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:myotonia | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:nearly complete absence of mechanical adipose tissue (joints, orbits, palms, soles) ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:nearly complete absence of mechanical adipose tissue (joints, orbits, palms, soles) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:necrosis and degeneration seen on muscle biopsy ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:necrosis and degeneration seen on muscle biopsy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:necrotic process ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:necrotic process | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:nemaline myopathy (in 1 reported male) ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:nemaline myopathy (in 1 reported male) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:no lipodystrophy in face and neck ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:no lipodystrophy in face and neck | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:occurs in a southern maryland tri-racial inbred population known as the brandywine isolate ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:occurs in a southern maryland tri-racial inbred population known as the brandywine isolate | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:osteoglophonic, derived from greek meaning hollowed out ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:osteoglophonic, derived from greek meaning hollowed out | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:painful muscle cramps ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:painful muscle cramps | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:partial lipodystrophy (abnormal distribution of subcutaneous adipose tissue) ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:partial lipodystrophy (abnormal distribution of subcutaneous adipose tissue) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:patients may have distal or proximal muscle weakness, or both ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:patients may have distal or proximal muscle weakness, or both | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:paucity or absence of lymph nodes in the axillae and above the inguinal ligaments seen on scintilymphangiography ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:paucity or absence of lymph nodes in the axillae and above the inguinal ligaments seen on scintilymphangiography | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:percussion-induced muscle mounding (muscle rippling) ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:percussion-induced muscle mounding (muscle rippling) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:peroneal muscle weakness and atrophy due to peripheral neuropathy ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:peroneal muscle weakness and atrophy due to peripheral neuropathy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:pigmentation not always butterfly-shaped ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:pigmentation not always butterfly-shaped | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:polymyositis ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:polymyositis | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:poor head control in infancy ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:poor head control in infancy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:poor musculature ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:poor musculature | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:prelingual onset ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:prelingual onset | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:premature aging syndrome ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:premature aging syndrome | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:progression to wheelchair in fourth decade ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:progression to wheelchair in fourth decade | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:prominent muscular appearance ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:prominent muscular appearance | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:protein aggregates resembling myofibrillar myopathy may be present ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:protein aggregates resembling myofibrillar myopathy may be present | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:proximal muscle weakness ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:proximal muscle weakness | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:quadriceps atrophy ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:quadriceps atrophy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:rare necrotic fibers ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:rare necrotic fibers | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:reduced lower limb subcutaneous fat ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:reduced lower limb subcutaneous fat | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:reduced muscle mass ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:reduced muscle mass | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:rhabdomyolysis (in some patients) ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:rhabdomyolysis (in some patients) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:sarcoplasmic accumulation of electron-dense granulofilamentous material ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:sarcoplasmic accumulation of electron-dense granulofilamentous material | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:scapuloperoneal muscular atrophy due to denervation ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:scapuloperoneal muscular atrophy due to denervation | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:severe muscle wasting and atrophy, primarily in the legs ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:severe muscle wasting and atrophy, primarily in the legs | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:severe muscular hypotonia ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:severe muscular hypotonia | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:six patients have been reported (as of october 2011) ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:six patients have been reported (as of october 2011) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:slowly progressive limb-girdle myopathy ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:slowly progressive limb-girdle myopathy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:small rounded fibers ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:small rounded fibers | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:soft tissue or tendinous calcinosis may occur ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:soft tissue or tendinous calcinosis may occur | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:some patients have resolution of symptoms in first year of life ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:some patients have resolution of symptoms in first year of life | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:some patients may present with myopathic features ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:some patients may present with myopathic features | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:sparing of anterior tibialis muscle ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:sparing of anterior tibialis muscle | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:stiffness (uncommon) ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:stiffness (uncommon) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:subsarcolemmal accumulation of enlarged mitochondria with variably sized rectangular or elongated rhomboidal paracrystalline inclusions ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:subsarcolemmal accumulation of enlarged mitochondria with variably sized rectangular or elongated rhomboidal paracrystalline inclusions | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:subsarcolemmal accumulations of abnormally shaped mitochondria (on electron microscopy) ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:subsarcolemmal accumulations of abnormally shaped mitochondria (on electron microscopy) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:tenderness of lower extremities ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:tenderness of lower extremities | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:transient neonatal hypotonia (less common) ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:transient neonatal hypotonia (less common) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:tubulofilamentous nuclear or cytoplasmic inclusions on biopsy ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:tubulofilamentous nuclear or cytoplasmic inclusions on biopsy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:two sibs each from unrelated saudi arabian families reported (last curated may 2014) ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:two sibs each from unrelated saudi arabian families reported (last curated may 2014) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:two sibs from a consanguineous syrian family have been reported (last curated july 2015) ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:two sibs from a consanguineous syrian family have been reported (last curated july 2015) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:usually symptomatic in adulthood with history of weakness since infancy or childhood ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:usually symptomatic in adulthood with history of weakness since infancy or childhood | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:variable fiber size ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:variable fiber size | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:variation in skeletal muscle fiber diameter ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:variation in skeletal muscle fiber diameter | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:weakness of ankle plantar flexion ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:weakness of ankle plantar flexion | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:weakness of long finger extensor muscles (occurs later) ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:weakness of long finger extensor muscles (occurs later) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:wide variation in fiber size ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:wide variation in fiber size | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- en:z-line streaming see on electron microscopy ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=en:z-line streaming see on electron microscopy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- myopathie myofibrillaire ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=myopathie myofibrillaire | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- polymyosite ---
r_associated #0: 34 -->
en:attacks may present during or after sleep
n1=polymyosite | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=34
- Maladie congénitale ---
r_associated #0: 33 -->
en:attacks may present during or after sleep
n1=Maladie congénitale | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=33
- en:abdominal muscle hypoplasia ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:abdominal muscle hypoplasia | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:abnormal size and shape of synaptic endplates ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:abnormal size and shape of synaptic endplates | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:abnormal subcutaneous fat tissue distribution ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:abnormal subcutaneous fat tissue distribution | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:about 20% of female mutation carriers may show mild muscle weakness ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:about 20% of female mutation carriers may show mild muscle weakness | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:adult onset from second to seventh decade ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:adult onset from second to seventh decade | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:approximately one-third of patients eventually lose outer hair cell function and have profound sensorineural deafness (after 10 to 20 years) ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:approximately one-third of patients eventually lose outer hair cell function and have profound sensorineural deafness (after 10 to 20 years) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:ascites (in some patients) ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:ascites (in some patients) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:atrophia ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:atrophia | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:atrophic muscle fibers ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:atrophic muscle fibers | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:atrophy of shins ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:atrophy of shins | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:attacks relieved by potassium administration ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:attacks relieved by potassium administration | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:benign soft tissue developmental anomalies ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:benign soft tissue developmental anomalies | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:biopsy shows dystrophic changes ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:biopsy shows dystrophic changes | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:boys are more often affected than girls (3:2) ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:boys are more often affected than girls (3:2) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:calf pseudohypertrophy rare ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:calf pseudohypertrophy rare | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:cardiomyopathy is not a feature ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:cardiomyopathy is not a feature | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:centralized nuclei, rare ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:centralized nuclei, rare | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:child often can sit unsupported but never ambulates ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:child often can sit unsupported but never ambulates | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:clinical spectrum in males ranges from lethal neonatal onset to milder forms with first recognized episode in late childhood or even in adulthood ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:clinical spectrum in males ranges from lethal neonatal onset to milder forms with first recognized episode in late childhood or even in adulthood | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:cone-shaped epiphyses appear in early childhood and disappear with premature fusion of growth plate before puberty ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:cone-shaped epiphyses appear in early childhood and disappear with premature fusion of growth plate before puberty | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:congenital, nonprogressive myopathy ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:congenital, nonprogressive myopathy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:cores extend along length of muscle fiber ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:cores extend along length of muscle fiber | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:cores or minicores ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:cores or minicores | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:death in childhood may occur due to end-stage renal disease ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:death in childhood may occur due to end-stage renal disease | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:death secondary to renal failure, cardiac or cerebrovascular disease ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:death secondary to renal failure, cardiac or cerebrovascular disease | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:decreased ability to run ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:decreased ability to run | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:decreased caveolae in muscle tissue ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:decreased caveolae in muscle tissue | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:decreased cytochrome c oxidase activity ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:decreased cytochrome c oxidase activity | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:decreased lipoic acid ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:decreased lipoic acid | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:decreased mitochondrial respiratory activities (in some patients) ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:decreased mitochondrial respiratory activities (in some patients) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:decreased numbers of acetylcholine receptors (achr) in the postsynaptic membrane (less than 50% of normal) ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:decreased numbers of acetylcholine receptors (achr) in the postsynaptic membrane (less than 50% of normal) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:decreased numbers of postsynaptic nerve terminals at the neuromuscular junction ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:decreased numbers of postsynaptic nerve terminals at the neuromuscular junction | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:decreased postsynaptic folding at the neuromuscular junction ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:decreased postsynaptic folding at the neuromuscular junction | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:decremental cmap response to repetitive nerve stimulation ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:decremental cmap response to repetitive nerve stimulation | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:decremental cmap response to repetitive nerve stimulation seen on emg ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:decremental cmap response to repetitive nerve stimulation seen on emg | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:defects in lipoate-containing mitochondrial enzyme complexes ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:defects in lipoate-containing mitochondrial enzyme complexes | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:degenerating junctional folds ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:degenerating junctional folds | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:degenerative changes with increased connective tissue ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:degenerative changes with increased connective tissue | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:dependent edema after excess fat has been present for several years ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:dependent edema after excess fat has been present for several years | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:dermal or subcutaneous infiltrate of spindle-shaped cells arranged in a whorled pattern seen on histology ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:dermal or subcutaneous infiltrate of spindle-shaped cells arranged in a whorled pattern seen on histology | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:diagnosis made when at least 2/3 features present (optic nerve hypoplasia, hypopituitarism with pituitary hypoplasia, midline forebrain defects) ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:diagnosis made when at least 2/3 features present (optic nerve hypoplasia, hypopituitarism with pituitary hypoplasia, midline forebrain defects) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:disruption of the sarcolemmal membrane seen on muscle biopsy ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:disruption of the sarcolemmal membrane seen on muscle biopsy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:disruption plasma membrane (in some patients) ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:disruption plasma membrane (in some patients) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:distal limb muscle atrophy (less common) ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:distal limb muscle atrophy (less common) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:distal muscle atrophy, lower limbs more severely affected than upper limbs ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:distal muscle atrophy, lower limbs more severely affected than upper limbs | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:distal muscle weakness and atrophy ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:distal muscle weakness and atrophy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:distal muscle weakness, mild ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:distal muscle weakness, mild | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:distal weakness, upper and lower limbs (variable) ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:distal weakness, upper and lower limbs (variable) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:drug-induced dyskinesias occur in a subset of patients ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:drug-induced dyskinesias occur in a subset of patients | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:dystrophic features and atrophic fibers seen on muscle biopsy ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:dystrophic features and atrophic fibers seen on muscle biopsy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:early death due to sepsis ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:early death due to sepsis | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:edema (hands and feet) ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:edema (hands and feet) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:edema is present at birth and then slowly decreases ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:edema is present at birth and then slowly decreases | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:electron microscopy shows abnormal mitochondria with disorganized and vacuolated cristae ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:electron microscopy shows abnormal mitochondria with disorganized and vacuolated cristae | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:episodes last from several hours to days ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:episodes last from several hours to days | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:exercise-induced muscle stiffness ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:exercise-induced muscle stiffness | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:fasciculations (less common) ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:fasciculations (less common) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:fatty deposition ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:fatty deposition | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:fiber type grouping ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:fiber type grouping | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:fibrillations in affected muscles ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:fibrillations in affected muscles | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:firm muscles ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:firm muscles | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:first fracture in early childhood ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:first fracture in early childhood | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:floppy infant ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:floppy infant | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:foot dorsiflexor weakness ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:foot dorsiflexor weakness | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:fractures can occur in utero, during labor and delivery, or in newborn period ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:fractures can occur in utero, during labor and delivery, or in newborn period | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:full recovery after attacks ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:full recovery after attacks | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:generalized amyoplasia ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:generalized amyoplasia | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:generalized muscle weakness, proximal and distal ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:generalized muscle weakness, proximal and distal | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:genetic heterogeneity (see 161800) ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:genetic heterogeneity (see 161800) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:granular deposits in the sarcomeres ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:granular deposits in the sarcomeres | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:hearing loss affects all frequencies ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:hearing loss affects all frequencies | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:hearing loss ma be fluctuating or progressive ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:hearing loss ma be fluctuating or progressive | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:hearing loss may be congenital or rapidly progressive leading to severe hearing loss by age 3 years ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:hearing loss may be congenital or rapidly progressive leading to severe hearing loss by age 3 years | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:highly variable phenotype that includes several subtypes (see, e.g., 607485, 601104) ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:highly variable phenotype that includes several subtypes (see, e.g., 607485, 601104) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:hypertonia at birth ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:hypertonia at birth | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:hypoplasia of cervical paravertebral muscles ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:hypoplasia of cervical paravertebral muscles | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:hyporeflexia ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:hyporeflexia | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:hypothenar muscle atrophy ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:hypothenar muscle atrophy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:hypotonia (2 patients) ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:hypotonia (2 patients) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:icelandic families ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:icelandic families | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:incidence 1 in 30,000 male births ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:incidence 1 in 30,000 male births | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:incidence 5-50 per million (children) and 10-40 per million (adults) ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:incidence 5-50 per million (children) and 10-40 per million (adults) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:incidence of 1 in 10,000 live births ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:incidence of 1 in 10,000 live births | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:incidence of 1 in 10,000 to 1 in 20,000 ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:incidence of 1 in 10,000 to 1 in 20,000 | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:incidence of 1 in 25,000 livebirths ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:incidence of 1 in 25,000 livebirths | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:incidence of 1 in 50,000 to 1 in 100,000 ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:incidence of 1 in 50,000 to 1 in 100,000 | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:inclusions form a lobulated structure seen on electron microscopy ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:inclusions form a lobulated structure seen on electron microscopy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:increased centralized nuclei ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:increased centralized nuclei | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:increased endomysial connective tissue around muscle fibers ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:increased endomysial connective tissue around muscle fibers | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:increased fibrosis (in some patients) ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:increased fibrosis (in some patients) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:increased intramuscular fat ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:increased intramuscular fat | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:increased mitochondria seen on muscle biopsy ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:increased mitochondria seen on muscle biopsy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:increased mitochondria with rare paracrystalline inclusions ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:increased mitochondria with rare paracrystalline inclusions | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:increased muscle tone at birth ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:increased muscle tone at birth | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:increased recurrence risk with parental translocation ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:increased recurrence risk with parental translocation | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:increased variation in muscle fiber diameter ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:increased variation in muscle fiber diameter | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:independent ambulation is maintained ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:independent ambulation is maintained | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:infantile, late-infantile, juvenile, and adult onset have been reported ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:infantile, late-infantile, juvenile, and adult onset have been reported | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:intermittent exacerbations ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:intermittent exacerbations | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:internal nuclei ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:internal nuclei | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:intrafamilial phenotypic variability ranging from transient or permanent neonatal diabetes (610582) to mody (616329) to impaired fasting glucose or impaired glucose tolerance ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:intrafamilial phenotypic variability ranging from transient or permanent neonatal diabetes (610582) to mody (616329) to impaired fasting glucose or impaired glucose tolerance | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:joint laxity decreases with age ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:joint laxity decreases with age | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:juvenile form has onset between 4 and 19 years ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:juvenile form has onset between 4 and 19 years | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:knee and hip flexor weakness due to peripheral neuropathy ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:knee and hip flexor weakness due to peripheral neuropathy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:late-adult onset (usually after age 50 years) ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:late-adult onset (usually after age 50 years) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:later onset can also occur (up to age 17 years) ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:later onset can also occur (up to age 17 years) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:leakage of fluid ('gusher') if the stapes is disturbed ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:leakage of fluid ('gusher') if the stapes is disturbed | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:left sided involvement occurs more frequently ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:left sided involvement occurs more frequently | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:leg edema ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:leg edema | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:length of attack, 3 to 7 days ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:length of attack, 3 to 7 days | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:likely allelic to sc phocomelia syndrome (269000) ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:likely allelic to sc phocomelia syndrome (269000) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:limb muscle weakness and atrophy, distal, neurogenic ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:limb muscle weakness and atrophy, distal, neurogenic | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:limb-girdle muscle weakness (2 families) ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:limb-girdle muscle weakness (2 families) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:lipid droplet accumulation ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:lipid droplet accumulation | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:lipid storage, mainly in type i fibers ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:lipid storage, mainly in type i fibers | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:liveborn often die within first week of life ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:liveborn often die within first week of life | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:liver size returns to normal after 3 months to 3 years ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:liver size returns to normal after 3 months to 3 years | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:loss of adipose tissue occurs around puberty ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:loss of adipose tissue occurs around puberty | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:loss of ambulation (in some patients) ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:loss of ambulation (in some patients) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:loss of truncal subcutaneous adipose tissue ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:loss of truncal subcutaneous adipose tissue | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:lower limbs more often affected ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:lower limbs more often affected | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:lymphedema, dorsa of feet ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:lymphedema, dorsa of feet | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:lymphedema, hands (rare) ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:lymphedema, hands (rare) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:lymphedema, of upper and/or lower extremity (rare) ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:lymphedema, of upper and/or lower extremity (rare) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:majority of patients are stillborn or die before 5 months of age ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:majority of patients are stillborn or die before 5 months of age | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:majority of patients die in neonatal period secondary to respiratory insufficiency ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:majority of patients die in neonatal period secondary to respiratory insufficiency | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:male to female ratio 4:1 ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:male to female ratio 4:1 | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:male to female ratio is greater than 3:1 ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:male to female ratio is greater than 3:1 | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:mallory-like bodies ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:mallory-like bodies | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:marked clinical variability within families ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:marked clinical variability within families | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:marked intrafamilial and interfamilial variability ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:marked intrafamilial and interfamilial variability | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:may be precipitated by minor illness (e.g., viral infection, fever) ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:may be precipitated by minor illness (e.g., viral infection, fever) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:may occur in adults (also in pregnancy) ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:may occur in adults (also in pregnancy) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:mean age at onset 15.2 years ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:mean age at onset 15.2 years | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:mean age at onset is 13 years (range 6 to 43) ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:mean age at onset is 13 years (range 6 to 43) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:mean survival 5 months ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:mean survival 5 months | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:mild kinetic abnormalities of the achr (in some patients) ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:mild kinetic abnormalities of the achr (in some patients) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:milder form with onset in childhood, absence seizures, and learning difficulties ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:milder form with onset in childhood, absence seizures, and learning difficulties | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:minicore-like lesions with mitochondrial depletion and sarcomeric disorganization ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:minicore-like lesions with mitochondrial depletion and sarcomeric disorganization | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:minimal muscle mass ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:minimal muscle mass | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:multiple mitochondrial respiratory enzymes deficiencies seen on biopsy ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:multiple mitochondrial respiratory enzymes deficiencies seen on biopsy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:muscle atrophy later in the disease ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:muscle atrophy later in the disease | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:muscle atrophy, mild ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:muscle atrophy, mild | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:muscle atrophy, severe ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:muscle atrophy, severe | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:muscle biopsy shows 'spheroid bodies' in type 1 muscle fibers ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:muscle biopsy shows 'spheroid bodies' in type 1 muscle fibers | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:muscle biopsy shows 60-80-nm tubular aggregates arranged in hexagonal arrays in type 2 fibers ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:muscle biopsy shows 60-80-nm tubular aggregates arranged in hexagonal arrays in type 2 fibers | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:muscle biopsy shows chronic and active denervation ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:muscle biopsy shows chronic and active denervation | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:muscle biopsy shows decreased muscle-specific phosphorylase kinase activity ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:muscle biopsy shows decreased muscle-specific phosphorylase kinase activity | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:muscle biopsy shows glycogen accumulation in myofibrils and lysosomes ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:muscle biopsy shows glycogen accumulation in myofibrils and lysosomes | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:muscle biopsy shows lipid droplets ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:muscle biopsy shows lipid droplets | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:muscle biopsy shows type 1 fiber predominance and hypertrophy ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:muscle biopsy shows type 1 fiber predominance and hypertrophy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:muscle biopsy shows type 2 fiber atrophy ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:muscle biopsy shows type 2 fiber atrophy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:muscle biopsy shows variation in fiber size ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:muscle biopsy shows variation in fiber size | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:muscle fiber splitting ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:muscle fiber splitting | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:muscle mitochondria normal by histochemical analysis ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:muscle mitochondria normal by histochemical analysis | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:muscle shows lipid accumulation ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:muscle shows lipid accumulation | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:muscle stiffness or aching ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:muscle stiffness or aching | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:muscle weakness following prolonged exercise ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:muscle weakness following prolonged exercise | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:muscle weakness is predominantly of extremities and tongue ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:muscle weakness is predominantly of extremities and tongue | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:muscle weakness of proximal and distal upper and lower limbs ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:muscle weakness of proximal and distal upper and lower limbs | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:muscle weakness, lower limbs (patient a) ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:muscle weakness, lower limbs (patient a) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:muscle weakness, mainly proximal and axial ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:muscle weakness, mainly proximal and axial | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:muscle weakness, proximal limb muscle, mild to moderate ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:muscle weakness, proximal limb muscle, mild to moderate | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:muscular dystrophy (in 1 of 3 patients) ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:muscular dystrophy (in 1 of 3 patients) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:muscular dystrophy with variable age of onset (infancy to young adult) ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:muscular dystrophy with variable age of onset (infancy to young adult) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:myasthenias ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:myasthenias | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:myofibril destruction (in some patients) ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:myofibril destruction (in some patients) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:myofibrillar disorganization ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:myofibrillar disorganization | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:myxedematous appearance ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:myxedematous appearance | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:neurogenic atrophy ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:neurogenic atrophy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:nonspecific myopathic changes ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:nonspecific myopathic changes | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:one patient has been reported (last curated august 2015) ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:one patient has been reported (last curated august 2015) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:onset of symptoms in early childhood in most patients ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:onset of symptoms in early childhood in most patients | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:onset of visual dysfunction in early childhood ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:onset of visual dysfunction in early childhood | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:painful swelling in fasciae ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:painful swelling in fasciae | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:paracrystalline inclusions ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:paracrystalline inclusions | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:patients may die in infancy or childhood due to respiratory failure ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:patients may die in infancy or childhood due to respiratory failure | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:peroneal muscle atrophy ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:peroneal muscle atrophy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:peroneal muscle weakness ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:peroneal muscle weakness | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:phagocytic vacuoles with degraded membranous material ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:phagocytic vacuoles with degraded membranous material | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:presence of additional features is variable ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:presence of additional features is variable | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:presynaptic defect at the neuromuscular junction ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:presynaptic defect at the neuromuscular junction | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:prevalence estimated at 1 in 50,000 ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:prevalence estimated at 1 in 50,000 | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:prevalence of true hypoprothrombinemia is 1 in 2 million ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:prevalence of true hypoprothrombinemia is 1 in 2 million | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:progressive loss of facial adipose tissue ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:progressive loss of facial adipose tissue | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:prolonged endplate potentials ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:prolonged endplate potentials | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:proximal and distal muscle atrophy ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:proximal and distal muscle atrophy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:proximal lower limb muscle weakness, upper and lower (later onset) ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:proximal lower limb muscle weakness, upper and lower (later onset) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:proximal muscle weakness (85% of patients) ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:proximal muscle weakness (85% of patients) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:proximal muscle weakness, limb-girdle distribution ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:proximal muscle weakness, limb-girdle distribution | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:proximal muscle weakness, mild (in some patients) ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:proximal muscle weakness, mild (in some patients) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:proximal muscles more often affected ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:proximal muscles more often affected | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:ragged-red fibers seen on muscle biopsy ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:ragged-red fibers seen on muscle biopsy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:rectus fascia separation ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:rectus fascia separation | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:red-ragged fibers (2p21del) ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:red-ragged fibers (2p21del) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:repetitive action potentials in response to single nerve stimulation ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:repetitive action potentials in response to single nerve stimulation | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:repetitive response to single nerve stimulation ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:repetitive response to single nerve stimulation | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:ring fibers ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:ring fibers | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:sarcomere disappearance seen on muscle biopsy ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:sarcomere disappearance seen on muscle biopsy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:secondary loss of merosin and desmin ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:secondary loss of merosin and desmin | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:shortened open channel duration ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:shortened open channel duration | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:small, firm, rubbery, flesh-colored nodules most commonly found on the head, neck, and trunk ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:small, firm, rubbery, flesh-colored nodules most commonly found on the head, neck, and trunk | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:smooth muscle may also become involved ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:smooth muscle may also become involved | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:spheroid bodies are composed of fine filamentous (myofibrillar) material ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:spheroid bodies are composed of fine filamentous (myofibrillar) material | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:subsarcolemmal accumulations of abnormally shaped mitochondria seen on electron microscopy ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:subsarcolemmal accumulations of abnormally shaped mitochondria seen on electron microscopy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:subsarcolemmal aggregates of abnormal mitochondria with concentric lamellar membranes ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:subsarcolemmal aggregates of abnormal mitochondria with concentric lamellar membranes | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:superior rectus atrophy ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:superior rectus atrophy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:thenar amyotrophy (rare) ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:thenar amyotrophy (rare) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:transient muscle weakness occur in 75% of patients, particularly in the arms and hands ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:transient muscle weakness occur in 75% of patients, particularly in the arms and hands | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:tremor at birth, involving most skeletal muscle groups, especially jaw muscles and lower limb muscles ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:tremor at birth, involving most skeletal muscle groups, especially jaw muscles and lower limb muscles | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:tubular aggregates in muscle fibers may occur ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:tubular aggregates in muscle fibers may occur | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:tubular aggregates seen on muscle biopsy ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:tubular aggregates seen on muscle biopsy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:type 1 fiber predominance seen on muscle biopsy ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:type 1 fiber predominance seen on muscle biopsy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:type 1 muscle fiber predominance ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:type 1 muscle fiber predominance | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:type 2 fiber atrophy see on biopsy ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:type 2 fiber atrophy see on biopsy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:ubiquinone decreased ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:ubiquinone decreased | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:unable to walk ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:unable to walk | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:variability in fiber size ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:variability in fiber size | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:variable phenotype, particularly with regard to cortical malformations ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:variable phenotype, particularly with regard to cortical malformations | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:variation of myofiber diameter ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:variation of myofiber diameter | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:weakness of the anterior tibial muscle and toe extensors ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:weakness of the anterior tibial muscle and toe extensors | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:weakness of the intrinsic hand muscles (in some patients) ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:weakness of the intrinsic hand muscles (in some patients) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:widening of the synaptic cleft ---
r_associated #0: 32 -->
en:attacks may present during or after sleep
n1=en:widening of the synaptic cleft | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=32
- en:a milder form has also been reported ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:a milder form has also been reported | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:abnormal distribution of subcutaneous fat ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:abnormal distribution of subcutaneous fat | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:abnormal fat distribution ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:abnormal fat distribution | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:abnormal iron deposition in mitochondria ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:abnormal iron deposition in mitochondria | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:absence of telethonin protein ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:absence of telethonin protein | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:adult onset (wide range of age) ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:adult onset (wide range of age) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:adult onset has been reported ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:adult onset has been reported | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:affected individuals have a relatively mild ichthyosis phenotype ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:affected individuals have a relatively mild ichthyosis phenotype | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:affected muscles show atrophy ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:affected muscles show atrophy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:aggregates contain granular electron-dense material ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:aggregates contain granular electron-dense material | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:all reported mutations have occurred de novo ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:all reported mutations have occurred de novo | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:allelic to hypoparathyroidism-retardation-dysmorphism syndrome (241410) ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:allelic to hypoparathyroidism-retardation-dysmorphism syndrome (241410) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:angulated fibers ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:angulated fibers | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:ascending muscle weakness (beginning with feet and legs) ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:ascending muscle weakness (beginning with feet and legs) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:atrophic fibers ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:atrophic fibers | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:atrophy of ankle and toe extensor (dorsiflexor) muscles ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:atrophy of ankle and toe extensor (dorsiflexor) muscles | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:atrophy of the muscles in the anterior compartment of the lower leg ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:atrophy of the muscles in the anterior compartment of the lower leg | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:attacks last 4 to 24 hours ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:attacks last 4 to 24 hours | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:autophagic vacuoles seen on biopsy (in some patients) ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:autophagic vacuoles seen on biopsy (in some patients) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:average age at onset between 40 and 50 years ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:average age at onset between 40 and 50 years | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:berardinelli-seip congenital lipodystrophy ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:berardinelli-seip congenital lipodystrophy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:biceps brachii atrophy ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:biceps brachii atrophy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:both autosomal dominant and autosomal recessive inheritance has been described ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:both autosomal dominant and autosomal recessive inheritance has been described | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:buffalo hump (rare) ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:buffalo hump (rare) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:calf muscle enlargement ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:calf muscle enlargement | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:can also be caused by contiguous gene deletion on chromosome 22q11.2 ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:can also be caused by contiguous gene deletion on chromosome 22q11.2 | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:central nuclei ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:central nuclei | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:congenital onset ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:congenital onset | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:congophilic amyloid material ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:congophilic amyloid material | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:contractures of distal lower limbs ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:contractures of distal lower limbs | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:cox-negative fibers seen on muscle biopsy ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:cox-negative fibers seen on muscle biopsy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:death in infancy secondary to respiratory insufficiency/pneumonia ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:death in infancy secondary to respiratory insufficiency/pneumonia | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:death may occur in infancy ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:death may occur in infancy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:decreased adipose tissue around neck ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:decreased adipose tissue around neck | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:decreased muscle mass (especially of limbs) ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:decreased muscle mass (especially of limbs) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:decreased muscle succinate dehydrogenase ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:decreased muscle succinate dehydrogenase | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:decreased or patchy amounts of alpha-dystrobrevin and beta-2-syntrophin at the sarcolemma ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:decreased or patchy amounts of alpha-dystrobrevin and beta-2-syntrophin at the sarcolemma | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:defective mitochondrial oxidative phosphorylation of multiple enzymes ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:defective mitochondrial oxidative phosphorylation of multiple enzymes | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:difficulty climbing stairs, jumping, running ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:difficulty climbing stairs, jumping, running | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:distal limb muscle weakness, lower more than upper ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:distal limb muscle weakness, lower more than upper | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:distal muscle atrophy due to neuropathy ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:distal muscle atrophy due to neuropathy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:distal muscle weakness of the lower limbs secondary to peripheral neuropathy ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:distal muscle weakness of the lower limbs secondary to peripheral neuropathy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:distal skeletal muscle atrophy (after long disease duration) ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:distal skeletal muscle atrophy (after long disease duration) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:elevated body temperatures to 42 degrees celsius ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:elevated body temperatures to 42 degrees celsius | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:exercise capacity decreased ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:exercise capacity decreased | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:eye involvement begins at birth, neurologic involvement begins later ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:eye involvement begins at birth, neurologic involvement begins later | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:fiber type variation ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:fiber type variation | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:finger and wrist extensor weakness ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:finger and wrist extensor weakness | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:focal lymphocytic and macrophage infiltrates on biopsy ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:focal lymphocytic and macrophage infiltrates on biopsy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:foot-drop ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:foot-drop | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:frequency and severity of symptoms do not worsen with age ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:frequency and severity of symptoms do not worsen with age | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:frequency of infections decreases after 3 years of age ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:frequency of infections decreases after 3 years of age | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:generalized lack of subcutaneous fat ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:generalized lack of subcutaneous fat | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:generalized muscle weakness also seen in symptomatic carrier females ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:generalized muscle weakness also seen in symptomatic carrier females | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:global muscle weakness ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:global muscle weakness | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:glycogen accumulation seen on biopsy ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:glycogen accumulation seen on biopsy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:hearing loss occurs later if at all ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:hearing loss occurs later if at all | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:heterozygous carriers exhibit palmoplantar hyperkeratosis (see 148700) ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:heterozygous carriers exhibit palmoplantar hyperkeratosis (see 148700) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:high mortality in infancy and early childhood (in some patients) ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:high mortality in infancy and early childhood (in some patients) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:hip girdle muscle weakness (usually presenting symptom) ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:hip girdle muscle weakness (usually presenting symptom) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:hyperpigmented patches increased in size and number with age ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:hyperpigmented patches increased in size and number with age | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:hypoglycosylation of alpha-dystroglycan seen on muscle biopsy ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:hypoglycosylation of alpha-dystroglycan seen on muscle biopsy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:hypoplasia of the hand muscles (29%) ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:hypoplasia of the hand muscles (29%) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:hypotonia (45%) ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:hypotonia (45%) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:imaging shows progressive fatty infiltration of muscle ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:imaging shows progressive fatty infiltration of muscle | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:incidence of 1 in 5,000 to 1 in 10,000 ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:incidence of 1 in 5,000 to 1 in 10,000 | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:increased intraabdominal fat ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:increased intraabdominal fat | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:increased male to female ratio (7.5:1) ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:increased male to female ratio (7.5:1) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:increased susceptibility to multiple carcinomas ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:increased susceptibility to multiple carcinomas | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:increased variation in fiber size (in some patients) ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:increased variation in fiber size (in some patients) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:infants show normal size and appearance ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:infants show normal size and appearance | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:intermediate expression in females ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:intermediate expression in females | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:intermyofibrillar and subsarcolemmal granulofilamentous protein aggregates ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:intermyofibrillar and subsarcolemmal granulofilamentous protein aggregates | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:itch, pain, and body malodor often ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:itch, pain, and body malodor often | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:limb lymphedema (in some patients) ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:limb lymphedema (in some patients) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:lipid droplets seen on muscle biopsy ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:lipid droplets seen on muscle biopsy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:lipoatrophy (lower face, upper limb, buttock) ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:lipoatrophy (lower face, upper limb, buttock) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:lipodystrophy, generalized, panniculitis-induced (in some) ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:lipodystrophy, generalized, panniculitis-induced (in some) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:loss of antigravity strength ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:loss of antigravity strength | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:loss of lower-limb tendon reflexes ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:loss of lower-limb tendon reflexes | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:lymphedema of lower limbs (in some patients) ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:lymphedema of lower limbs (in some patients) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:majority of cases are male ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:majority of cases are male | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:male-to-female ratio, 1.8 to 1 ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:male-to-female ratio, 1.8 to 1 | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:males tend to have earlier onset than females ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:males tend to have earlier onset than females | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:manifestations continue to appear until 5th decade ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:manifestations continue to appear until 5th decade | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:may be fatal in infancy ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:may be fatal in infancy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:may be lethal if untreated ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:may be lethal if untreated | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:mean age at onset 22 years (range 7 to 50 years) ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:mean age at onset 22 years (range 7 to 50 years) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:mean age at onset 28 years ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:mean age at onset 28 years | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:mean age at onset of migraines is 42 years ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:mean age at onset of migraines is 42 years | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:minicore regions are poorly defined and do not extend through entire fiber length ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:minicore regions are poorly defined and do not extend through entire fiber length | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:minipolymyoclonus ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:minipolymyoclonus | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:mitochondrial proliferation ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:mitochondrial proliferation | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:muscle aches, intermittent ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:muscle aches, intermittent | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:muscle atrophy, proximal and distal (predominant lower limb involvement) ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:muscle atrophy, proximal and distal (predominant lower limb involvement) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:muscle biopsy in acute stage shows increased numbers of abnormal mitochondria ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:muscle biopsy in acute stage shows increased numbers of abnormal mitochondria | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:muscle biopsy shows abnormal mitochondria ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:muscle biopsy shows abnormal mitochondria | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:muscle biopsy shows dystrophic changes ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:muscle biopsy shows dystrophic changes | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:muscle biopsy shows hypotrophy of type 1 muscle fibers ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:muscle biopsy shows hypotrophy of type 1 muscle fibers | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:muscle biopsy shows neurogenic atrophy ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:muscle biopsy shows neurogenic atrophy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:muscle biopsy shows rimmed vacuoles ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:muscle biopsy shows rimmed vacuoles | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:muscle fiber splitting (in some patients) ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:muscle fiber splitting (in some patients) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:muscle hypertrophy ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:muscle hypertrophy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:muscle weakness, distal more than proximal ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:muscle weakness, distal more than proximal | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:muscle weakness, limb-girdle, mild ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:muscle weakness, limb-girdle, mild | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:muscle weakness, predominantly proximal (in some patients) ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:muscle weakness, predominantly proximal (in some patients) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:muscle weakness, proximal, slowly progressive ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:muscle weakness, proximal, slowly progressive | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:muscle weakness, severe ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:muscle weakness, severe | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:muscle weakness, severe, axial and proximal predominance ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:muscle weakness, severe, axial and proximal predominance | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:muscular hypotonia of the trunk ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:muscular hypotonia of the trunk | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:myofibromatosis affecting skin, muscle, bone, and viscera ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:myofibromatosis affecting skin, muscle, bone, and viscera | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:myopathic episodes triggered by exercise, fasting, infection, cold temperatures ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:myopathic episodes triggered by exercise, fasting, infection, cold temperatures | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:myopathy with abnormal lipid metabolism ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:myopathy with abnormal lipid metabolism | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:myotonia is most pronounced in the extremities ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:myotonia is most pronounced in the extremities | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:myotonic discharges ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:myotonic discharges | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:necrotic and atrophic fibers with centralized nuclei ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:necrotic and atrophic fibers with centralized nuclei | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:necrotic and atrophic fibers with centralized nuclei seen on muscle biopsy ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:necrotic and atrophic fibers with centralized nuclei seen on muscle biopsy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:nemaline rods (rare) ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:nemaline rods (rare) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:no extraocular findings ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:no extraocular findings | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:no facial muscle involvement ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:no facial muscle involvement | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:no rods ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:no rods | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:no staining for oxidative enzymes ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:no staining for oxidative enzymes | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:normal neonatal period may occur before weakness is apparent ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:normal neonatal period may occur before weakness is apparent | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:normal or increased truncal adipose tissue ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:normal or increased truncal adipose tissue | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:normal phosphorylase kinase activity in muscle ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:normal phosphorylase kinase activity in muscle | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:numerous vacuole-like areas ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:numerous vacuole-like areas | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:onset of weakness in hands and feet ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:onset of weakness in hands and feet | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:other mitochondrial complex enzyme activities may also be decreased ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:other mitochondrial complex enzyme activities may also be decreased | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:patient b is 1 child born of unrelated scandinavian parents with a more severe phenotype with onset in the neonatal period ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:patient b is 1 child born of unrelated scandinavian parents with a more severe phenotype with onset in the neonatal period | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:phenotypic variation (may affect language expression, reception, and/or articulation) ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:phenotypic variation (may affect language expression, reception, and/or articulation) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:poor head control ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:poor head control | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:poor response to l-dopa ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:poor response to l-dopa | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:potassium sensitivity has been reported ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:potassium sensitivity has been reported | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:preservation of visceral, neck, and axillary fat pads ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:preservation of visceral, neck, and axillary fat pads | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:preserved junctional structure seen on muscle biopsy ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:preserved junctional structure seen on muscle biopsy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:prevalent among the amish ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:prevalent among the amish | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:progressive distal muscle weakness ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:progressive distal muscle weakness | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:progressive ectopic ossification (neck, dorsal trunk, proximal limbs, sternocleidomastoid, masseters) ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:progressive ectopic ossification (neck, dorsal trunk, proximal limbs, sternocleidomastoid, masseters) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:proximal muscle weakness (occasional) ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:proximal muscle weakness (occasional) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:proximal muscle weakness in upper limbs ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:proximal muscle weakness in upper limbs | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:pyogenic arthritis, pyoderma gangrenosum and acne ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:pyogenic arthritis, pyoderma gangrenosum and acne | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:rectus medial atrophy ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:rectus medial atrophy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:recurrent bacterial infection ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:recurrent bacterial infection | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:recurrent episodes of liver failure during intercurrent infections ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:recurrent episodes of liver failure during intercurrent infections | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:reduced subcutaneous adipose tissue ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:reduced subcutaneous adipose tissue | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:relatively mild phenotype ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:relatively mild phenotype | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:repetitive response to single nerve stimulus ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:repetitive response to single nerve stimulus | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:secondary loss of sarcolemmal caveolin-3 ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:secondary loss of sarcolemmal caveolin-3 | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:secondary myopathic changes ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:secondary myopathic changes | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:seizures remit spontaneously by age 5 years ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:seizures remit spontaneously by age 5 years | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:shortening of various muscle-tendon groups in feet ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:shortening of various muscle-tendon groups in feet | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:single umbilical artery ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:single umbilical artery | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:skeletal and facial features are variable ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:skeletal and facial features are variable | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:skeletal muscle weakness ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:skeletal muscle weakness | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:slight male predominance (3:2) ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:slight male predominance (3:2) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:some patients become wheelchair-dependent ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:some patients become wheelchair-dependent | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:some subcutaneous adipose tissue may remain on upper arms ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:some subcutaneous adipose tissue may remain on upper arms | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:subcutaneous fat markedly reduced ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:subcutaneous fat markedly reduced | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:subsarcolemmal hyaline bodies in type 1 fibers only ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:subsarcolemmal hyaline bodies in type 1 fibers only | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:superficial rerouting of lymph through the skin ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:superficial rerouting of lymph through the skin | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:transient eosinophilic myositis (seen on muscle biopsy) in the first decade ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:transient eosinophilic myositis (seen on muscle biopsy) in the first decade | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:two unrelated consanguineous families have been reported (last curated july 2015) ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:two unrelated consanguineous families have been reported (last curated july 2015) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:vacuolar membranes immunostain with sarcolemmal proteins ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:vacuolar membranes immunostain with sarcolemmal proteins | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:variation of fiber size and shape ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:variation of fiber size and shape | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- en:z-band streaming ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=en:z-band streaming | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- fasciculation musculaire ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=fasciculation musculaire | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- hydramnios ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=hydramnios | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- incapable de marcher ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=incapable de marcher | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- myokymie ---
r_associated #0: 31 -->
en:attacks may present during or after sleep
n1=myokymie | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=31
- déficit en cytochrome oxydase ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=déficit en cytochrome oxydase | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- déficit en cytochrome-c oxydase ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=déficit en cytochrome-c oxydase | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:abnormal fat accumulation in axillae (in some patients) ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:abnormal fat accumulation in axillae (in some patients) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:absence of necrosis ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:absence of necrosis | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:accelerated decay of the synaptic current ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:accelerated decay of the synaptic current | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:adult onset (20 to 50 years) ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:adult onset (20 to 50 years) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:age of onset of distal lower limb weakness 8-16 years ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:age of onset of distal lower limb weakness 8-16 years | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:age of onset usually 1 week to 2 years ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:age of onset usually 1 week to 2 years | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:angular atrophic fibers ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:angular atrophic fibers | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:anterior tibial muscles first involved ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:anterior tibial muscles first involved | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:approximately 50% of patients have situs inversus ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:approximately 50% of patients have situs inversus | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:asymptomatic patients may show changes on sd-oct ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:asymptomatic patients may show changes on sd-oct | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:atrophy of the intrinsic foot and hand muscles ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:atrophy of the intrinsic foot and hand muscles | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:atrophy of the small muscles in the hands and feet ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:atrophy of the small muscles in the hands and feet | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:atrophy of the thenar and hypothenar muscles ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:atrophy of the thenar and hypothenar muscles | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:atrophy of upper girdle muscles ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:atrophy of upper girdle muscles | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:atrophy, mild (in some cases) ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:atrophy, mild (in some cases) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:autoimmune features are variable ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:autoimmune features are variable | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:axial muscle hyperextension, episodic ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:axial muscle hyperextension, episodic | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:based on report of 4 patients from 1 family (last curated july 2015) ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:based on report of 4 patients from 1 family (last curated july 2015) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:biopsy muscle normal ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:biopsy muscle normal | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:biopsy of adipose tissue shows reduced adipocyte size ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:biopsy of adipose tissue shows reduced adipocyte size | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:biopsy shows defects in pyruvate oxidation ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:biopsy shows defects in pyruvate oxidation | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:bleeding is usually delayed-onset after challenge ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:bleeding is usually delayed-onset after challenge | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:calf hypertrophy (in some patients) ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:calf hypertrophy (in some patients) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:clumsiness ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:clumsiness | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:coloboma is associated with larger microdeletion (490kb) of 11q13 ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:coloboma is associated with larger microdeletion (490kb) of 11q13 | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:congenital absence of gluteal muscles ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:congenital absence of gluteal muscles | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:congenital fiber-type disproportion ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:congenital fiber-type disproportion | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:contractures other than plantar are less common and less severe ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:contractures other than plantar are less common and less severe | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:cranial muscles spared ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:cranial muscles spared | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:cytochrome-c oxidase deficiency ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:cytochrome-c oxidase deficiency | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:deafferentation ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:deafferentation | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:death in the first years of life ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:death in the first years of life | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:decreased activities of several mitochondrial respiratory enzymes ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:decreased activities of several mitochondrial respiratory enzymes | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:decreased cytochrome c oxidase staining ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:decreased cytochrome c oxidase staining | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:decreased lactate clearance from muscle after exercise (reported in 1 patient) ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:decreased lactate clearance from muscle after exercise (reported in 1 patient) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:decremental response of compound muscle action potential on repetitive nerve stimulation ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:decremental response of compound muscle action potential on repetitive nerve stimulation | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:deep finger muscle weakness ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:deep finger muscle weakness | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:developmental fault ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:developmental fault | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:difficulty raising arms ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:difficulty raising arms | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:disruption in the basal lamina seen on skeletal muscle biopsy ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:disruption in the basal lamina seen on skeletal muscle biopsy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:distal muscle atrophy (1 patient) ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:distal muscle atrophy (1 patient) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:distal muscle wasting, mild ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:distal muscle wasting, mild | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:distal muscle weakness (first affects anterior leg muscles, then posterior leg muscles) ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:distal muscle weakness (first affects anterior leg muscles, then posterior leg muscles) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:distal muscle weakness may occur ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:distal muscle weakness may occur | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:distal muscle weakness, occurs initially ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:distal muscle weakness, occurs initially | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:distal muscles may be affected ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:distal muscles may be affected | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:easy fatigue ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:easy fatigue | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:electromyographic decrements in some muscles ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:electromyographic decrements in some muscles | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:endomysial fibrosis ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:endomysial fibrosis | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:enlarged vesicles of sarcoplasmic reticulum origin ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:enlarged vesicles of sarcoplasmic reticulum origin | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:extensor muscle weakness more severe than flexor muscle weakness ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:extensor muscle weakness more severe than flexor muscle weakness | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:fatal before age 2 years ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:fatal before age 2 years | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:fatty infiltration seen on muscle biopsy ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:fatty infiltration seen on muscle biopsy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:favorable response to ursodeoxycholic acid treatment ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:favorable response to ursodeoxycholic acid treatment | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:female carriers may be affected ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:female carriers may be affected | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:females often show milder phenotype with later onset of cardiac symptoms ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:females often show milder phenotype with later onset of cardiac symptoms | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:foot extensor muscle weakness (later onset) ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:foot extensor muscle weakness (later onset) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:four patients from 3 families have been reported (last curated march 2016) ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:four patients from 3 families have been reported (last curated march 2016) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:four unrelated families have been reported (last curated september 2015) ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:four unrelated families have been reported (last curated september 2015) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:genetic heterogeneity (see 116800 for summary) ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:genetic heterogeneity (see 116800 for summary) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:hearing loss progresses to profound deafness ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:hearing loss progresses to profound deafness | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:heterozygote may have elevated serum phosphate and elevated serum 1,25-dihydroxycholecalciferol ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:heterozygote may have elevated serum phosphate and elevated serum 1,25-dihydroxycholecalciferol | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:heterozygous female carriers may manifest symptoms ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:heterozygous female carriers may manifest symptoms | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:heterozygous females more mildly affected than hemizygous males ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:heterozygous females more mildly affected than hemizygous males | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:highly variable phenotype with respect to facial dysmorphism and neurologic features ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:highly variable phenotype with respect to facial dysmorphism and neurologic features | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:highly variable phenotype, some adults may be asymptomatic ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:highly variable phenotype, some adults may be asymptomatic | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:hyaline plaques with absent oxidative activity ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:hyaline plaques with absent oxidative activity | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:hyperthermia in early childhood ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:hyperthermia in early childhood | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:hypertonicity of the lower limbs ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:hypertonicity of the lower limbs | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:hypotonia (patients a and c) ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:hypotonia (patients a and c) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:hypotonia, truncal and appendicular ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:hypotonia, truncal and appendicular | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:in severe attacks, hemiplegia or coma may last days to weeks ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:in severe attacks, hemiplegia or coma may last days to weeks | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:in the absence of hydrops, death occurs within 3 months ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:in the absence of hydrops, death occurs within 3 months | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:incidence 1-1.5/1,000 live births ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:incidence 1-1.5/1,000 live births | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:incidence is estimated to be between 1 in 2,000 and 1 in 7,000 live births ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:incidence is estimated to be between 1 in 2,000 and 1 in 7,000 live births | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:incidence of 1 in 300,000 ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:incidence of 1 in 300,000 | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:incidence worldwide of 1 in 30,000 to 50,000 ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:incidence worldwide of 1 in 30,000 to 50,000 | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:incidence, 1 in 500 heterozygotes, 1 in 1,000,000 homozygotes ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:incidence, 1 in 500 heterozygotes, 1 in 1,000,000 homozygotes | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:incomplete penetrance (50%) ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:incomplete penetrance (50%) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:incomplete penetrance (range 13% to 77% by 50 years of age) ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:incomplete penetrance (range 13% to 77% by 50 years of age) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:increased connective tissue and fat in muscles ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:increased connective tissue and fat in muscles | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:increased endomysial fibrosis ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:increased endomysial fibrosis | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:increased subcutaneous truncal adipose tissue ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:increased subcutaneous truncal adipose tissue | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:indentations or folds of the sarcolemma are connected to the membranes enclosing the vacuoles ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:indentations or folds of the sarcolemma are connected to the membranes enclosing the vacuoles | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:individuals do not develop erythrocytosis under hypoxic conditions ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:individuals do not develop erythrocytosis under hypoxic conditions | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:infantile axial hypotonia ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:infantile axial hypotonia | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:infantile form has onset within first 6 months of life ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:infantile form has onset within first 6 months of life | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:infants may have acute life-threatening crises ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:infants may have acute life-threatening crises | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:infections may precipitate ketotic episodes ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:infections may precipitate ketotic episodes | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:inflammatory arthritis may develop in 30% of patients ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:inflammatory arthritis may develop in 30% of patients | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:isolated finding ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:isolated finding | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:large lipid droplets ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:large lipid droplets | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:late adult onset (after age 55 years) ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:late adult onset (after age 55 years) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:late infantile onset 6-24 months ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:late infantile onset 6-24 months | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:late-onset, slowly progressing form of retinitis pigmentosa ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:late-onset, slowly progressing form of retinitis pigmentosa | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:later onset in females ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:later onset in females | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:later onset of optic atrophy (mean 19 years, range 5 to 50 years) ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:later onset of optic atrophy (mean 19 years, range 5 to 50 years) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:lethal in utero or perinatal lethal ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:lethal in utero or perinatal lethal | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:loss of subcutaneous adipose tissue primarily in gluteal region and lower limbs ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:loss of subcutaneous adipose tissue primarily in gluteal region and lower limbs | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:loss of subcutaneous and visceral adipose tissue, mild ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:loss of subcutaneous and visceral adipose tissue, mild | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:loss of subcutaneous fat, generalized ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:loss of subcutaneous fat, generalized | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:low maximum workload on exercise testing ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:low maximum workload on exercise testing | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:lymphangitis, episodic ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:lymphangitis, episodic | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:lymphedema of the hands (in some patients) ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:lymphedema of the hands (in some patients) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:madelung deformity more frequent and more severe in females ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:madelung deformity more frequent and more severe in females | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:majority of cases (95%) are sporadic ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:majority of cases (95%) are sporadic | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:majority of cases diagnosed at age 10-15 years ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:majority of cases diagnosed at age 10-15 years | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:majority of children die before age 2 ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:majority of children die before age 2 | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:many cases are asymptomatic ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:many cases are asymptomatic | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:marked heterogeneity ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:marked heterogeneity | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:marked loss of subcutaneous fat in the limbs, face, and sometimes chest ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:marked loss of subcutaneous fat in the limbs, face, and sometimes chest | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:marked phenotypic variability, even within an individual ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:marked phenotypic variability, even within an individual | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:may be asymptomatic ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:may be asymptomatic | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:may be progressive ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:may be progressive | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:may be triggered by medications, including antineoplastic agents, immunotherapeutic agents, and antiplatelet agents ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:may be triggered by medications, including antineoplastic agents, immunotherapeutic agents, and antiplatelet agents | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:mean age at onset 24 years (range 14 to 33 years) ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:mean age at onset 24 years (range 14 to 33 years) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:mean age at onset 57-60 years ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:mean age at onset 57-60 years | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:mean age of onset about 62 years (45-79 years) ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:mean age of onset about 62 years (45-79 years) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:median age of onset of pigmentation - 8 years (range 1-15 years) ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:median age of onset of pigmentation - 8 years (range 1-15 years) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:median survival is > 50 years ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:median survival is > 50 years | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:medullary thyroid cancer is aggressive and can occur in childhood ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:medullary thyroid cancer is aggressive and can occur in childhood | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:merosin-positive biopsy ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:merosin-positive biopsy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:minicores or core-like regions may be present ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:minicores or core-like regions may be present | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:most patients become wheelchair-bound in the second or third decades ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:most patients become wheelchair-bound in the second or third decades | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:multiple prenatal fractures ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:multiple prenatal fractures | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:muscle atrophy affecting the upper back and neck muscles ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:muscle atrophy affecting the upper back and neck muscles | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:muscle atrophy appears later in disease course ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:muscle atrophy appears later in disease course | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:muscle biopsy shows cytochrome c oxidase-negative fibers ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:muscle biopsy shows cytochrome c oxidase-negative fibers | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:muscle biopsy shows decreased glycosylation of alpha-dystroglycan ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:muscle biopsy shows decreased glycosylation of alpha-dystroglycan | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:muscle biopsy shows hypoglycosylation of alpha-dystroglycan ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:muscle biopsy shows hypoglycosylation of alpha-dystroglycan | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:muscle biopsy shows lipid deposition ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:muscle biopsy shows lipid deposition | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:muscle biopsy shows neurogenic atrophy affecting both fibers types ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:muscle biopsy shows neurogenic atrophy affecting both fibers types | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:muscle biopsy shows peripheral accumulation of abnormal mitochondria ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:muscle biopsy shows peripheral accumulation of abnormal mitochondria | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:muscle biopsy shows type 1 fiber predominance ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:muscle biopsy shows type 1 fiber predominance | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:muscle cramps during exercise ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:muscle cramps during exercise | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:muscle fibers are immunoreactive for desmin and vimentin ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:muscle fibers are immunoreactive for desmin and vimentin | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:muscle fibers may contain abnormal polysaccharide ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:muscle fibers may contain abnormal polysaccharide | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:muscle pain with exercise (in older patients) ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:muscle pain with exercise (in older patients) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:muscle weakness (in 90% of patients) ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:muscle weakness (in 90% of patients) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:muscle weakness after cooling or on warming affected muscle ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:muscle weakness after cooling or on warming affected muscle | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:muscle weakness restricted to the upper limb ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:muscle weakness restricted to the upper limb | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:muscle weakness, particularly of the lower limbs ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:muscle weakness, particularly of the lower limbs | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:muscle weakness, proximal, limb-girdle ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:muscle weakness, proximal, limb-girdle | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:myalgia with febrile episodes (rare) ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:myalgia with febrile episodes (rare) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:myofibrillar myopathy ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:myofibrillar myopathy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:myopathy, nonprogressive ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:myopathy, nonprogressive | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:myotonia is usually not seen ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:myotonia is usually not seen | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:myotonia, potassium-sensitive (may be responsive to acetazolamide) ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:myotonia, potassium-sensitive (may be responsive to acetazolamide) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:nearly complete absence of metabolically active adipose tissue (subcutaneous, intraabdominal, intrathoracic) ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:nearly complete absence of metabolically active adipose tissue (subcutaneous, intraabdominal, intrathoracic) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:nemaline bodies occur in type 1 fibers ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:nemaline bodies occur in type 1 fibers | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:nonspecific muscle fiber atrophy ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:nonspecific muscle fiber atrophy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:normal or increased adipose tissue around the neck ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:normal or increased adipose tissue around the neck | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:one family and 2 unrelated patients have been reported (last curated december 2015) ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:one family and 2 unrelated patients have been reported (last curated december 2015) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:onset in early infancy ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:onset in early infancy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:paradoxical myotonia (myotonia increases with exercise) ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:paradoxical myotonia (myotonia increases with exercise) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:patchy muscle fiber degeneration ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:patchy muscle fiber degeneration | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:pectoralis hypoplasia ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:pectoralis hypoplasia | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:pectoralis major hypoplasia ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:pectoralis major hypoplasia | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:pelvic girdle muscle weakness (occurs earlier) ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:pelvic girdle muscle weakness (occurs earlier) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:pelvic girdle weakness ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:pelvic girdle weakness | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:presentation in children - diarrhea, constipation (rarely), short stature, pubertal delay, rickets, iron and folate deficiency with anemia ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:presentation in children - diarrhea, constipation (rarely), short stature, pubertal delay, rickets, iron and folate deficiency with anemia | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:progressive proximal muscle involvement ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:progressive proximal muscle involvement | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:proximal limb muscle weakness initially ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:proximal limb muscle weakness initially | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:proximal muscle weakness occurs later ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:proximal muscle weakness occurs later | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:proximal muscle weakness, mild, of shoulder and hip girdle muscles (in some patients) ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:proximal muscle weakness, mild, of shoulder and hip girdle muscles (in some patients) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:proximal myopathy ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:proximal myopathy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:pyruvate oxidation defect ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:pyruvate oxidation defect | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:quinidine therapy may be effective ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:quinidine therapy may be effective | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:reduced activity of mitochondrial respiratory chains (1 family) ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:reduced activity of mitochondrial respiratory chains (1 family) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:relative sparing of the tibialis anterior ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:relative sparing of the tibialis anterior | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:rhabdomyolysis may occur ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:rhabdomyolysis may occur | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:rounded, atrophic fibers (family a) ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:rounded, atrophic fibers (family a) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:severe form shows absence of spontaneous activity at birth ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:severe form shows absence of spontaneous activity at birth | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:shoulder girdle weakness ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:shoulder girdle weakness | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:shoulder weakness and atrophy ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:shoulder weakness and atrophy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:skeletal muscle biopsy shows dystrophic changes ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:skeletal muscle biopsy shows dystrophic changes | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:skeletal muscle biopsy shows hypertrophy of type 1 and 2 muscle fibers ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:skeletal muscle biopsy shows hypertrophy of type 1 and 2 muscle fibers | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:some patients never achieve ambulation ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:some patients never achieve ambulation | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:structurally abnormal mitochondria ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:structurally abnormal mitochondria | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:subsarcolemmal lipofuscin-positive deposits ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:subsarcolemmal lipofuscin-positive deposits | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:symptoms may be induced by heat ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:symptoms may be induced by heat | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:toe and foot dorsiflexor weakness ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:toe and foot dorsiflexor weakness | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:tremors subside over the first 2 to 3 months of life ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:tremors subside over the first 2 to 3 months of life | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:tubular aggregates (in some patients) ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:tubular aggregates (in some patients) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:two sisters born of consanguineous palestinian parents have been reported (last curated september 2015) ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:two sisters born of consanguineous palestinian parents have been reported (last curated september 2015) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:two unrelated families have been reported (last curated october 2015) ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:two unrelated families have been reported (last curated october 2015) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:type 1 fiber atrophy seen on muscle biopsy ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:type 1 fiber atrophy seen on muscle biopsy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:upper limb weakness ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:upper limb weakness | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:uterine muscle may be stiff during pregnancy ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:uterine muscle may be stiff during pregnancy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:vacuolar degeneration ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:vacuolar degeneration | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:vacuolar myopathy may occur ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:vacuolar myopathy may occur | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:variable decreases in mitochondrial respiratory complex enzyme activities ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:variable decreases in mitochondrial respiratory complex enzyme activities | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:variable deficiencies of mitochondrial respiratory chain enzymes ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:variable deficiencies of mitochondrial respiratory chain enzymes | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:visual impairment is present at birth and is progressive ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:visual impairment is present at birth and is progressive | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:walking may be limited ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:walking may be limited | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:weakness of the extensor muscles of the hands (initially) ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:weakness of the extensor muscles of the hands (initially) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:weakness worsened by activity ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:weakness worsened by activity | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:wrist swelling ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:wrist swelling | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:z-disk degeneration ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=en:z-disk degeneration | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- léthal ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=léthal | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- myalgie ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=myalgie | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- palpitation ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=palpitation | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- rétinopathie pigmentaire ---
r_associated #0: 30 -->
en:attacks may present during or after sleep
n1=rétinopathie pigmentaire | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=30
- en:(3) adult nonnephropathic (219750) ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:(3) adult nonnephropathic (219750) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:abnormal changes in the organization of the sarcolemma and the subsarcolemmal membrane cytoskeleton ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:abnormal changes in the organization of the sarcolemma and the subsarcolemmal membrane cytoskeleton | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:abnormal fat pad, buttocks and upper thighs (in some patients) ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:abnormal fat pad, buttocks and upper thighs (in some patients) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:abnormal fiber size variation ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:abnormal fiber size variation | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:abnormal fiber size variation seen on muscle biopsy ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:abnormal fiber size variation seen on muscle biopsy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:abnormal mitochondria in skeletal muscle biopsy ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:abnormal mitochondria in skeletal muscle biopsy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:absence of gamma-sarcoglycan protein ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:absence of gamma-sarcoglycan protein | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:absence of laminin alpha-2 chain in muscle ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:absence of laminin alpha-2 chain in muscle | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:absence of merosin in muscle ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:absence of merosin in muscle | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:absence of myotonia in infancy (congenital form) ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:absence of myotonia in infancy (congenital form) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:adult onset of neurologic symptoms has been reported in 1 family ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:adult onset of neurologic symptoms has been reported in 1 family | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:affected individuals are born with normal-appearing skin and develop scaling a few days after birth ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:affected individuals are born with normal-appearing skin and develop scaling a few days after birth | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:age at onset 14 to 44 years ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:age at onset 14 to 44 years | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:allelic disorder to choreoathetosis, congenital hypothyroidism, and neonatal respiratory distress (610978), which is a more severe disorder ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:allelic disorder to choreoathetosis, congenital hypothyroidism, and neonatal respiratory distress (610978), which is a more severe disorder | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:angulated atrophic fibers ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:angulated atrophic fibers | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:approximately half of the mutations are de novo ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:approximately half of the mutations are de novo | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:areflexia of lower limbs ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:areflexia of lower limbs | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:attacks usually decrease or disappear after age 40 years ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:attacks usually decrease or disappear after age 40 years | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:based on one sib pair each in their seventies ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:based on one sib pair each in their seventies | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:bilateral facial weakness (congenital form) ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:bilateral facial weakness (congenital form) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:calf and thigh cramping muscle pains ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:calf and thigh cramping muscle pains | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:calf hypertrophy (early in the disease) ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:calf hypertrophy (early in the disease) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:calf hypertrophy (uncommon) ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:calf hypertrophy (uncommon) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:chronic neurogenic changes seen on emg ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:chronic neurogenic changes seen on emg | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:clinical presentation varies from asymptomatic to fulminant course ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:clinical presentation varies from asymptomatic to fulminant course | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:condition is experienced by patients as harmless and is often discovered incidentally ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:condition is experienced by patients as harmless and is often discovered incidentally | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:death in perinatal period ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:death in perinatal period | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:decreased achr ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:decreased achr | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:decreased activity of multiple mitochondrial respiratory complex enzymes ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:decreased activity of multiple mitochondrial respiratory complex enzymes | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:decreased density of calcium release units ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:decreased density of calcium release units | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:decreased miniature endplate potential (mepp) and current (mepc) ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:decreased miniature endplate potential (mepp) and current (mepc) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:decreased muscle action potential after warming affected muscle ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:decreased muscle action potential after warming affected muscle | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:decreased muscle bulk ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:decreased muscle bulk | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:decreased muscle bulk (in one patient) ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:decreased muscle bulk (in one patient) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:decreased muscle mass (predominantly in lower extremities) ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:decreased muscle mass (predominantly in lower extremities) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:defective glycosylation of alpha-dystroglycan seen on biopsy ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:defective glycosylation of alpha-dystroglycan seen on biopsy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:denuded postsynaptic regions ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:denuded postsynaptic regions | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:deposits immunoreactive to beta-amyloid protein ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:deposits immunoreactive to beta-amyloid protein | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:developmental anomaly ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:developmental anomaly | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:disarray of mitochondrial cristae seen on muscle biopsy ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:disarray of mitochondrial cristae seen on muscle biopsy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:distal amyotrophy (hands and feet) ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:distal amyotrophy (hands and feet) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:distal limb muscle weakness (less common) ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:distal limb muscle weakness (less common) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:distal muscle atrophy due to denervation ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:distal muscle atrophy due to denervation | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:distal muscle atrophy, predominantly affecting the lower limbs ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:distal muscle atrophy, predominantly affecting the lower limbs | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:distal muscle weakness in lower limbs, severe ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:distal muscle weakness in lower limbs, severe | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:distal upper limb amyotrophy ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:distal upper limb amyotrophy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:distal upper limb muscle weakness ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:distal upper limb muscle weakness | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:distinct from pseudopili annulati (613241) ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:distinct from pseudopili annulati (613241) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:diurnal fluctuation ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:diurnal fluctuation | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:dorsal and flexor muscles of the forearm are involved ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:dorsal and flexor muscles of the forearm are involved | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:early death occurs in affected infants (days to months after disease onset) ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:early death occurs in affected infants (days to months after disease onset) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:edema reoccurs with infections ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:edema reoccurs with infections | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:end-stage renal failure may occur ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:end-stage renal failure may occur | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:episodes tend to decrease with age ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:episodes tend to decrease with age | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:episodic, nonpruritic, nonurticarial, nonpitting edema ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:episodic, nonpruritic, nonurticarial, nonpitting edema | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:excess fat, symmetrically located in buttocks and lower extremities to ankles ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:excess fat, symmetrically located in buttocks and lower extremities to ankles | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:exercise-induced weakness ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:exercise-induced weakness | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:fatty replacement ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:fatty replacement | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:female carriers may show intermittent hematuria ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:female carriers may show intermittent hematuria | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:fiber type variation seen on biopsy ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:fiber type variation seen on biopsy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:fiber-type grouping pattern ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:fiber-type grouping pattern | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:fragmentation of the neuromuscular junction with pre- and postsynaptic defects ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:fragmentation of the neuromuscular junction with pre- and postsynaptic defects | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:gait abnormalities (occurs later) ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:gait abnormalities (occurs later) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:generalized weakness (adult-onset) ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:generalized weakness (adult-onset) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:genetic heterogeneity (see 609192) ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:genetic heterogeneity (see 609192) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:great variation in extent of hypertrophy in mutation-positive individuals ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:great variation in extent of hypertrophy in mutation-positive individuals | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:hamstring muscle affected ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:hamstring muscle affected | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:hand muscle atrophy ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:hand muscle atrophy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:handgrip myotonia ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:handgrip myotonia | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:heterozygotes are not affected ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:heterozygotes are not affected | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:heterozygotes may also show increased susceptibility to toxic effects of thiopurine treatment ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:heterozygotes may also show increased susceptibility to toxic effects of thiopurine treatment | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:heterozygous females may exhibit variable degrees of enzyme deficiency ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:heterozygous females may exhibit variable degrees of enzyme deficiency | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:heterozygous females may have situs inversus or other midline defects ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:heterozygous females may have situs inversus or other midline defects | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:high frequency of absence seizures (several per day) ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:high frequency of absence seizures (several per day) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:highly penetrant, but low morbidity ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:highly penetrant, but low morbidity | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:highly variable age at onset (range 9 to 69 years) ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:highly variable age at onset (range 9 to 69 years) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:highly variable phenotype including fluctuating phenotype ('fluctuans') or severe phenotype ('permanens') ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:highly variable phenotype including fluctuating phenotype ('fluctuans') or severe phenotype ('permanens') | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:highly variable severity and features ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:highly variable severity and features | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:hyaline inclusion ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:hyaline inclusion | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:hypothyroidism is less severe in individuals with high dietary iodine intake ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:hypothyroidism is less severe in individuals with high dietary iodine intake | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:hypotonia, generalized, severe ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:hypotonia, generalized, severe | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:hypotonia, severe, neonatal ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:hypotonia, severe, neonatal | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:impaired toe-walking ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:impaired toe-walking | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:incomplete, but high, penetrance ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:incomplete, but high, penetrance | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:increased endo- and perimysial connective tissue ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:increased endo- and perimysial connective tissue | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:increased fat and fibrous tissue ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:increased fat and fibrous tissue | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:increased fatty and connective tissue in skeletal muscle ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:increased fatty and connective tissue in skeletal muscle | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:increased fibrosis (family a) ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:increased fibrosis (family a) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:increased muscle tone (early in life) ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:increased muscle tone (early in life) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:increased risk of early death ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:increased risk of early death | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:increased variability of fiber size seen on muscle biopsy ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:increased variability of fiber size seen on muscle biopsy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:inheritance pattern is unclear ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:inheritance pattern is unclear | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:initially normal rod responses may become significantly reduced at older age ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:initially normal rod responses may become significantly reduced at older age | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:intrafamilial variability in severity of hypothyroidism ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:intrafamilial variability in severity of hypothyroidism | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:lafora bodies (accumulation of polyglucosan) seen on skeletal muscle biopsy ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:lafora bodies (accumulation of polyglucosan) seen on skeletal muscle biopsy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:late-adult onset has been reported ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:late-adult onset has been reported | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:lesions are present at birth or become apparent in infancy ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:lesions are present at birth or become apparent in infancy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:lesions increase in size and number with age ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:lesions increase in size and number with age | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:lifelong occurrence ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:lifelong occurrence | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:limb weakness, proximal followed by distal ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:limb weakness, proximal followed by distal | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:lipodystrophy (in some patients) ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:lipodystrophy (in some patients) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:loss of subcutaneous adipose tissue from gluteal region ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:loss of subcutaneous adipose tissue from gluteal region | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:loss of tumor suppressor gene ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:loss of tumor suppressor gene | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:lower limb muscle atrophy (in 2 of 3 families) ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:lower limb muscle atrophy (in 2 of 3 families) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:majority of cases have been sporadic ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:majority of cases have been sporadic | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:majority of patients are ambulatory ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:majority of patients are ambulatory | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:majority of patients have normal intelligence ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:majority of patients have normal intelligence | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:males are most severely affected, but females can also be affected ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:males are most severely affected, but females can also be affected | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:management of homocystinuria includes low methionine, cystine supplemented diet for pyridoxine nonresponders and pyridoxine supplementation for pyridoxine responders ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:management of homocystinuria includes low methionine, cystine supplemented diet for pyridoxine nonresponders and pyridoxine supplementation for pyridoxine responders | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:many patients become wheelchair-bound ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:many patients become wheelchair-bound | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:many patients lose independent mobility after 25 years ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:many patients lose independent mobility after 25 years | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:many patients require cardiac pacemakers ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:many patients require cardiac pacemakers | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:may be lethal in the neonatal period ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:may be lethal in the neonatal period | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:may show good response to levodopa ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:may show good response to levodopa | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:mean age at onset of proximal muscle weakness, 31 years ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:mean age at onset of proximal muscle weakness, 31 years | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:mean age of diagnosis 40 years ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:mean age of diagnosis 40 years | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:median onset of neurologic symptoms is 13 years (range 5 to 28) ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:median onset of neurologic symptoms is 13 years (range 5 to 28) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:megaloglossia ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:megaloglossia | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:mild variability in muscle fiber size ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:mild variability in muscle fiber size | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:mitochondrial vacuolization seen on muscle biopsy ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:mitochondrial vacuolization seen on muscle biopsy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:muscle atrophy, limb-girdle and proximal ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:muscle atrophy, limb-girdle and proximal | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:muscle atrophy, lower limbs more affected than upper limbs ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:muscle atrophy, lower limbs more affected than upper limbs | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:muscle biopsy may show deficiency of multiple mitochondrial respiratory complexes ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:muscle biopsy may show deficiency of multiple mitochondrial respiratory complexes | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:muscle biopsy shows core-like regions devoid of oxidative activity ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:muscle biopsy shows core-like regions devoid of oxidative activity | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:muscle biopsy shows dystrophic features ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:muscle biopsy shows dystrophic features | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:muscle biopsy shows dystrophic pattern ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:muscle biopsy shows dystrophic pattern | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:muscle biopsy shows nonspecific myopathic changes ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:muscle biopsy shows nonspecific myopathic changes | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:muscle pain (less common) ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:muscle pain (less common) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:muscle wasting in lower limbs ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:muscle wasting in lower limbs | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:muscle weakness (1 patient) ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:muscle weakness (1 patient) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:muscle weakness and atrophy ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:muscle weakness and atrophy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:muscle weakness due to peripheral neuropathy ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:muscle weakness due to peripheral neuropathy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:muscle weakness, distal, particularly affecting the hands ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:muscle weakness, distal, particularly affecting the hands | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:muscle weakness, lower limbs, during exercise ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:muscle weakness, lower limbs, during exercise | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:muscle weakness, proximal and distal ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:muscle weakness, proximal and distal | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:muscles have a woody consistency on palpation ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:muscles have a woody consistency on palpation | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:myalgia, episodic ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:myalgia, episodic | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:myoclonic spasms ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:myoclonic spasms | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:myokymia ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:myokymia | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:myopathic features seen on biopsy ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:myopathic features seen on biopsy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:myotonia improves with continued activity ('warm-up phenomenon') ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:myotonia improves with continued activity ('warm-up phenomenon') | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:myotonia is present in majority of cases ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:myotonia is present in majority of cases | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:noninflammatory myopathy with rimmed vacuoles and atrophic fibers seen on muscle biopsy ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:noninflammatory myopathy with rimmed vacuoles and atrophic fibers seen on muscle biopsy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:normal mitochondrial morphology (1 patient) ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:normal mitochondrial morphology (1 patient) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:one patient reported (last curated november 2012) ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:one patient reported (last curated november 2012) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:paralysis of the lower limbs (later) ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:paralysis of the lower limbs (later) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:patients achieve independent ambulation, but may lose it ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:patients achieve independent ambulation, but may lose it | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:plasma membrane discontinuities ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:plasma membrane discontinuities | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:polyglucosan accumulation ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:polyglucosan accumulation | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:poor muscle mass ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:poor muscle mass | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:premature exertional muscle weakness ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:premature exertional muscle weakness | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:preserved junctional folds ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:preserved junctional folds | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:progressive distal and proximal symmetric limb weakness ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:progressive distal and proximal symmetric limb weakness | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:protein aggregates immunopositive for actin and desmin ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:protein aggregates immunopositive for actin and desmin | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:proximal muscle weakness, upper and lower limbs, due to peripheral neuropathy, later in disease course ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:proximal muscle weakness, upper and lower limbs, due to peripheral neuropathy, later in disease course | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:ragged red fibers seen on skeletal muscle biopsy ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:ragged red fibers seen on skeletal muscle biopsy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:retain some mechanical adipose tissue (joints, orbits, palms, soles) ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:retain some mechanical adipose tissue (joints, orbits, palms, soles) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:rhabdomyolysis with exercise (in older patients) ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:rhabdomyolysis with exercise (in older patients) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:rimmed vacuoles on biopsy ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:rimmed vacuoles on biopsy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:scapular muscle atrophy ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:scapular muscle atrophy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:secondarily decreased activities of mitochondrial respiratory enzymes (in some patients) ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:secondarily decreased activities of mitochondrial respiratory enzymes (in some patients) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:shoulder girdle muscle weakness and atrophy, progressive ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:shoulder girdle muscle weakness and atrophy, progressive | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:shoulder muscle hypoplasia ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:shoulder muscle hypoplasia | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:small endplate ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:small endplate | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:small or absent axon terminals ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:small or absent axon terminals | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:soft fleshy palms (50%) ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:soft fleshy palms (50%) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:some patients may lose independent ambulation ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:some patients may lose independent ambulation | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:some patients show a favorable response to sulfonylurea treatment ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:some patients show a favorable response to sulfonylurea treatment | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:some patients show improvement during summer or with fever ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:some patients show improvement during summer or with fever | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:some patients with advanced loss of vision have normal eog ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:some patients with advanced loss of vision have normal eog | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:surviving males are postzygotic mosaic for ebp mutations ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:surviving males are postzygotic mosaic for ebp mutations | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:swelling of the affected areas ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:swelling of the affected areas | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:symmetrical muscle wasting ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:symmetrical muscle wasting | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:tendinous and tuberous xanthoma ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:tendinous and tuberous xanthoma | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:tendon tears ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:tendon tears | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:therapy is placement of implantable cardioverter defibrillator (icd) ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:therapy is placement of implantable cardioverter defibrillator (icd) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:thickening of fascia of forearm ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:thickening of fascia of forearm | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:thin filament shortening and disorganization (in some patients) ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:thin filament shortening and disorganization (in some patients) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:thyrotoxic periodic paralysis, susceptibility to, 1 ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:thyrotoxic periodic paralysis, susceptibility to, 1 | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:two unrelated patients have been reported (last curated august 2015) ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:two unrelated patients have been reported (last curated august 2015) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:type 2 muscle fiber atrophy ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:type 2 muscle fiber atrophy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:upper limb muscle hypoplasia ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:upper limb muscle hypoplasia | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:vacuoles are autophagocytic and contain granular and membranous cellular debris ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:vacuoles are autophagocytic and contain granular and membranous cellular debris | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:wasting, especially temporal, neck, and facial muscles ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:wasting, especially temporal, neck, and facial muscles | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:weak extraocular muscles ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:weak extraocular muscles | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:weakness and wasting of the lower limbs ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:weakness and wasting of the lower limbs | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:weakness of anterior compartment tibial muscles ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:weakness of anterior compartment tibial muscles | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:weakness of neck extensors (rare) ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:weakness of neck extensors (rare) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- en:weakness of neck muscles may occur later ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=en:weakness of neck muscles may occur later | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- rétinite pigmentaire et retard mental ---
r_associated #0: 29 -->
en:attacks may present during or after sleep
n1=rétinite pigmentaire et retard mental | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=29
- dégénérescence vacuolaire ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=dégénérescence vacuolaire | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:20% die before age one (usually secondary to renal or laryngeal defects) ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:20% die before age one (usually secondary to renal or laryngeal defects) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:50% of cases represent new mutations associated with advanced paternal age ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:50% of cases represent new mutations associated with advanced paternal age | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:abnormal aggregation of mitochondria ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:abnormal aggregation of mitochondria | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:abnormal mitochondria ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:abnormal mitochondria | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:abnormal mitochondrial morphology ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:abnormal mitochondrial morphology | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:accumulation of intrasarcoplasmic granulofilamentous aggregates that are immunoreactive to desmin and alpha-beta-crystallin ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:accumulation of intrasarcoplasmic granulofilamentous aggregates that are immunoreactive to desmin and alpha-beta-crystallin | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:age of onset between 5 and 10 years of age ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:age of onset between 5 and 10 years of age | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:allelic to hydropic and prenatally lethal chondrodystrophy (215140) ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:allelic to hydropic and prenatally lethal chondrodystrophy (215140) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:almost complete absence of large diameter fibers ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:almost complete absence of large diameter fibers | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:amyotrophy, distal, upper and lower limbs ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:amyotrophy, distal, upper and lower limbs | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:anasarca ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:anasarca | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:aortic dissection may occur in second decade of life ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:aortic dissection may occur in second decade of life | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:arm/shoulder muscle hypoplasia ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:arm/shoulder muscle hypoplasia | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:attacks precipitated by hypokalemia, administration of glucose or insulin, heavy carbohydrate consumption, stress, fatigue, rest after exercise ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:attacks precipitated by hypokalemia, administration of glucose or insulin, heavy carbohydrate consumption, stress, fatigue, rest after exercise | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:autophagic rimmed vacuoles ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:autophagic rimmed vacuoles | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:axial muscle weakness ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:axial muscle weakness | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:based on one jordanian family (last curated august 2015) ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:based on one jordanian family (last curated august 2015) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:based on report of 2 sibs in 2008 ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:based on report of 2 sibs in 2008 | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:blisters are precipitated by minor skin trauma ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:blisters are precipitated by minor skin trauma | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:both type 1 and type 2 fiber predominance has been reported ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:both type 1 and type 2 fiber predominance has been reported | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:calcific tendinopathy, early-onset (in some patients) ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:calcific tendinopathy, early-onset (in some patients) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:calf muscle discomfort ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:calf muscle discomfort | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:cardiac examination is usually unremarkable ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:cardiac examination is usually unremarkable | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:carrier females may have mild intellectual disability ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:carrier females may have mild intellectual disability | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:childhood or adolescent onset (usually less than 25 years) ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:childhood or adolescent onset (usually less than 25 years) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:clinically resembles essential tremor, but not responsive to beta-adrenergic blockers ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:clinically resembles essential tremor, but not responsive to beta-adrenergic blockers | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:clonidine can alleviate hyperhidrosis ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:clonidine can alleviate hyperhidrosis | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:congophilic eosinophilic inclusions ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:congophilic eosinophilic inclusions | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:cores have abrupt borders within normal regions of the muscle fiber ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:cores have abrupt borders within normal regions of the muscle fiber | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:cytochrome c oxidase-negative fibers ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:cytochrome c oxidase-negative fibers | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:cytoplasmic inclusion bodies (finding) ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:cytoplasmic inclusion bodies (finding) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:death before age 40 ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:death before age 40 | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:death usually in childhood ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:death usually in childhood | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:decreased activity of cytochrome c oxidase (in most cases) ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:decreased activity of cytochrome c oxidase (in most cases) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:decreased activity of mitochondrial complex i ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:decreased activity of mitochondrial complex i | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:decreased distal reflexes ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:decreased distal reflexes | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:decreased glycosylation of alpha-dystroglycan ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:decreased glycosylation of alpha-dystroglycan | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:decreased glycosylation of alpha-dystroglycan seen on muscle biopsy ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:decreased glycosylation of alpha-dystroglycan seen on muscle biopsy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:decreased muscle mass ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:decreased muscle mass | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:decreased spontaneous miniature endplate potentials (mepp) ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:decreased spontaneous miniature endplate potentials (mepp) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:decremental compound muscle action potential (cmap) in response to repetitive nerve stimulation seen on emg ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:decremental compound muscle action potential (cmap) in response to repetitive nerve stimulation seen on emg | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:decremental compound muscle action potential on repetitive stimulation ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:decremental compound muscle action potential on repetitive stimulation | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:defect in glycosylation of alpha-dystroglycan seen on skeletal muscle biopsy ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:defect in glycosylation of alpha-dystroglycan seen on skeletal muscle biopsy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:degeneration of junctional folds ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:degeneration of junctional folds | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:difficulty rising from a squatting position ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:difficulty rising from a squatting position | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:difficulty running or inability to run ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:difficulty running or inability to run | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:distal leg muscle atrophy ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:distal leg muscle atrophy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:distal limb muscle atrophy, lower more than upper ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:distal limb muscle atrophy, lower more than upper | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:distal lower limb amyotrophy ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:distal lower limb amyotrophy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:distal lower limb anterior compartment weakness ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:distal lower limb anterior compartment weakness | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:distal muscle atrophy, predominantly lower limbs ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:distal muscle atrophy, predominantly lower limbs | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:distal muscle weakness and atrophy of upper and lower limbs due to peripheral neuropathy ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:distal muscle weakness and atrophy of upper and lower limbs due to peripheral neuropathy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:distal muscle weakness occurs later ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:distal muscle weakness occurs later | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:distal muscle weakness, predominantly lower limbs ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:distal muscle weakness, predominantly lower limbs | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:dwarfism not detectable at birth ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:dwarfism not detectable at birth | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:dysmorphic facial features reported in 1 family ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:dysmorphic facial features reported in 1 family | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:dystrophic changes may be present ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:dystrophic changes may be present | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:dystrophic changes on biopsy ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:dystrophic changes on biopsy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:earlier onset is associated with more rapid progression ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:earlier onset is associated with more rapid progression | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:early death (in some patients) ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:early death (in some patients) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:early death (usually by 3 years of age) ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:early death (usually by 3 years of age) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:early death may occur ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:early death may occur | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:electron microscopy shows subsarcolemmal accumulations of abnormally shaped mitochondria ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:electron microscopy shows subsarcolemmal accumulations of abnormally shaped mitochondria | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:enlarged mitochondria ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:enlarged mitochondria | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:enteroviral dermatomyositis syndrome ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:enteroviral dermatomyositis syndrome | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:excessive postsurgical blood loss ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:excessive postsurgical blood loss | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:exercise intolerance (less common) ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:exercise intolerance (less common) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:family a had a severe multisystem disorder resulting in death before age 2 years ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:family a had a severe multisystem disorder resulting in death before age 2 years | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:fat pads on the hands and feet ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:fat pads on the hands and feet | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:favorable response to 3,4-diaminopyridine ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:favorable response to 3,4-diaminopyridine | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:features are variable ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:features are variable | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:fibromyalgia ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:fibromyalgia | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:flaccid weakness or paralysis, episodic attacks ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:flaccid weakness or paralysis, episodic attacks | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:gait unsteady ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:gait unsteady | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:generalized muscle wasting ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:generalized muscle wasting | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:genetic heterogeneity (see mcc1 deficiency 210200) ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:genetic heterogeneity (see mcc1 deficiency 210200) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:glucocorticoid deficiency occurs in mid-childhood ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:glucocorticoid deficiency occurs in mid-childhood | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:glycogen deficiency in muscle fibers ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:glycogen deficiency in muscle fibers | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:gowers sign (in some patients) ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:gowers sign (in some patients) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:hand and foot weakness ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:hand and foot weakness | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:hang weakness ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:hang weakness | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:hangrip myotonia ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:hangrip myotonia | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:heterozygous mutation carriers may have late-onset of mild symptoms ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:heterozygous mutation carriers may have late-onset of mild symptoms | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:high pain threshold ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:high pain threshold | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:high recurrence rate ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:high recurrence rate | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:highly variable phenotype and severity ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:highly variable phenotype and severity | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:highly variable severity, ranging from death in utero to survival to adulthood with normal intelligence ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:highly variable severity, ranging from death in utero to survival to adulthood with normal intelligence | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:hip girdle muscle atrophy ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:hip girdle muscle atrophy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:hypertonicity (uncommon) ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:hypertonicity (uncommon) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:hyporeflexia in affected muscles ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:hyporeflexia in affected muscles | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:hypotonia (untreated hypothyroidism) ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:hypotonia (untreated hypothyroidism) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:hypotrophy of type 1 fibers ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:hypotrophy of type 1 fibers | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:improvement with age ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:improvement with age | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:inability to jump or squat ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:inability to jump or squat | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:inability to sit or hold head up ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:inability to sit or hold head up | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:incidence 1/100,000 - 1/200,000 live births ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:incidence 1/100,000 - 1/200,000 live births | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:incomplete penetrance ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:incomplete penetrance | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:incomplete penetrance in carrier females ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:incomplete penetrance in carrier females | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:increased aneuploidy in offspring ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:increased aneuploidy in offspring | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:increased connective tissue (in some patients) ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:increased connective tissue (in some patients) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:increased focal mitochondrial density ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:increased focal mitochondrial density | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:increased incidence in asian countries (e.g., 1.46 per 10,000 live births in taiwan) ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:increased incidence in asian countries (e.g., 1.46 per 10,000 live births in taiwan) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:increased length of endplate regions seen on muscle biopsy ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:increased length of endplate regions seen on muscle biopsy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:increased muscle lipid content ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:increased muscle lipid content | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:increased numbers of type 1 fibers ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:increased numbers of type 1 fibers | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:internal organ rupture may occur ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:internal organ rupture may occur | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:joint symptoms begin in third or fourth decade ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:joint symptoms begin in third or fourth decade | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:juvenile onset 4 years to puberty ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:juvenile onset 4 years to puberty | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:l-dopa-induced dyskinesias ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:l-dopa-induced dyskinesias | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:later onset (late childhood to young adult) has been reported ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:later onset (late childhood to young adult) has been reported | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:later onset of hearing loss in some patients ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:later onset of hearing loss in some patients | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:left side involvement more frequent than right side involvement ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:left side involvement more frequent than right side involvement | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:lethal in males ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:lethal in males | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:limb muscle weakness, proximal, upper and lower ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:limb muscle weakness, proximal, upper and lower | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:limb weakness and atrophy ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:limb weakness and atrophy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:lipoatrophy of trunk ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:lipoatrophy of trunk | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:loss of independent ambulation around age 12 years ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:loss of independent ambulation around age 12 years | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:loss of sarcomeric striations ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:loss of sarcomeric striations | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:lower limb muscle weakness (in 2 of 3 families) ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:lower limb muscle weakness (in 2 of 3 families) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:lower limb weakness is presenting feature ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:lower limb weakness is presenting feature | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:lymphedema (lower limb) ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:lymphedema (lower limb) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:major fluid shifts may occur in severe cases ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:major fluid shifts may occur in severe cases | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:marked intrafamilial variability of clinical features ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:marked intrafamilial variability of clinical features | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:maternal anticipation bias ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:maternal anticipation bias | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:may manifest as late-onset 'parkinsonian' phenotype without severe ataxic features ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:may manifest as late-onset 'parkinsonian' phenotype without severe ataxic features | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:mean age at onset 66.8 years (range 47-77) ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:mean age at onset 66.8 years (range 47-77) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:mean age at onset of hypoglycemia may be delayed (median, 9 months, diagnosis sometimes made in adulthood) ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:mean age at onset of hypoglycemia may be delayed (median, 9 months, diagnosis sometimes made in adulthood) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:mean age of diagnosis of renal cell carcinoma is 46 years ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:mean age of diagnosis of renal cell carcinoma is 46 years | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:mean age of onset 22 years (range 5-54) ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:mean age of onset 22 years (range 5-54) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:mean age of onset 30 years (range 25-42) ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:mean age of onset 30 years (range 25-42) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:mean age of presentation of renal cancer is 50 years, but earlier onset has been reported ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:mean age of presentation of renal cancer is 50 years, but earlier onset has been reported | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:metabolic encephalomyopathic crises often triggered by infection ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:metabolic encephalomyopathic crises often triggered by infection | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:mild endplate myopathy ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:mild endplate myopathy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:mitochondrial paracrystalline inclusion bodies ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:mitochondrial paracrystalline inclusion bodies | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:muscle atrophy, mild, more proximal than distal ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:muscle atrophy, mild, more proximal than distal | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:muscle biopsy shows atrophic fibers ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:muscle biopsy shows atrophic fibers | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:muscle biopsy shows disruption of the sarcolemmal membrane ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:muscle biopsy shows disruption of the sarcolemmal membrane | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:muscle biopsy shows glycogen storage ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:muscle biopsy shows glycogen storage | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:muscle biopsy shows increased variation in fiber size ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:muscle biopsy shows increased variation in fiber size | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:muscle biopsy shows myofibrillar disruption ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:muscle biopsy shows myofibrillar disruption | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:muscle biopsy shows necrotic and regenerating fibers ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:muscle biopsy shows necrotic and regenerating fibers | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:muscle biopsy shows neurogenic atrophy (1 patient) ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:muscle biopsy shows neurogenic atrophy (1 patient) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:muscle biopsy shows ragged red fibers ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:muscle biopsy shows ragged red fibers | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:muscle cramps (also seen in some heterozygotes) ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:muscle cramps (also seen in some heterozygotes) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:muscle cramps may affect jaw muscles ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:muscle cramps may affect jaw muscles | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:muscle fatigability ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:muscle fatigability | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:muscle fiber necrosis ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:muscle fiber necrosis | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:muscle fiber splitting and fibrosis seen on muscle biopsy ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:muscle fiber splitting and fibrosis seen on muscle biopsy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:muscle hyperirritability ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:muscle hyperirritability | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:muscle pain and cramping on exertion ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:muscle pain and cramping on exertion | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:muscle wasting due to chronic denervation ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:muscle wasting due to chronic denervation | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:muscle weakness (hcs) ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:muscle weakness (hcs) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:muscle weakness in forearm muscles ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:muscle weakness in forearm muscles | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:muscle weakness, congenital ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:muscle weakness, congenital | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:muscle weakness, primarily proximal ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:muscle weakness, primarily proximal | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:muscle weakness, severe, diffuse ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:muscle weakness, severe, diffuse | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:muscles become hard and tender during exercise ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:muscles become hard and tender during exercise | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:myogenic profile on electromyography ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:myogenic profile on electromyography | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:myopathic findings on biopsy have been occasionally reported ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:myopathic findings on biopsy have been occasionally reported | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:myopathy (in some patients) ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:myopathy (in some patients) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:no muscle fiber necrosis ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:no muscle fiber necrosis | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:no myofibrillar abnormalities or protein aggregation ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:no myofibrillar abnormalities or protein aggregation | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:normal dystrophin immunostaining ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:normal dystrophin immunostaining | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:ophthalmoplegia ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:ophthalmoplegia | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:pain or cramping during sustained manual activity ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:pain or cramping during sustained manual activity | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:patients with homozygous, compound heterozygous, and heterozygous mutation have been reported ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:patients with homozygous, compound heterozygous, and heterozygous mutation have been reported | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:pectoralis muscles may be less involved, leading to inward shrugging posture ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:pectoralis muscles may be less involved, leading to inward shrugging posture | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:pelvic girdle weakness and atrophy ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:pelvic girdle weakness and atrophy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:plaques immunoreactive for desmin and alpha-beta-crystallin ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:plaques immunoreactive for desmin and alpha-beta-crystallin | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:possible x-linked dominant inheritance ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:possible x-linked dominant inheritance | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:progressive proximal muscle weakness ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:progressive proximal muscle weakness | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:proximal and distal muscle atrophy in lower limbs ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:proximal and distal muscle atrophy in lower limbs | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:proximal upper limb amyotrophy ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:proximal upper limb amyotrophy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:quadriceps atrophy (later onset) ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:quadriceps atrophy (later onset) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:ragged red fibers (in some patients) ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:ragged red fibers (in some patients) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:redundancy of basal lamina with accumulated debris ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:redundancy of basal lamina with accumulated debris | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:retinal holes were present in an asymptomatic female carrier ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:retinal holes were present in an asymptomatic female carrier | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:rigidity (uncommon) ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:rigidity (uncommon) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:sarcoplasmic inclusions ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:sarcoplasmic inclusions | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:scattered necrotic fibers ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:scattered necrotic fibers | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:severe muscle hypotonia at birth ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:severe muscle hypotonia at birth | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:sexual infantilism ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:sexual infantilism | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:small placenta ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:small placenta | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:sparing of the anterior tibial compartment ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:sparing of the anterior tibial compartment | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:syncope ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:syncope | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:thenar eminence hypoplasia ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:thenar eminence hypoplasia | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:three unrelated patients have been reported (last curated december 2015) ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:three unrelated patients have been reported (last curated december 2015) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:toe-walking gait ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:toe-walking gait | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:tremor of the upper limb ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:tremor of the upper limb | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:tubular aggregates mainly in type 1 fibers ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:tubular aggregates mainly in type 1 fibers | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:tubulofilamentous inclusions ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:tubulofilamentous inclusions | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:tumor suppressor gene ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:tumor suppressor gene | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:type 1 fiber predominance ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:type 1 fiber predominance | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:type 2 muscle fiber predominance ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:type 2 muscle fiber predominance | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:upper and/or lower limbs may be affected ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:upper and/or lower limbs may be affected | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:upper arm and pelvic muscle weakness and atrophy (later onset) ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:upper arm and pelvic muscle weakness and atrophy (later onset) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:upper limb involvement and distal muscle involvement may occur later in disease course (often by second decade) ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:upper limb involvement and distal muscle involvement may occur later in disease course (often by second decade) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:wasted lower leg muscles ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:wasted lower leg muscles | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:weakness of the muscles in the anterior compartment of the lower leg (particularly the tibialis anterior muscle) ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:weakness of the muscles in the anterior compartment of the lower leg (particularly the tibialis anterior muscle) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:z-disks with abnormal homogeneous material ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=en:z-disks with abnormal homogeneous material | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- rétinite pigmentaire liée au sexe récessive 3 ---
r_associated #0: 28 -->
en:attacks may present during or after sleep
n1=rétinite pigmentaire liée au sexe récessive 3 | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=28
- en:a subset of patients develop bilateral weakness ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:a subset of patients develop bilateral weakness | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:abnormal axons with sprouting and swelling ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:abnormal axons with sprouting and swelling | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:abnormal fat accumulation in the back (in some patients) ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:abnormal fat accumulation in the back (in some patients) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:absence of some scapular muscles (less common) ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:absence of some scapular muscles (less common) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:adipose tissue shows many adipocytes with multiple small lipid droplets rather than a normal single lipid droplet ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:adipose tissue shows many adipocytes with multiple small lipid droplets rather than a normal single lipid droplet | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:affected individuals may have more than 1 cardiac structural defect, or none at all ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:affected individuals may have more than 1 cardiac structural defect, or none at all | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:age at onset 8 to 55 years (mean 40 years) ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:age at onset 8 to 55 years (mean 40 years) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:age at onset from 3 to 51 years (mean 19.2 years) ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:age at onset from 3 to 51 years (mean 19.2 years) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:age of onset/diagnosis 12-35 years ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:age of onset/diagnosis 12-35 years | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:all features are unilateral ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:all features are unilateral | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:amyotrophy of the upper limbs (in some patients) ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:amyotrophy of the upper limbs (in some patients) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:apoptotic nuclei ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:apoptotic nuclei | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:associated with smoking ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:associated with smoking | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:average age at diagnosis 17.8 years (range 2-35 years) ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:average age at diagnosis 17.8 years (range 2-35 years) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:axial hypotonia (in some patients) ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:axial hypotonia (in some patients) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:calf atrophy (later onset) ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:calf atrophy (later onset) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:calf hypertrophy (reported in 1 family) ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:calf hypertrophy (reported in 1 family) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:calf muscle hypertrophy ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:calf muscle hypertrophy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:calf muscle hypoplasia ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:calf muscle hypoplasia | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:caused by somatic mutations ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:caused by somatic mutations | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:centralized nuclei may be seen ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:centralized nuclei may be seen | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:chronic denervation seen on skeletal muscle biopsy ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:chronic denervation seen on skeletal muscle biopsy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:cold-induced sweating develops late in the first decade ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:cold-induced sweating develops late in the first decade | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:cutaneous symptoms induced by cold exposure or cooling ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:cutaneous symptoms induced by cold exposure or cooling | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:death in infancy in 2 patients ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:death in infancy in 2 patients | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:death often in the teenage years ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:death often in the teenage years | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:death usually in infancy due to respiratory failure ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:death usually in infancy due to respiratory failure | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:death usually in newborn period or infancy ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:death usually in newborn period or infancy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:decreased numbers of achr seen on muscle biopsy ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:decreased numbers of achr seen on muscle biopsy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:decreased quantal release ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:decreased quantal release | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:degenerating fibers ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:degenerating fibers | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:deltoid muscle hypoplasia ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:deltoid muscle hypoplasia | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:denervation of skeletal muscles ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:denervation of skeletal muscles | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:diagnosis within the first 3 months of life ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:diagnosis within the first 3 months of life | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:disorganization of the myofibrillar pattern ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:disorganization of the myofibrillar pattern | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:distal limb muscle atrophy due to peripheral neuropathy (lower limbs are more affected than upper limbs) ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:distal limb muscle atrophy due to peripheral neuropathy (lower limbs are more affected than upper limbs) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:distal limb muscle weakness and atrophy ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:distal limb muscle weakness and atrophy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:distal lower limb muscle weakness ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:distal lower limb muscle weakness | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:distal muscle weakness and atrophy, upper and lower limbs ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:distal muscle weakness and atrophy, upper and lower limbs | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:distal myopathy (in 1 family) ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:distal myopathy (in 1 family) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:dramatic improvement with proper treatment ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:dramatic improvement with proper treatment | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:early adult onset has been reported ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:early adult onset has been reported | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:easy bruisability of lower extremities ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:easy bruisability of lower extremities | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:easy fatigability with exercise ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:easy fatigability with exercise | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:endplate myopathy ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:endplate myopathy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:episodes are triggered by cold exposure ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:episodes are triggered by cold exposure | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:episodes brought on by fasting or infection ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:episodes brought on by fasting or infection | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:episodic, nonerythematous, nonpruritic, nontender edema, episodic ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:episodic, nonerythematous, nonpruritic, nontender edema, episodic | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:estimated incidence of 1-2 in 10,000 ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:estimated incidence of 1-2 in 10,000 | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:exacerbated by stress ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:exacerbated by stress | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:exercise-induced muscle fatigue ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:exercise-induced muscle fatigue | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:female carriers may have asymptomatic hypercalciuria or hypophosphatemia only ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:female carriers may have asymptomatic hypercalciuria or hypophosphatemia only | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:fiber size variation ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:fiber size variation | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:four separate types - (1) severe perinatal ('lethal') form, (2) severe infantile form, (3) childhood form, and (4) adult form ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:four separate types - (1) severe perinatal ('lethal') form, (2) severe infantile form, (3) childhood form, and (4) adult form | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:four unrelated families have been reported (last curated august 2015) ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:four unrelated families have been reported (last curated august 2015) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:gait disturbance ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:gait disturbance | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:gastrocnemius and soleus muscles most affected ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:gastrocnemius and soleus muscles most affected | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:generalized hypotonia ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:generalized hypotonia | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:generalized muscle weakness (less common) ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:generalized muscle weakness (less common) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:gradual progression ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:gradual progression | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:hamstring and quadriceps muscles mildly affected ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:hamstring and quadriceps muscles mildly affected | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:hematomas, recurrent large subcutaneous ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:hematomas, recurrent large subcutaneous | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:heterotopic bone formation in subcutaneous fat ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:heterotopic bone formation in subcutaneous fat | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:heterozygous carriers have blue sclerae, small joint hypermobility, and mild thinning of cornea ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:heterozygous carriers have blue sclerae, small joint hypermobility, and mild thinning of cornea | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:highly variable phenotype, even within families ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:highly variable phenotype, even within families | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:hypersensitivity to ionizing radiation ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:hypersensitivity to ionizing radiation | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:hypertrophy of the extensor digitorum brevis muscles ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:hypertrophy of the extensor digitorum brevis muscles | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:imaging shows muscle atrophy and fatty replacement ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:imaging shows muscle atrophy and fatty replacement | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:impaired heel-walking ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:impaired heel-walking | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:incidence 1 in 8,000 live births ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:incidence 1 in 8,000 live births | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:increased glycogen in muscle ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:increased glycogen in muscle | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:increased internal nuclei ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:increased internal nuclei | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:increased lipid ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:increased lipid | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:increased perisarcolemmal calcium deposition ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:increased perisarcolemmal calcium deposition | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:increased risk of developing early-onset aggressive cancers ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:increased risk of developing early-onset aggressive cancers | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:infantile form accounts for 90% of cases ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:infantile form accounts for 90% of cases | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:inflammatory bowel disease may develop in childhood or adolescence ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:inflammatory bowel disease may develop in childhood or adolescence | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:interfamilial and intrafamilial clinical heterogeneity ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:interfamilial and intrafamilial clinical heterogeneity | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:intrafamilial variability in nail changes ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:intrafamilial variability in nail changes | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:ketogenic diet may be effective ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:ketogenic diet may be effective | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:lack of treatment results in early death ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:lack of treatment results in early death | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:late-adult onset (fifth to sixth decade) ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:late-adult onset (fifth to sixth decade) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:later onset of neurologic features ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:later onset of neurologic features | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:less than 20% have onset at 18 years of age or less (dominant and recessive) ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:less than 20% have onset at 18 years of age or less (dominant and recessive) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:levodopa-induced dyskinesias ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:levodopa-induced dyskinesias | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:lifetime risk of breast cancer in mutation carriers is 60 to 85% ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:lifetime risk of breast cancer in mutation carriers is 60 to 85% | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:limb-girdle muscle atrophy ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:limb-girdle muscle atrophy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:lipid and glycogen accumulation ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:lipid and glycogen accumulation | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:lipoatrophic appearance ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:lipoatrophic appearance | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:liver disease may be the most predominant finding ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:liver disease may be the most predominant finding | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:long headache duration (greater than 12 hours) ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:long headache duration (greater than 12 hours) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:loss of ambulation ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:loss of ambulation | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:loss of gluteal adipose tissue ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:loss of gluteal adipose tissue | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:loss of subcutaneous fat, particularly affecting the limbs ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:loss of subcutaneous fat, particularly affecting the limbs | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:lower limb muscle hypotrophy ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:lower limb muscle hypotrophy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:lymphedema of the lower limbs (swelling is confined to below the knees) ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:lymphedema of the lower limbs (swelling is confined to below the knees) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:lymphedema of upper and/or lower limbs (in some patients) ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:lymphedema of upper and/or lower limbs (in some patients) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:lymphography shows hypoplasia of lymphatic vessels ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:lymphography shows hypoplasia of lymphatic vessels | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:lymphoscintigraphy shows impaired lymphatic uptake and drainage ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:lymphoscintigraphy shows impaired lymphatic uptake and drainage | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:male predominance of 3:1 to 5:1 ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:male predominance of 3:1 to 5:1 | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:manifests in infancy (including neonatal lethal) or childhood ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:manifests in infancy (including neonatal lethal) or childhood | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:many features are present only in an untreated patient ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:many features are present only in an untreated patient | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:may be triggered by minor head trauma ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:may be triggered by minor head trauma | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:may result in early death from severe diarrhea ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:may result in early death from severe diarrhea | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:mean age at onset of bone fractures, 24 years ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:mean age at onset of bone fractures, 24 years | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:mean age of onset 20.6 years ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:mean age of onset 20.6 years | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:median age at diagnosis, 59 years ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:median age at diagnosis, 59 years | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:mild atrophy of the proximal lower limbs ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:mild atrophy of the proximal lower limbs | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:mild distal muscle atrophy ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:mild distal muscle atrophy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:mildly decreased cytochrome c oxidase activity ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:mildly decreased cytochrome c oxidase activity | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:mildly increased mtdna ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:mildly increased mtdna | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:minimal subcutaneous fat ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:minimal subcutaneous fat | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:motor clumsiness ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:motor clumsiness | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:muscle atrophy (in some patients) ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:muscle atrophy (in some patients) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:muscle atrophy, diffuse, severe ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:muscle atrophy, diffuse, severe | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:muscle atrophy, especially quadriceps and forearm muscles ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:muscle atrophy, especially quadriceps and forearm muscles | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:muscle atrophy, primarily in the legs ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:muscle atrophy, primarily in the legs | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:muscle atrophy, progressive ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:muscle atrophy, progressive | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:muscle atrophy, upper and lower limbs ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:muscle atrophy, upper and lower limbs | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:muscle biopsy shows abnormal fiber size and variation ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:muscle biopsy shows abnormal fiber size and variation | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:muscle biopsy shows decrease or absence of cytochrome c oxidase ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:muscle biopsy shows decrease or absence of cytochrome c oxidase | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:muscle biopsy shows degenerating endplates and junctional folds ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:muscle biopsy shows degenerating endplates and junctional folds | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:muscle biopsy shows loss of type 2a fibers ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:muscle biopsy shows loss of type 2a fibers | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:muscle biopsy shows mild dystrophic changes ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:muscle biopsy shows mild dystrophic changes | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:muscle biopsy shows myofibrillar myopathy ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:muscle biopsy shows myofibrillar myopathy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:muscle biopsy shows small rounded fibers ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:muscle biopsy shows small rounded fibers | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:muscle fiber regeneration ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:muscle fiber regeneration | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:muscle fibers appear as fetal myotubules ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:muscle fibers appear as fetal myotubules | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:muscle hypertrophy in affected area ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:muscle hypertrophy in affected area | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:muscle wasting (especially legs and arms) ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:muscle wasting (especially legs and arms) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:muscle weakness (in some patients) ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:muscle weakness (in some patients) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:muscle weakness and atrophy may be asymmetric ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:muscle weakness and atrophy may be asymmetric | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:muscle weakness of the face and neck, mild to moderate ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:muscle weakness of the face and neck, mild to moderate | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:muscle weakness, limb-girdle (lower and upper limbs may be affected) ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:muscle weakness, limb-girdle (lower and upper limbs may be affected) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:muscle weakness, mild, proximal and distal ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:muscle weakness, mild, proximal and distal | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:muscle weakness, proximal and distal, affecting upper and lower limbs ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:muscle weakness, proximal and distal, affecting upper and lower limbs | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:muscle weakness, upper and lower limbs ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:muscle weakness, upper and lower limbs | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:muscles do not contract upon electrical stimulation ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:muscles do not contract upon electrical stimulation | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:muscular appearance ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:muscular appearance | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:muscular dystrophy (in some patients) ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:muscular dystrophy (in some patients) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:myofibromatosis ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:myofibromatosis | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:myopathic changes seen on biopsy ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:myopathic changes seen on biopsy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:myopathy, mild to severe ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:myopathy, mild to severe | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:myotonia (usually occurs during rapid voluntary muscle movements after a period of rest) ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:myotonia (usually occurs during rapid voluntary muscle movements after a period of rest) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:neck and proximal limb muscle myopathy ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:neck and proximal limb muscle myopathy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:neck muscle weakness ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:neck muscle weakness | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:necrotic fibers ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:necrotic fibers | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:neurogenic atrophy of muscle fibers seen on biopsy (in some patients) ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:neurogenic atrophy of muscle fibers seen on biopsy (in some patients) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:neurogenic changes ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:neurogenic changes | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:neuropathic process seen on muscle biopsy ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:neuropathic process seen on muscle biopsy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:non-pitting edema ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:non-pitting edema | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:onset of lymphedema around puberty ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:onset of lymphedema around puberty | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:painful swelling in aponeuroses ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:painful swelling in aponeuroses | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:plantar fibromatosis ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:plantar fibromatosis | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:poor exercise tolerance ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:poor exercise tolerance | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:poor muscle bulk ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:poor muscle bulk | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:progressive interictal weakness is common ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:progressive interictal weakness is common | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:prominent involvement of the biceps brachii muscles ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:prominent involvement of the biceps brachii muscles | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:prominent veins, lower limbs ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:prominent veins, lower limbs | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:proximal muscle atrophy (in some patients) ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:proximal muscle atrophy (in some patients) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:proximal muscle weakness (120270.0002) ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:proximal muscle weakness (120270.0002) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:proximal muscle weakness and atrophy (may occur later) ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:proximal muscle weakness and atrophy (may occur later) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:proximal muscle weakness, lower limbs, mild ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:proximal muscle weakness, lower limbs, mild | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:quadriceps muscle spared ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:quadriceps muscle spared | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:reduced muscle tone ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:reduced muscle tone | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:relative sparing of the rectus femoris ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:relative sparing of the rectus femoris | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:respiratory distress (congenital form) ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:respiratory distress (congenital form) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:respiratory muscles may be involved (more common in juvenile-onset) ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:respiratory muscles may be involved (more common in juvenile-onset) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:retroperitoneal fibrosis (rare) ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:retroperitoneal fibrosis (rare) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:rimmed vacuoles ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:rimmed vacuoles | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:secondary myopathic features ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:secondary myopathic features | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:short survival (less than 10 years after onset) ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:short survival (less than 10 years after onset) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:shoulder weakness ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:shoulder weakness | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:skeletal muscle biopsy shows impaired respiratory oxidation ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:skeletal muscle biopsy shows impaired respiratory oxidation | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:skewed x-inactivation, with complete skewing in some individuals ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:skewed x-inactivation, with complete skewing in some individuals | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:some patients may show a favorable response to oral coenzyme q10 supplementation ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:some patients may show a favorable response to oral coenzyme q10 supplementation | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:subtype 3a comprises myoclonus and dementia ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:subtype 3a comprises myoclonus and dementia | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:symptoms are progressive for a few years, and then become stationary ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:symptoms are progressive for a few years, and then become stationary | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:symptoms present from infancy or early childhood ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:symptoms present from infancy or early childhood | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:thickened subcutaneous tissue ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:thickened subcutaneous tissue | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:thickening of the fascial structures of the palm and fingers ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:thickening of the fascial structures of the palm and fingers | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:three fetuses from 1 family have been reported (last curated august 2015) ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:three fetuses from 1 family have been reported (last curated august 2015) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:three unrelated consanguineous families (libyan, egyptian, and pakistani origin) have been reported (last curated july 2015) ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:three unrelated consanguineous families (libyan, egyptian, and pakistani origin) have been reported (last curated july 2015) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:two unrelated families have been reported (last curated june 2015) ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:two unrelated families have been reported (last curated june 2015) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:type 1 fiber atrophy ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:type 1 fiber atrophy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:variable age at onset (late childhood to adult) ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:variable age at onset (late childhood to adult) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:variable severity of clinical and radiologic manifestations ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:variable severity of clinical and radiologic manifestations | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:water thesaurismosis ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:water thesaurismosis | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:wheelchair dependency in 20% of patients by age 40 ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=en:wheelchair dependency in 20% of patients by age 40 | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- rétinite pigmentaire, surdité, retard mental, et hypogonadisme ---
r_associated #0: 27 -->
en:attacks may present during or after sleep
n1=rétinite pigmentaire, surdité, retard mental, et hypogonadisme | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=27
- en:abdominal wall muscle weakness (later onset) ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:abdominal wall muscle weakness (later onset) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:abnormal fatigue ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:abnormal fatigue | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:abnormal sarcoplasmic reticulum elements ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:abnormal sarcoplasmic reticulum elements | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:absence seizures show onset between 3.5 and 4 years ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:absence seizures show onset between 3.5 and 4 years | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:adhalin deficiency seen on muscle biopsy ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:adhalin deficiency seen on muscle biopsy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:age at diagnosis 24 +/- 18 years for dominant disease ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:age at diagnosis 24 +/- 18 years for dominant disease | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:age of onset varies ranging from 3 weeks to 22 years ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:age of onset varies ranging from 3 weeks to 22 years | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:allelic disorder to benign hereditary chorea (118700), which is less severe ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:allelic disorder to benign hereditary chorea (118700), which is less severe | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:amyloid deposition in muscle fibers occurs rarely ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:amyloid deposition in muscle fibers occurs rarely | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:amyotrophy of the lower limbs (in some patients) ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:amyotrophy of the lower limbs (in some patients) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:and proeminent incisors ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:and proeminent incisors | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:approximately 70-80% of cases are de novo and sporadic ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:approximately 70-80% of cases are de novo and sporadic | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:associated with advanced paternal age ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:associated with advanced paternal age | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:associated with increased frequency of autoimmune diseases ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:associated with increased frequency of autoimmune diseases | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:ataxia is nonprogressive ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:ataxia is nonprogressive | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:atrophic calf muscles ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:atrophic calf muscles | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:atrophic muscle fiber on biopsy ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:atrophic muscle fiber on biopsy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:autosomal recessive disorder tends to be more severe ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:autosomal recessive disorder tends to be more severe | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:average disease duration of 7 years ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:average disease duration of 7 years | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:average onset 6-10 months (range 3-24) ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:average onset 6-10 months (range 3-24) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:based on a report of 4 patients from 2 consanguineous families (last curated august 2015) ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:based on a report of 4 patients from 2 consanguineous families (last curated august 2015) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:biopsy shows nonspecific myopathy without rimmed vacuoles ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:biopsy shows nonspecific myopathy without rimmed vacuoles | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:both mutations occurred de novo ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:both mutations occurred de novo | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:breech presentation ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:breech presentation | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:by fourth decade, many patients need help with ambulation ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:by fourth decade, many patients need help with ambulation | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:central cores seen on muscle biopsy ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:central cores seen on muscle biopsy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:centrally located nuclei seen on muscle biopsy ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:centrally located nuclei seen on muscle biopsy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:chronic course with exacerbations and remissions ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:chronic course with exacerbations and remissions | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:clinical variability, both pure and complicated forms ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:clinical variability, both pure and complicated forms | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:combined mitochondrial respiratory chain deficiency (in most patients) ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:combined mitochondrial respiratory chain deficiency (in most patients) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:congophilic deposits ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:congophilic deposits | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:death due to respiratory insufficiency within minutes to hours after birth ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:death due to respiratory insufficiency within minutes to hours after birth | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:death from pneumonia ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:death from pneumonia | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:decreased caveolin-3 expression on muscle biopsy ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:decreased caveolin-3 expression on muscle biopsy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:decreased glutamate oxidation (about 63% of normal) ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:decreased glutamate oxidation (about 63% of normal) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:decreased hand grip strength ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:decreased hand grip strength | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:decreased muscle density on imaging ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:decreased muscle density on imaging | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:dense membranous structure surrounding nuclei on electron microscopy ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:dense membranous structure surrounding nuclei on electron microscopy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:difficulty in toe walking ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:difficulty in toe walking | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:difficulty rising from chair ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:difficulty rising from chair | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:discordant phenotype among monozygotic twins has been reported ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:discordant phenotype among monozygotic twins has been reported | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:distal muscle atrophy due to neurologic disease ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:distal muscle atrophy due to neurologic disease | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:distal muscle atrophy, affecting the lower limbs ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:distal muscle atrophy, affecting the lower limbs | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:distal muscle weakness due to peripheral neuropathy, lower limbs more affected than upper limbs ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:distal muscle weakness due to peripheral neuropathy, lower limbs more affected than upper limbs | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:distal muscle weakness, lower legs ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:distal muscle weakness, lower legs | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:diurnal fluctuation of neurologic symptoms ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:diurnal fluctuation of neurologic symptoms | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:divided into isolated cases (75-80%), familial (10-15%), and syndromal (1-5%) ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:divided into isolated cases (75-80%), familial (10-15%), and syndromal (1-5%) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:dystrophic changes ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:dystrophic changes | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:dystrophic changes, mild, seen on muscle biopsy ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:dystrophic changes, mild, seen on muscle biopsy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:edema limbs ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:edema limbs | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:enlarged nuclei with central pallor ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:enlarged nuclei with central pallor | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:eosinophilic inclusions ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:eosinophilic inclusions | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:episodic weakness may or may not occur independent of myotonia ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:episodic weakness may or may not occur independent of myotonia | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:estimated frequence 1/3000 to 1/5000 ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:estimated frequence 1/3000 to 1/5000 | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:estimated frequency 1/2000-1/4000 individuals ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:estimated frequency 1/2000-1/4000 individuals | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:exercise intolerance (also seen in some heterozygotes) ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:exercise intolerance (also seen in some heterozygotes) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:exercise-induced myalgia ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:exercise-induced myalgia | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:exertional leg pain ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:exertional leg pain | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:fat accumulation in the suprabuttock area ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:fat accumulation in the suprabuttock area | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:fat droplets in sarcoplasm and mitochondria seen on skeletal muscle biopsy ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:fat droplets in sarcoplasm and mitochondria seen on skeletal muscle biopsy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:fatal in first few months of life in most cases ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:fatal in first few months of life in most cases | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:fiber necrosis ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:fiber necrosis | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:fishy body odor ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:fishy body odor | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:foot deformities are present in infancy or childhood ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:foot deformities are present in infancy or childhood | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:fractures decrease after puberty but increase after menopause ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:fractures decrease after puberty but increase after menopause | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:generalized muscle weakness, severe ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:generalized muscle weakness, severe | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:generalized neonatal hypotonia ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:generalized neonatal hypotonia | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:genetic heterogeneity (see 605407) ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:genetic heterogeneity (see 605407) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:glycogen depletion in skeletal muscle ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:glycogen depletion in skeletal muscle | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:good response to steroid treatment ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:good response to steroid treatment | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:hair regrowth may occur later in life ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:hair regrowth may occur later in life | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:hands clenched at birth but loosen in infancy ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:hands clenched at birth but loosen in infancy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:hearing loss is usually severe by age 20 years ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:hearing loss is usually severe by age 20 years | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:hematuria may become apparent after respiratory infections (synpharyngitic) ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:hematuria may become apparent after respiratory infections (synpharyngitic) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:heterozygotes at risk of developing acute, symptomatic methemoglobinemia after exposure to exogenous, methemoglobin-inducing agents ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:heterozygotes at risk of developing acute, symptomatic methemoglobinemia after exposure to exogenous, methemoglobin-inducing agents | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:heterozygotes exhibit blue sclerae and soft velvety skin ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:heterozygotes exhibit blue sclerae and soft velvety skin | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:highly variable phenotype, ranging from asymptomatic to severe ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:highly variable phenotype, ranging from asymptomatic to severe | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:however, neonatal seizures, severe mental retardation, distinct dysmorphic features, and mitochondrial dysfunction are unique to 2p21 deletion syndrome (2p21del) ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:however, neonatal seizures, severe mental retardation, distinct dysmorphic features, and mitochondrial dysfunction are unique to 2p21 deletion syndrome (2p21del) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:hypoplasia of latissimus dorsi muscle ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:hypoplasia of latissimus dorsi muscle | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:hypoplasia of serratus anterior muscle ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:hypoplasia of serratus anterior muscle | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:impaired mitochondrial respiration ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:impaired mitochondrial respiration | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:inability to stand or walk (in severe cases) ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:inability to stand or walk (in severe cases) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:incidence 1 in 15,000-28,000 births ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:incidence 1 in 15,000-28,000 births | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:incidence of 1 in 120,000 live births ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:incidence of 1 in 120,000 live births | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:incidence ranges from 1 in 40,000 to 1 in 350,000 births ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:incidence ranges from 1 in 40,000 to 1 in 350,000 births | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:incomplete penetrance of optic atrophy ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:incomplete penetrance of optic atrophy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:increased central nucleation ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:increased central nucleation | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:increased centralized internal nuclei ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:increased centralized internal nuclei | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:increased connective tissue and fat ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:increased connective tissue and fat | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:increased internal nuclei in skeletal muscle fibers ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:increased internal nuclei in skeletal muscle fibers | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:increased lipid droplets and abnormal mitochondria ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:increased lipid droplets and abnormal mitochondria | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:increased lysosomal glycogen ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:increased lysosomal glycogen | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:increased paternal age ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:increased paternal age | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:increased risk of myeloproliferative disorders in those with somatic mutations ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:increased risk of myeloproliferative disorders in those with somatic mutations | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:increased sensitivity to valproic acid toxicity ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:increased sensitivity to valproic acid toxicity | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:increased staining for myotilin, dystrophin, desmin ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:increased staining for myotilin, dystrophin, desmin | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:increased susceptibility to malignant hyperthermia ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:increased susceptibility to malignant hyperthermia | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:increased variability in muscle fiber diameter ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:increased variability in muscle fiber diameter | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:increased variation in fiber size seen on muscle biopsy ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:increased variation in fiber size seen on muscle biopsy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:intermyofibrillar and subsarcolemmal accumulation of electron-dense material (in some patients) ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:intermyofibrillar and subsarcolemmal accumulation of electron-dense material (in some patients) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:intrafamilial phenotypic variability, ranging from bilateral to unilateral foot involvement to no split-foot malformation ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:intrafamilial phenotypic variability, ranging from bilateral to unilateral foot involvement to no split-foot malformation | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:lack of integrin alpha-7 staining ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:lack of integrin alpha-7 staining | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:leg pain during childhood ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:leg pain during childhood | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:lesions continue to grow until epiphyseal plate closure ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:lesions continue to grow until epiphyseal plate closure | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:life-threatening infections ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:life-threatening infections | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:limb malformations are variable ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:limb malformations are variable | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:lipid accumulation in muscle tissue ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:lipid accumulation in muscle tissue | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:live born infants die within few hours of birth ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:live born infants die within few hours of birth | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:loss of subcutaneous adipose tissue in limbs ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:loss of subcutaneous adipose tissue in limbs | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:low muscle mass ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:low muscle mass | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:majority are stillborn or die in early neonatal period ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:majority are stillborn or die in early neonatal period | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:majority die in neonatal period secondary to respiratory insufficiency ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:majority die in neonatal period secondary to respiratory insufficiency | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:males are more severely affected ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:males are more severely affected | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:males may be more affected than females ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:males may be more affected than females | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:marked muscular hypertrophy ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:marked muscular hypertrophy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:marked predominance of slow-twitch, oxidative (type 1) muscle fibers ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:marked predominance of slow-twitch, oxidative (type 1) muscle fibers | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:maternal imprinting ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:maternal imprinting | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:maternal oligohydramnios ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:maternal oligohydramnios | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:may have seasonal variance in severity ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:may have seasonal variance in severity | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:may progress to other body regions after many years ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:may progress to other body regions after many years | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:may result in sudden death ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:may result in sudden death | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:mean age at onset 10.6 years ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:mean age at onset 10.6 years | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:mean age at onset 35 years (range 20-60) ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:mean age at onset 35 years (range 20-60) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:mean age at onset 46.5 years (range 19-64) ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:mean age at onset 46.5 years (range 19-64) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:mean age of onset 16 to 19 years ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:mean age of onset 16 to 19 years | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:mean age of onset 50 to 52 years ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:mean age of onset 50 to 52 years | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:medial onset of end stage renal disease 13 years ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:medial onset of end stage renal disease 13 years | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:median age at onset 23 years ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:median age at onset 23 years | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:median age of diagnosis is 28 years ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:median age of diagnosis is 28 years | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:median survival 5.7 years ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:median survival 5.7 years | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:mild weakness ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:mild weakness | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:milder cases have isolated recurrent daytime sleepiness and/or lapses into sleep without cataplexy ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:milder cases have isolated recurrent daytime sleepiness and/or lapses into sleep without cataplexy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:minicores extend full fiber diameter ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:minicores extend full fiber diameter | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:mitochondria are placed at the periphery of muscle fibers ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:mitochondria are placed at the periphery of muscle fibers | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:mitochondrial complex iii deficiency (disorder) ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:mitochondrial complex iii deficiency (disorder) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:multi-core congenital myopathy ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:multi-core congenital myopathy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:muscle atrophy (1 patient) ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:muscle atrophy (1 patient) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:muscle atrophy (variable) ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:muscle atrophy (variable) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:muscle biopsy shows degeneration of muscle fibers, variation in fiber size, fiber splitting, rimmed vacuoles, and central myonuclei ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:muscle biopsy shows degeneration of muscle fibers, variation in fiber size, fiber splitting, rimmed vacuoles, and central myonuclei | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:muscle biopsy shows fibrosis and increased connective tissue ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:muscle biopsy shows fibrosis and increased connective tissue | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:muscle biopsy shows intranuclear tubulofilamentous inclusions ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:muscle biopsy shows intranuclear tubulofilamentous inclusions | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:muscle biopsy shows nemaline rods ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:muscle biopsy shows nemaline rods | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:muscle biopsy shows no dystrophic changes ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:muscle biopsy shows no dystrophic changes | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:muscle cramps affect the upper and lower limbs ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:muscle cramps affect the upper and lower limbs | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:muscle cramps, painful, recurrent ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:muscle cramps, painful, recurrent | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:muscle fatigue ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:muscle fatigue | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:muscle pain after exercise ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:muscle pain after exercise | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:muscle weakness and atrophy, distal ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:muscle weakness and atrophy, distal | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:muscle weakness and atrophy, proximal ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:muscle weakness and atrophy, proximal | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:muscle weakness may affect upper limbs ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:muscle weakness may affect upper limbs | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:muscle weakness, distal (in some patients) ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:muscle weakness, distal (in some patients) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:muscle weakness, predominantly proximal ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:muscle weakness, predominantly proximal | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:muscle weakness, proximal, lower limbs (upper limbs may become affected later) ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:muscle weakness, proximal, lower limbs (upper limbs may become affected later) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:muscle weakness, severe, proximal and distal ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:muscle weakness, severe, proximal and distal | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:myofibrillar disintegration ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:myofibrillar disintegration | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:necrotic change ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:necrotic change | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:neonatal edema (in some patients) ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:neonatal edema (in some patients) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:no muscle weakness ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:no muscle weakness | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:no situs inversus ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:no situs inversus | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:nonspecific myopathy ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:nonspecific myopathy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:normal or decreased facial and neck adipose tissue ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:normal or decreased facial and neck adipose tissue | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:normal or increased abdominal adipose tissue ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:normal or increased abdominal adipose tissue | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:nuclear clumps ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:nuclear clumps | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:onset usually in childhood or adolescence ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:onset usually in childhood or adolescence | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:patient b presented with asymptomatic increased serum creatine kinase and no clinical muscle symptoms ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:patient b presented with asymptomatic increased serum creatine kinase and no clinical muscle symptoms | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:pelvic girdle muscle atrophy ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:pelvic girdle muscle atrophy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:pelvic muscle involvement occurs later ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:pelvic muscle involvement occurs later | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:penetrance estimated to be 80% ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:penetrance estimated to be 80% | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:phenotype is due to hypomorphic nonmosaic mutation in the ebp gene ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:phenotype is due to hypomorphic nonmosaic mutation in the ebp gene | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:polyhydramnion ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:polyhydramnion | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:poor muscle build ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:poor muscle build | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:poor sarcomeric structure (in some patients) ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:poor sarcomeric structure (in some patients) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:positive staining for slow myosin heavy chain ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:positive staining for slow myosin heavy chain | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:precipitation by pregnancy ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:precipitation by pregnancy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:progression to proximal muscle weakness ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:progression to proximal muscle weakness | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:proximal limb muscle weakness (occurs later) ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:proximal limb muscle weakness (occurs later) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:proximal lower limb amyotrophy ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:proximal lower limb amyotrophy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:proximal lower limb muscle weakness, later (in some patients) ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:proximal lower limb muscle weakness, later (in some patients) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:proximal muscle weakness (in some patients) ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:proximal muscle weakness (in some patients) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:proximal muscles may be mildly affected ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:proximal muscles may be mildly affected | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:proximal weakness ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:proximal weakness | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:proximal weakness of the lower limbs with longer disease duration ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:proximal weakness of the lower limbs with longer disease duration | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:ragged red fibers seen on biopsy ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:ragged red fibers seen on biopsy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:reduced ankle dorsiflexion ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:reduced ankle dorsiflexion | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:reduced muscle bulk ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:reduced muscle bulk | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:relative muscle weakness, especially in pelvic girdle ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:relative muscle weakness, especially in pelvic girdle | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:replacement of affected muscle tissue with fatty tissue ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:replacement of affected muscle tissue with fatty tissue | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:replacement of myofibers with connective tissue ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:replacement of myofibers with connective tissue | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:rhabdomyolysis, episodic ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:rhabdomyolysis, episodic | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:short umbilical cord ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:short umbilical cord | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:skeletal muscle biopsy shows minor variation in fiber size ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:skeletal muscle biopsy shows minor variation in fiber size | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:skeletal muscle shows dystrophic changes ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:skeletal muscle shows dystrophic changes | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:subsarcolemmal mitochondrial accumulation ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:subsarcolemmal mitochondrial accumulation | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:thick palmar fascia ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:thick palmar fascia | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:tortuous lymphatic tracts ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:tortuous lymphatic tracts | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:triceps aplasia ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:triceps aplasia | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:triceps weakness ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:triceps weakness | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:tubular aggregates in type 2 skeletal muscle fibers ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:tubular aggregates in type 2 skeletal muscle fibers | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:tubular aggregates seen on biopsy ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:tubular aggregates seen on biopsy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:type 1 and type 2 muscle fibers with 'minicore' regions of sarcomeric disorganization, lack of oxidative activity, and absent mitochondria ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:type 1 and type 2 muscle fibers with 'minicore' regions of sarcomeric disorganization, lack of oxidative activity, and absent mitochondria | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:umbilical hiatus ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:umbilical hiatus | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:upper limb muscle weakness may be more severe than lower limb weakness ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:upper limb muscle weakness may be more severe than lower limb weakness | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:vacuolar myopathy ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:vacuolar myopathy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:vacuolated muscle fibers show reduplication of the basement membrane ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:vacuolated muscle fibers show reduplication of the basement membrane | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:vacuoles predominantly in type 2 fibers seen on muscle biopsy ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:vacuoles predominantly in type 2 fibers seen on muscle biopsy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:variation in fibrodiameter seen on muscle biopsy ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:variation in fibrodiameter seen on muscle biopsy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:velopharyngeal muscle weakness ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:velopharyngeal muscle weakness | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:weakness, axial and limb muscles, upper limb muscles more affected than lower limbs ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:weakness, axial and limb muscles, upper limb muscles more affected than lower limbs | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- en:z-disk streaming ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=en:z-disk streaming | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- fatigue musculaire ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=fatigue musculaire | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- jitter ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=jitter | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- létale ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=létale | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- présentation du siège ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=présentation du siège | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- remaniement nécrotique ---
r_associated #0: 26 -->
en:attacks may present during or after sleep
n1=remaniement nécrotique | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=26
- altération cavitaire ---
r_associated #0: 25 -->
en:attacks may present during or after sleep
n1=altération cavitaire | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=25
- dégénérescence cavitaire ---
r_associated #0: 25 -->
en:attacks may present during or after sleep
n1=dégénérescence cavitaire | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=25
- en:exumbilication ---
r_associated #0: 25 -->
en:attacks may present during or after sleep
n1=en:exumbilication | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=25
- en:mitochondrial swelling ---
r_associated #0: 25 -->
en:attacks may present during or after sleep
n1=en:mitochondrial swelling | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=25
- en:obesity ---
r_associated #0: 25 -->
en:attacks may present during or after sleep
n1=en:obesity | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=25
- rétinite pigmentaire ---
r_associated #0: 25 -->
en:attacks may present during or after sleep
n1=rétinite pigmentaire | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=25
- rétinite pigmentaire liée à la périphérine ---
r_associated #0: 25 -->
en:attacks may present during or after sleep
n1=rétinite pigmentaire liée à la périphérine | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=25
- tirant d'un coup sec ---
r_associated #0: 25 -->
en:attacks may present during or after sleep
n1=tirant d'un coup sec | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=25
- désafférentation ---
r_associated #0: 24 -->
en:attacks may present during or after sleep
n1=désafférentation | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=24
- rétinite pigmentaire liée à la PDEB (1-bp del, his557-to-tyr) ---
r_associated #0: 24 -->
en:attacks may present during or after sleep
n1=rétinite pigmentaire liée à la PDEB (1-bp del, his557-to-tyr) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=24
- en:enfeeblement of muscle ---
r_associated #0: 23 -->
en:attacks may present during or after sleep
n1=en:enfeeblement of muscle | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=23
- en:hematomphalus ---
r_associated #0: 23 -->
en:attacks may present during or after sleep
n1=en:hematomphalus | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=23
- en:supraclavicular fat pads ---
r_associated #0: 23 -->
en:attacks may present during or after sleep
n1=en:supraclavicular fat pads | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=23
- fibromyalgie ---
r_associated #0: 23 -->
en:attacks may present during or after sleep
n1=fibromyalgie | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=23
- malformation ---
r_associated #0: 23 -->
en:attacks may present during or after sleep
n1=malformation | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=23
- rétinite pigmentaire liée à la rhodopsine ---
r_associated #0: 23 -->
en:attacks may present during or after sleep
n1=rétinite pigmentaire liée à la rhodopsine | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=23
- une anomalie congénitale ---
r_associated #0: 23 -->
en:attacks may present during or after sleep
n1=une anomalie congénitale | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=23
- en:lymphangiectasis ---
r_associated #0: 22 -->
en:attacks may present during or after sleep
n1=en:lymphangiectasis | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=22
- en:muscular hypotonia ---
r_associated #0: 22 -->
en:attacks may present during or after sleep
n1=en:muscular hypotonia | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=22
- fasciculation ---
r_associated #0: 22 -->
en:attacks may present during or after sleep
n1=fasciculation | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=22
- myotonie ---
r_associated #0: 22 -->
en:attacks may present during or after sleep
n1=myotonie | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=22
- rétinite pigmentaire liée à la périphérine (pro219leu) ---
r_associated #0: 22 -->
en:attacks may present during or after sleep
n1=rétinite pigmentaire liée à la périphérine (pro219leu) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=22
- rétinite pigmentaire sénile ---
r_associated #0: 22 -->
en:attacks may present during or after sleep
n1=rétinite pigmentaire sénile | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=22
- anasarque ---
r_associated #0: 21 -->
en:attacks may present during or after sleep
n1=anasarque | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=21
- maladie opportuniste ---
r_associated #0: 21 -->
en:attacks may present during or after sleep
n1=maladie opportuniste | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=21
- Hydramnios ---
r_associated #0: 20 -->
en:attacks may present during or after sleep
n1=Hydramnios | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=20
- Lipome ---
r_associated #0: 20 -->
en:attacks may present during or after sleep
n1=Lipome | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=20
- Malformation congénitale ---
r_associated #0: 20 -->
en:attacks may present during or after sleep
n1=Malformation congénitale | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=20
- Paralysie générale ---
r_associated #0: 20 -->
en:attacks may present during or after sleep
n1=Paralysie générale | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=20
- Rhabdomyolyse ---
r_associated #0: 20 -->
en:attacks may present during or after sleep
n1=Rhabdomyolyse | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=20
- Arthralgie ---
r_associated #0: 15 -->
en:attacks may present during or after sleep
n1=Arthralgie | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=15
- Douleur articulaire ---
r_associated #0: 15 -->
en:attacks may present during or after sleep
n1=Douleur articulaire | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=15
- Hyde (prurigo nodulaire de) ---
r_associated #0: 15 -->
en:attacks may present during or after sleep
n1=Hyde (prurigo nodulaire de) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=15
- Myalgie ---
r_associated #0: 15 -->
en:attacks may present during or after sleep
n1=Myalgie | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=15
- atrophie musculaire, ataxie, rétinite pigmentaire et diabète sucré ---
r_associated #0: 15 -->
en:attacks may present during or after sleep
n1=atrophie musculaire, ataxie, rétinite pigmentaire et diabète sucré | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=15
- automatisme médullaire (réflexe d') ---
r_associated #0: 15 -->
en:attacks may present during or after sleep
n1=automatisme médullaire (réflexe d') | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=15
- en:congenital atrophy of thyroid ---
r_associated #0: 15 -->
en:attacks may present during or after sleep
n1=en:congenital atrophy of thyroid | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=15
- en:congenital hypothyroidism ---
r_associated #0: 15 -->
en:attacks may present during or after sleep
n1=en:congenital hypothyroidism | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=15
- en:hydramnion ---
r_associated #0: 15 -->
en:attacks may present during or after sleep
n1=en:hydramnion | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=15
- en:mass reflex ---
r_associated #0: 15 -->
en:attacks may present during or after sleep
n1=en:mass reflex | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=15
- en:medullary automatic defence reflex ---
r_associated #0: 15 -->
en:attacks may present during or after sleep
n1=en:medullary automatic defence reflex | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=15
- en:myodynia ---
r_associated #0: 15 -->
en:attacks may present during or after sleep
n1=en:myodynia | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=15
- en:myosalgia ---
r_associated #0: 15 -->
en:attacks may present during or after sleep
n1=en:myosalgia | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=15
- en:neonatal hypothyroidism ---
r_associated #0: 15 -->
en:attacks may present during or after sleep
n1=en:neonatal hypothyroidism | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=15
- hyperthyroïdie (manifestations neuromusculaires dans l') ---
r_associated #0: 15 -->
en:attacks may present during or after sleep
n1=hyperthyroïdie (manifestations neuromusculaires dans l') | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=15
- hypothyroïdie congénitale ---
r_associated #0: 15 -->
en:attacks may present during or after sleep
n1=hypothyroïdie congénitale | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=15
- hypothyroïdie et psychisme ---
r_associated #0: 15 -->
en:attacks may present during or after sleep
n1=hypothyroïdie et psychisme | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=15
- hypothyroïdie néonatale ---
r_associated #0: 15 -->
en:attacks may present during or after sleep
n1=hypothyroïdie néonatale | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=15
- hypotonie plasmatique ---
r_associated #0: 15 -->
en:attacks may present during or after sleep
n1=hypotonie plasmatique | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=15
- hypotonie sphinctérienne anale ---
r_associated #0: 15 -->
en:attacks may present during or after sleep
n1=hypotonie sphinctérienne anale | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=15
- hypotonie sphinctérienne uréthrale ---
r_associated #0: 15 -->
en:attacks may present during or after sleep
n1=hypotonie sphinctérienne uréthrale | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=15
- hypotonie utérine ---
r_associated #0: 15 -->
en:attacks may present during or after sleep
n1=hypotonie utérine | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=15
- hypotonie vésicale ---
r_associated #0: 15 -->
en:attacks may present during or after sleep
n1=hypotonie vésicale | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=15
- hypotonique ---
r_associated #0: 15 -->
en:attacks may present during or after sleep
n1=hypotonique | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=15
- hypotrichose ---
r_associated #0: 15 -->
en:attacks may present during or after sleep
n1=hypotrichose | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=15
- hypotrichose avec anodontie et anhidrose de Touraine ---
r_associated #0: 15 -->
en:attacks may present during or after sleep
n1=hypotrichose avec anodontie et anhidrose de Touraine | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=15
- hypotrichose congénitale des cils ---
r_associated #0: 15 -->
en:attacks may present during or after sleep
n1=hypotrichose congénitale des cils | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=15
- hypotrichose congénitale simple ---
r_associated #0: 15 -->
en:attacks may present during or after sleep
n1=hypotrichose congénitale simple | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=15
- hypotrichose héréditaire de Marie Unna ---
r_associated #0: 15 -->
en:attacks may present during or after sleep
n1=hypotrichose héréditaire de Marie Unna | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=15
- hypotrichose, atrophodermie folliculaire et épithéliomatose ---
r_associated #0: 15 -->
en:attacks may present during or after sleep
n1=hypotrichose, atrophodermie folliculaire et épithéliomatose | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=15
- malentendant (enfant) ---
r_associated #0: 15 -->
en:attacks may present during or after sleep
n1=malentendant (enfant) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=15
- obésité ---
r_associated #0: 15 -->
en:attacks may present during or after sleep
n1=obésité | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=15
- myasthénie ---
r_associated #0: 11 -->
en:attacks may present during or after sleep
n1=myasthénie | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=11
- Amyotrophie ---
r_associated #0: 10 -->
en:attacks may present during or after sleep
n1=Amyotrophie | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=10
- Atrophie ---
r_associated #0: 10 -->
en:attacks may present during or after sleep
n1=Atrophie | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=10
- DES (syndrome du) ---
r_associated #0: 10 -->
en:attacks may present during or after sleep
n1=DES (syndrome du) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=10
- Dysphagie ---
r_associated #0: 10 -->
en:attacks may present during or after sleep
n1=Dysphagie | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=10
- Fibromyalgie ---
r_associated #0: 10 -->
en:attacks may present during or after sleep
n1=Fibromyalgie | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=10
- Hernie ombilicale ---
r_associated #0: 10 -->
en:attacks may present during or after sleep
n1=Hernie ombilicale | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=10
- Hypertonie ---
r_associated #0: 10 -->
en:attacks may present during or after sleep
n1=Hypertonie | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=10
- Hypotonie ---
r_associated #0: 10 -->
en:attacks may present during or after sleep
n1=Hypotonie | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=10
- Jewett-Strong-Marshall (classification de) ---
r_associated #0: 10 -->
en:attacks may present during or after sleep
n1=Jewett-Strong-Marshall (classification de) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=10
- MOMO (syndrome) ---
r_associated #0: 10 -->
en:attacks may present during or after sleep
n1=MOMO (syndrome) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=10
- Macroglossie ---
r_associated #0: 10 -->
en:attacks may present during or after sleep
n1=Macroglossie | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=10
- Malformation ---
r_associated #0: 10 -->
en:attacks may present during or after sleep
n1=Malformation | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=10
- Palpitation ---
r_associated #0: 10 -->
en:attacks may present during or after sleep
n1=Palpitation | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=10
- Parésie ---
r_associated #0: 10 -->
en:attacks may present during or after sleep
n1=Parésie | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=10
- Polyhydramnios ---
r_associated #0: 10 -->
en:attacks may present during or after sleep
n1=Polyhydramnios | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=10
- Spanlang-Tappeiner (syndrome de) ---
r_associated #0: 10 -->
en:attacks may present during or after sleep
n1=Spanlang-Tappeiner (syndrome de) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=10
- atonie de l'utérus ---
r_associated #0: 10 -->
en:attacks may present during or after sleep
n1=atonie de l'utérus | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=10
- en:adipose wen ---
r_associated #0: 10 -->
en:attacks may present during or after sleep
n1=en:adipose wen | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=10
- en:amyotrophy ---
r_associated #0: 10 -->
en:attacks may present during or after sleep
n1=en:amyotrophy | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=10
- en:anal sphincter hypotonia ---
r_associated #0: 10 -->
en:attacks may present during or after sleep
n1=en:anal sphincter hypotonia | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=10
- en:ataxia ---
r_associated #0: 10 -->
en:attacks may present during or after sleep
n1=en:ataxia | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=10
- en:bladder hypotonia ---
r_associated #0: 10 -->
en:attacks may present during or after sleep
n1=en:bladder hypotonia | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=10
- en:cacomorphosis ---
r_associated #0: 10 -->
en:attacks may present during or after sleep
n1=en:cacomorphosis | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=10
- en:congenital eyelashes hypotrichosis ---
r_associated #0: 10 -->
en:attacks may present during or after sleep
n1=en:congenital eyelashes hypotrichosis | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=10
- en:desafferentation ---
r_associated #0: 10 -->
en:attacks may present during or after sleep
n1=en:desafferentation | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=10
- en:fatty tumor ---
r_associated #0: 10 -->
en:attacks may present during or after sleep
n1=en:fatty tumor | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=10
- en:fatty tumour ---
r_associated #0: 10 -->
en:attacks may present during or after sleep
n1=en:fatty tumour | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=10
- en:fibrillar twitching ---
r_associated #0: 10 -->
en:attacks may present during or after sleep
n1=en:fibrillar twitching | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=10
- en:hydrops fetalis ---
r_associated #0: 10 -->
en:attacks may present during or after sleep
n1=en:hydrops fetalis | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=10
- en:hypacusis and athetosis ---
r_associated #0: 10 -->
en:attacks may present during or after sleep
n1=en:hypacusis and athetosis | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=10
- en:hypoacousic child ---
r_associated #0: 10 -->
en:attacks may present during or after sleep
n1=en:hypoacousic child | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=10
- en:hypothyreosis ---
r_associated #0: 10 -->
en:attacks may present during or after sleep
n1=en:hypothyreosis | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=10
- en:hypothyroidism and psychism ---
r_associated #0: 10 -->
en:attacks may present during or after sleep
n1=en:hypothyroidism and psychism | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=10
- en:hypotonic ---
r_associated #0: 10 -->
en:attacks may present during or after sleep
n1=en:hypotonic | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=10
- en:hypotrichosis ---
r_associated #0: 10 -->
en:attacks may present during or after sleep
n1=en:hypotrichosis | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=10
- en:hypotrichosis congenita simplex ---
r_associated #0: 10 -->
en:attacks may present during or after sleep
n1=en:hypotrichosis congenita simplex | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=10
- en:hypotrichosis-anodontic syndrome ---
r_associated #0: 10 -->
en:attacks may present during or after sleep
n1=en:hypotrichosis-anodontic syndrome | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=10
- en:muscle pain ---
r_associated #0: 10 -->
en:attacks may present during or after sleep
n1=en:muscle pain | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=10
- en:muscle wasting ---
r_associated #0: 10 -->
en:attacks may present during or after sleep
n1=en:muscle wasting | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=10
- en:myasthenia ---
r_associated #0: 10 -->
en:attacks may present during or after sleep
n1=en:myasthenia | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=10
- en:plasma hypotonia ---
r_associated #0: 10 -->
en:attacks may present during or after sleep
n1=en:plasma hypotonia | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=10
- en:sphincteric hypotony ---
r_associated #0: 10 -->
en:attacks may present during or after sleep
n1=en:sphincteric hypotony | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=10
- en:uterine hypotonia ---
r_associated #0: 10 -->
en:attacks may present during or after sleep
n1=en:uterine hypotonia | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=10
- hernie diaphragmatique, exomphalocèle, absence de corps calleux, hypertélorisme, myopie et surdité neurosensorielle ---
r_associated #0: 10 -->
en:attacks may present during or after sleep
n1=hernie diaphragmatique, exomphalocèle, absence de corps calleux, hypertélorisme, myopie et surdité neurosensorielle | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=10
- inertie utérine ---
r_associated #0: 10 -->
en:attacks may present during or after sleep
n1=inertie utérine | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=10
- macrosomie, obésité, macrocéphalie et anomalies oculaires ---
r_associated #0: 10 -->
en:attacks may present during or after sleep
n1=macrosomie, obésité, macrocéphalie et anomalies oculaires | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=10
- myotonia ---
r_associated #0: 10 -->
en:attacks may present during or after sleep
n1=myotonia | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=10
- oedémateux (syndrome) ---
r_associated #0: 10 -->
en:attacks may present during or after sleep
n1=oedémateux (syndrome) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=10
- omovertébral (os) ---
r_associated #0: 10 -->
en:attacks may present during or after sleep
n1=omovertébral (os) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=10
- paralysie du muscle oblique supérieur (du globe oculaire) ---
r_associated #0: 10 -->
en:attacks may present during or after sleep
n1=paralysie du muscle oblique supérieur (du globe oculaire) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=10
- polyglucosanes (neuropathie à ) ---
r_associated #0: 10 -->
en:attacks may present during or after sleep
n1=polyglucosanes (neuropathie à ) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=10
- polymorphisme (taux de) ---
r_associated #0: 10 -->
en:attacks may present during or after sleep
n1=polymorphisme (taux de) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=10
- polyneuropathie, ophtalmoplégie, leucoencéphalopathie et pseudo-obstruction intestinale ---
r_associated #0: 10 -->
en:attacks may present during or after sleep
n1=polyneuropathie, ophtalmoplégie, leucoencéphalopathie et pseudo-obstruction intestinale | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=10
- quadriplégie spastique, rétinite pigmentaire et retard mental ---
r_associated #0: 10 -->
en:attacks may present during or after sleep
n1=quadriplégie spastique, rétinite pigmentaire et retard mental | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=10
- réflexe en masse ---
r_associated #0: 10 -->
en:attacks may present during or after sleep
n1=réflexe en masse | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=10
- rétinite pigmentaire (classification de Fishman) ---
r_associated #0: 10 -->
en:attacks may present during or after sleep
n1=rétinite pigmentaire (classification de Fishman) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=10
- sautillement ---
r_associated #0: 10 -->
en:attacks may present during or after sleep
n1=sautillement | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=10
- syndrome de Treft-Sanborn-Carey ---
r_associated #0: 10 -->
en:attacks may present during or after sleep
n1=syndrome de Treft-Sanborn-Carey | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=10
- Anasarque ---
r_associated #0: 5 -->
en:attacks may present during or after sleep
n1=Anasarque | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=5
- Atrophie musculaire ---
r_associated #0: 5 -->
en:attacks may present during or after sleep
n1=Atrophie musculaire | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=5
- Exomphale ---
r_associated #0: 5 -->
en:attacks may present during or after sleep
n1=Exomphale | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=5
- Faiblesse musculaire ---
r_associated #0: 5 -->
en:attacks may present during or after sleep
n1=Faiblesse musculaire | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=5
- Hypotonique ---
r_associated #0: 5 -->
en:attacks may present during or after sleep
n1=Hypotonique | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=5
- Lester (signe de) ---
r_associated #0: 5 -->
en:attacks may present during or after sleep
n1=Lester (signe de) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=5
- Létal ---
r_associated #0: 5 -->
en:attacks may present during or after sleep
n1=Létal | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=5
- Maladie opportuniste ---
r_associated #0: 5 -->
en:attacks may present during or after sleep
n1=Maladie opportuniste | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=5
- Mya (maladie de) ---
r_associated #0: 5 -->
en:attacks may present during or after sleep
n1=Mya (maladie de) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=5
- Palmer (manoeuvre de) ---
r_associated #0: 5 -->
en:attacks may present during or after sleep
n1=Palmer (manoeuvre de) | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=5
- Rétinite pigmentaire ---
r_associated #0: 5 -->
en:attacks may present during or after sleep
n1=Rétinite pigmentaire | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=5
- atrophie congénitale de la thyroïde ---
r_associated #0: 5 -->
en:attacks may present during or after sleep
n1=atrophie congénitale de la thyroïde | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=5
- automatisme mental ---
r_associated #0: 5 -->
en:attacks may present during or after sleep
n1=automatisme mental | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=5
- automatisme psychique ---
r_associated #0: 5 -->
en:attacks may present during or after sleep
n1=automatisme psychique | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=5
- automutilation ---
r_associated #0: 5 -->
en:attacks may present during or after sleep
n1=automutilation | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=5
- automédication ---
r_associated #0: 5 -->
en:attacks may present during or after sleep
n1=automédication | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=5
- autonomisation de la pointe du nez ---
r_associated #0: 5 -->
en:attacks may present during or after sleep
n1=autonomisation de la pointe du nez | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=5
- autonomisation du patient ---
r_associated #0: 5 -->
en:attacks may present during or after sleep
n1=autonomisation du patient | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=5
- autophagique ---
r_associated #0: 5 -->
en:attacks may present during or after sleep
n1=autophagique | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=5
- autophagocytose ---
r_associated #0: 5 -->
en:attacks may present during or after sleep
n1=autophagocytose | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=5
- crétinismes ---
r_associated #0: 5 -->
en:attacks may present during or after sleep
n1=crétinismes | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=5
- en:congenital goiter ---
r_associated #0: 5 -->
en:attacks may present during or after sleep
n1=en:congenital goiter | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=5
- goitre congénital ---
r_associated #0: 5 -->
en:attacks may present during or after sleep
n1=goitre congénital | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=5
- hydramnios aigu ---
r_associated #0: 5 -->
en:attacks may present during or after sleep
n1=hydramnios aigu | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=5
- hydramnios chronique ---
r_associated #0: 5 -->
en:attacks may present during or after sleep
n1=hydramnios chronique | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=5
- hydranencéphalie ---
r_associated #0: 5 -->
en:attacks may present during or after sleep
n1=hydranencéphalie | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=5
- hydrargirose ---
r_associated #0: 5 -->
en:attacks may present during or after sleep
n1=hydrargirose | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=5
- hydrargyrie ---
r_associated #0: 5 -->
en:attacks may present during or after sleep
n1=hydrargyrie | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=5
- hydrargyrisme ---
r_associated #0: 5 -->
en:attacks may present during or after sleep
n1=hydrargyrisme | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=5
- hydratase ---
r_associated #0: 5 -->
en:attacks may present during or after sleep
n1=hydratase | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=5
- hydratation cutanée ---
r_associated #0: 5 -->
en:attacks may present during or after sleep
n1=hydratation cutanée | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=5
- hydrate de carbone ---
r_associated #0: 5 -->
en:attacks may present during or after sleep
n1=hydrate de carbone | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=5
- hydrencéphalie ---
r_associated #0: 5 -->
en:attacks may present during or after sleep
n1=hydrencéphalie | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=5
- hydrencéphalocèle ---
r_associated #0: 5 -->
en:attacks may present during or after sleep
n1=hydrencéphalocèle | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=5
- hydrine ---
r_associated #0: 5 -->
en:attacks may present during or after sleep
n1=hydrine | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=5
- hydroa ---
r_associated #0: 5 -->
en:attacks may present during or after sleep
n1=hydroa | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=5
- hydroa aestivalis ---
r_associated #0: 5 -->
en:attacks may present during or after sleep
n1=hydroa aestivalis | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=5
- hydroa vacciniforme de Bazin ---
r_associated #0: 5 -->
en:attacks may present during or after sleep
n1=hydroa vacciniforme de Bazin | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=5
- hydroadénome ---
r_associated #0: 5 -->
en:attacks may present during or after sleep
n1=hydroadénome | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=5
- hydrocalice ---
r_associated #0: 5 -->
en:attacks may present during or after sleep
n1=hydrocalice | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=5
- hydrocarboné ---
r_associated #0: 5 -->
en:attacks may present during or after sleep
n1=hydrocarboné | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=5
- hydrocarbure ---
r_associated #0: 5 -->
en:attacks may present during or after sleep
n1=hydrocarbure | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=5
- hyperthyroïdie et psychisme ---
r_associated #0: 5 -->
en:attacks may present during or after sleep
n1=hyperthyroïdie et psychisme | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=5
- hypertrichose congénitale des cils ---
r_associated #0: 5 -->
en:attacks may present during or after sleep
n1=hypertrichose congénitale des cils | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=5
- hypertrichose lanugineuse acquise ---
r_associated #0: 5 -->
en:attacks may present during or after sleep
n1=hypertrichose lanugineuse acquise | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=5
- hypertrichose lanugineuse congénitale ---
r_associated #0: 5 -->
en:attacks may present during or after sleep
n1=hypertrichose lanugineuse congénitale | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=5
- hypertrichose nævoïde ---
r_associated #0: 5 -->
en:attacks may present during or after sleep
n1=hypertrichose nævoïde | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=5
- hypertrichose-atrophie cutanée-ectropion et macrostomie ---
r_associated #0: 5 -->
en:attacks may present during or after sleep
n1=hypertrichose-atrophie cutanée-ectropion et macrostomie | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=5
- hypertrichosis universalis congenita ---
r_associated #0: 5 -->
en:attacks may present during or after sleep
n1=hypertrichosis universalis congenita | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=5
- hypertriglycéridémie ---
r_associated #0: 5 -->
en:attacks may present during or after sleep
n1=hypertriglycéridémie | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=5
- hypothyroïdisme congénital ---
r_associated #0: 5 -->
en:attacks may present during or after sleep
n1=hypothyroïdisme congénital | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=5
- infantilisme type brissaud ---
r_associated #0: 5 -->
en:attacks may present during or after sleep
n1=infantilisme type brissaud | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=5
- malf ormation dysraphique ---
r_associated #0: 5 -->
en:attacks may present during or after sleep
n1=malf ormation dysraphique | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=5
- malformation kystique adénomatoïde du poumon ---
r_associated #0: 5 -->
en:attacks may present during or after sleep
n1=malformation kystique adénomatoïde du poumon | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=5
- malformation luxante de la hanche ---
r_associated #0: 5 -->
en:attacks may present during or after sleep
n1=malformation luxante de la hanche | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=5
- malformation mamelonnaire ---
r_associated #0: 5 -->
en:attacks may present during or after sleep
n1=malformation mamelonnaire | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=5
- malformation mammaire ---
r_associated #0: 5 -->
en:attacks may present during or after sleep
n1=malformation mammaire | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=5
- malformation ombilicale ---
r_associated #0: 5 -->
en:attacks may present during or after sleep
n1=malformation ombilicale | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=5
- malformation utérine ---
r_associated #0: 5 -->
en:attacks may present during or after sleep
n1=malformation utérine | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=5
- malformation vaginale ---
r_associated #0: 5 -->
en:attacks may present during or after sleep
n1=malformation vaginale | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=5
- malformation vasculaire cérébrale du nourrisson ---
r_associated #0: 5 -->
en:attacks may present during or after sleep
n1=malformation vasculaire cérébrale du nourrisson | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=5
- malformations de la charnière occipitocervicale ---
r_associated #0: 5 -->
en:attacks may present during or after sleep
n1=malformations de la charnière occipitocervicale | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=5
- nanisme hypothyroïdien ---
r_associated #0: 5 -->
en:attacks may present during or after sleep
n1=nanisme hypothyroïdien | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=5
- syndrome d'insuffisance thyroïdienne congénitale ---
r_associated #0: 5 -->
en:attacks may present during or after sleep
n1=syndrome d'insuffisance thyroïdienne congénitale | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=5
- % production ---
r_associated #0: -5 -->
en:attacks may present during or after sleep
n1=% production | n2=en:attacks may present during or after sleep | rel=r_associated | relid=0 | w=-5
|