Diko : en:exertional leg pain

en:exertional leg pain

Catégories

Nom

Informations lexicales

Langue:anglais

Liens externes

›

umls:C3809984

Associations d'idées

[F]

›

1000

en:type 1 fiber atrophy

•

en:symptoms may be induced by heat

•

en:normal mitochondrial morphology (1 patient)

•

en:disorganization of the myofibrillar pattern

•

en:hypotonia, axial, severe

•

en:increased mitochondria seen on muscle biopsy

•

en:muscle biopsy shows glycogen accumulation in myofibrils and lysosomes

•

en:weakness may be exacerbated by illness or stress

•

en:acetazolamide may worsen symptoms

•

en:distal muscle weakness due to neuropathy

•

en:dystrophic changes

•

en:lymphoscintigraphy shows impaired lymphatic uptake and drainage

•

en:muscle biopsy shows lipid deposition

•

en:muscle pain with exercise (in older patients)

•

en:impaired mitochondrial respiration

•

en:internal nuclei

•

en:lower limb muscle hypotrophy

•

en:macroglossia

•

en:minicores extend full fiber diameter

•

en:limb muscle weakness and atrophy, distal, neurogenic

•

en:myotonia, cold-sensitive, predominantly of face, tongue, forearm, and hand precipitated by muscle cooling or cold exposure or rest after exercise

•

en:distal muscle weakness and atrophy may occur, upper and lower limbs affected

•

en:facial muscle atrophy

•

en:lipid droplet accumulation

•

en:myopathy, mild to severe

•

en:muscle biopsy shows atrophy

•

en:myopathic pattern seen on emg

•

en:cellulitis or infection may occur

•

en:increased mitochondria with rare paracrystalline inclusions

•

en:decreased glutamate oxidation (about 63% of normal)

•

en:decreased respiratory complex i+iii and ii+iii activity

•

en:defective glycosylation of alpha-dystroglycan seen on biopsy

•

en:hypoplasia of muscle

•

en:inability to jump or squat

•

en:mild decrease in mitochondrial respiratory chain activity

•

en:muscles become hard and tender during exercise

•

en:no lipodystrophy in face and neck

•

en:decreased mtdna

•

en:rhabdomyolysis (in some patients) endocrine : hypogonadotropic hypogonadism (rare)

•

en:scapuloperoneal amyotrophy

•

en:ankle clonus

•

en:areflexia due to muscle weakness

•

en:centrally nucleated skeletal muscle fibers

•

en:combined mitochondrial respiratory chain deficiency (in most patients)

•

en:edema reoccurs with infections

•

en:hypoglycosylation of alpha-dystroglycan seen on muscle biopsy

•

en:mitochondrial complex iii deficiency (disorder)

•

en:muscle biopsy shows small nerve terminals

•

en:pectoralis hypoplasia

•

en:abnormal z bands

•

en:fasciculation

•

en:hypotonia, mild (1 patient)

•

en:necrotic and regenerating muscle fibers

•

en:unable to walk

•

en:tubular aggregates in muscle fibers may occur

•

en:shoulder weakness and atrophy

•

en:sarcoplasmic accumulation of electron-dense granulofilamentous material

•

en:small, angulated muscle fibers seen on muscle biopsy

•

en:myoclonic spasms

•

en:muscle weakness due to peripheral neuropathy

•

en:muscle weakness, symmetric, proximal, lower limbs

•

en:muscle biopsy shows dystrophic changes

•

en:hypotonia, severe, neonatal

•

en:degrading mitochondria

•

en:abnormal mitochondrial proliferation

•

en:biopsy muscle normal

•

en:gait disturbance

•

en:increased centralized nuclei

•

en:limb-girdle muscle atrophy

•

en:lipoma

•

en:muscle weakness, proximal and distal

•

en:inclusions form a lobulated structure seen on electron microscopy

•

en:distal muscle atrophy due to neurologic disease

•

en:weakness of long finger extensor muscles (occurs later)

•

en:proximal muscle weakness (occasional)

•

en:nonspecific myopathy

•

en:subsarcolemmal nemaline bodies (rods) on gomori trichrome staining

•

en:muscle biopsy shows increased subsarcolemmal vacuolar glycogen accumulation

•

en:mri shows fatty replacement

•

en:hyaline plaques with absent oxidative activity

•

en:edema of lower extremity

•

en:proximal and distal muscle atrophy

•

en:autophagic vacuoles with multilamellar structures seen on electron microscopy

•

en:decreased coenzyme q10 content

•

en:distal muscular atrophy due to peripheral neuropathy

•

en:muscle biopsy shows abnormal fiber size and variation

•

en:muscle pain and cramping on exertion

•

en:necrotic change

•

en:normal phosphorylase kinase activity in muscle

•

en:cores contain densely packed myofilaments

•

en:atrophy of the intrinsic foot and hand muscles

•

en:distal weakness, upper and lower limbs (variable)

•

en:head drop due to neck muscle weakness

•

en:loss of sarcomeric striations

•

en:reduced subcutaneous adipose tissue

•

en:type 2 fiber predominance

•

en:ubiquinone decreased

•

en:virtually no active movement at birth (wws)

•

en:potassium sensitivity has been reported

•

en:decreased glycosylation of alpha-dystroglycan (dag1, 128239)

•

en:distal skeletal muscle atrophy (after long disease duration)

•

en:foot-drop

•

en:hypoactive gag reflex

•

en:normal lamp2 staining (309060)

•

en:muscle biopsy shows sarcoplasmic pas-positive vacuoles

•

en:proximal lower limb muscle weakness, upper and lower (later onset)

•

en:levator palpebrae superioris atrophy

•

en:pectoralis major hypoplasia

•

en:lymphedema of lower extremity

•

en:proximal muscle weakness, mild (in some patients)

•

en:edema limbs

•

en:type 1 fiber atrophy seen on muscle biopsy

•

en:amyotrophy, neurogenic

•

en:muscle coenzyme q deficiency

•

en:abnormal glycosylation of alpha-dystroglycan seen on muscle biopsy

•

en:alimentary edema

•

en:axial muscle weakness

•

en:decreased activity of cytochrome c oxidase in most cases seen on muscle biopsy

•

en:lipodystrophy

•

en:lymphangiectasia

•

en:mitochondria are placed at the periphery of muscle fibers

•

en:mri of the calves shows fatty atrophy with preservation of the medial gastrocnemius in the posteromedial compartment

•

en:increased variability in muscle fiber diameter

•

en:muscle weakness, severe, proximal and distal

•

en:mitochondrial paracrystalline inclusion bodies

•

en:neck muscle weakness

•

en:muscle fatigue

•

en:muscle biopsy shows decreased muscle-specific phosphorylase kinase activity

•

en:muscle biopsy shows groups of small angulated fibers consistent with denervation

•

en:merosin-positive biopsy

•

en:intermyofibrillar and subsarcolemmal granulofilamentous protein aggregates

•

en:exercise-induced weakness

•

en:no muscle weakness

•

en:muscle weakness in forearm muscles

•

en:muscle fibers contain internal nuclei

•

en:muscle weakness, proximal and distal (predominant lower limb involvement)

•

en:muscle weakness, limb-girdle (lower and upper limbs may be affected)

•

en:muscle wasting in lower limbs

•

en:muscle wasting, progressive

•

en:muscle pain (less common)

•

en:mitochondrial myopathy, severe

•

en:muscle biopsy shows degenerating endplates and junctional folds

•

en:muscle biopsy shows necrotic and atrophic fibers with centralized nuclei

•

en:muscle biopsy shows myofiber degeneration

•

en:muscle biopsy shows mitochondrial aggregates

•

en:muscle biopsy shows increased number of endplate regions distributed over increased span of muscle fiber

•

en:muscle biopsy shows enlargement of type i muscle fibers, consistent with denervation

•

en:muscle biopsy shows decreased activity of cytochrome c oxidase

•

en:muscle biopsy shows atrophic fibers

•

en:multiple mitochondrial dna (mtdna) deletions seen on muscle biopsy

•

en:myopathic changes seen on emg

•

en:myalgia (in some patients)

•

en:ring fibers

•

en:myopathic pattern seen on emg (in some patients)

•

en:progressive muscle weakness

•

en:thenar muscle atrophy

•

en:subsarcolemmal hyaline bodies in 25-30% type i fibers only

•

en:sparing of the anterior tibial compartment

•

en:soft fleshy palms (50%)

•

en:skeletal muscle tissue shows depletion of mitochondrial dna (mtdna)

•

en:scapuloperoneal muscular atrophy due to denervation

•

en:loss of ability to walk in early childhood

•

en:prominent muscular appearance

•

en:primary myopathic changes seen on emg

•

en:myositis (in some patients)

•

en:plantar fibromatosis

•

en:pelvic girdle muscle weakness (occurs earlier)

•

en:other mitochondrial complex enzyme activities may also be decreased

•

en:nuclear clumps

•

en:no staining for oxidative enzymes

•

en:normal or increased adipose tissue around the neck

•

en:neurogenic changes seen on emg and biopsy

•

en:nemaline rod formation

•

en:mitochondrial dna depletion (in some)

•

en:dystrophic features seen on muscle biopsy

•

en:lack of integrin alpha-7 staining

•

en:arm/shoulder muscle hypoplasia

•

en:cores or minicores

•

en:congophilic eosinophilic inclusions

•

en:calf hypertrophy (less common)

•

en:a subset of patients develop bilateral weakness

•

en:autophagic rimmed vacuoles

•

en:attacks precipitated by cold temperature

•

en:atrophic calf muscles

•

en:amyotrophy, distal, upper and lower limbs

•

en:decreased lipoic acid

•

en:affected muscles show atrophy

•

en:absence of gamma-sarcoglycan protein

•

en:absence of caveolin-3 staining

•

en:abnormal muscle fibers with amorphous, granular, or hyaline deposits

•

en:abnormal mitochondria

•

en:abnormal irregular myofibrillar network

•

en:abnormal distribution of subcutaneous fat

•

en:tubular aggregates seen on muscle biopsy

•

en:decreased collagen vi

•

en:decreased muscle action potential after warming affected muscle

•

en:internal nuclei seen on muscle biopsy

•

en:fasciculations (in some patients)

•

en:independent walking may not be achieved

•

en:increased perisarcolemmal calcium deposition

•

en:increased intermyofibrillar and subsarcolemmal glycogen

•

en:hypotonia (45%)

•

en:hypotonia, truncal and appendicular

•

en:hyporeflexia of lower limbs

•

en:generalized limb muscle atrophy

•

en:fiber type grouping

•

en:episodic, nonerythematous, nonpruritic, nontender edema, episodic

•

en:decreased muscle succinate dehydrogenase

•

en:emg shows myopathic and neurogenic changes

•

en:distal muscle atrophy due to neuropathy

•

en:distal limb muscle weakness occurs later

•

en:distal limb muscle atrophy (less common)

•

en:difficulty raising arms

•

en:denervation of skeletal muscles

•

en:degenerating fibers

•

en:decreased or absent ankle reflexes

•

en:tubular aggregates mainly in type 2 fibers and are subsarcolemmal or intermyofibrillar and stain for nadh-tetrazolium reductase

•

en:distal muscle weakness and atrophy, upper and lower limbs

•

en:type 1 and type 2 muscle fibers with 'minicore' regions of sarcomeric disorganization, lack of oxidative activity, and absent mitochondria

•

en:muscle stiffness (in older patients)

•

en:muscle weakness increases with age

•

en:muscle weakness and atrophy may be asymmetric

•

en:muscle weakness, variable

•

en:muscle weakness, proximal and distal, affecting upper and lower limbs

•

en:muscle weakness, episodic

•

en:z-band streaming

•

en:muscle wasting, severe, primarily in the legs

•

en:muscle pain after exercise

•

en:myopathic changes on pathology

•

en:muscle hypertrophy may occur

•

en:muscle fiber splitting

•

en:muscle fibers are immunoreactive for desmin and vimentin

•

en:muscle biopsy shows small rounded fibers

•

en:muscle biopsy shows sarcoplasmic rods in myofibers

•

en:muscle biopsy shows neurogenic atrophy

•

en:muscle biopsy shows myopathic or dystrophic changes

•

en:muscle atrophy affecting the upper back and neck muscles

•

en:muscle weakness is not a feature

•

en:myopathic episodes triggered by exercise, fasting, infection, cold temperatures

•

en:motor clumsiness

•

en:progressive loss of facial adipose tissue

•

en:variably decreased activities of mitochondrial respiratory complexes i, ii, and iv

•

en:tibialis anterior muscle affected

•

en:thickened subcutaneous tissue

•

en:swelling of the affected areas

•

en:skeletal muscle shows decreased sarcoglycan proteins

•

en:proximal muscle weakness more severe than distal muscle weakness

•

en:proximal muscle weakness

•

en:proliferation of fatty tissue in muscle (in some patients)

•

en:primarily affects lower limbs

•

en:myotonia (usually occurs during rapid voluntary muscle movements after a period of rest)

•

en:poor sarcomeric structure (in some patients)

•

en:poor head control

•

en:paucity or absence of lymph nodes in the axillae and above the inguinal ligaments seen on scintilymphangiography

•

en:paralysis of the lower limbs (later)

•

en:paracrystalline inclusions

•

en:no staining for periodic acid schiff (pas)

•

en:neurogenic changes

•

en:nemaline bodies

•

en:muscle atrophy, proximal and distal (predominant lower limb involvement)

•

en:variable deficiencies of mitochondrial respiratory chain complexes i, iii, and iv

•

en:mild muscle weakness

•

en:centralized nuclei, rare

•

en:decreased coenzyme q10

•

en:decreased caveolin-3 expression on muscle biopsy

•

en:decreased activity of mitochondrial complex i

•

en:decreased activities of several mitochondrial respiratory enzymes

•

en:decreased activities of mitochondrial complexes i, ii, and iii

•

en:cytochrome c oxidase-negative fibers

•

en:contractures of distal lower limbs

•

en:congophilic inclusions

•

en:calf muscle discomfort

•

en:decreased glycosylation of alpha-dystroglycan

•

en:both type 1 and type 2 fiber predominance has been reported

•

en:biopsy shows nonspecific myopathy without rimmed vacuoles

•

en:attacks usually decrease or disappear after age 40 years

•

en:atrophy of neck muscles may occur later

•

en:amyotrophy of the lower limbs (in some patients)

•

en:adiposis on mri

•

en:abnormal fat accumulation in the back (in some patients)

•

en:marked lack of adipose tissue

•

en:decreased density of calcium release units

•

en:muscle soft, tissue

•

en:decreased immunostaining for alpha-sarcoglycan

•

en:fibrillations in affected muscles

•

en:interosseus muscles involved

•

en:increased staining for myotilin, dystrophin, desmin

•

en:increased internal nuclei

•

en:increased echo intensity in affected muscles

•

en:hypertrophy of the extensor digitorum brevis muscles

•

en:hip girdle muscle weakness (usually presenting symptom)

•

en:generalized muscle wasting

•

en:giant granules in muscle cells

•

en:fiber type variation seen on biopsy

•

en:edematous hands and feet (1 patient)

•

en:disruption of the m-line

•

en:fiber necrosis

•

en:dystrophic features and atrophic fibers seen on muscle biopsy

•

en:distal limb muscle weakness and atrophy

•

en:edema at birth

•

en:excessive neutral fat and free fatty acids in type-i fibers

•

en:fatty infiltration seen on muscle biopsy

•

en:difficulty running or inability to run

•

en:myalgia

•

en:no ragged-red fibers

•

en:normal alpha-glucosidase or acid maltase activity (gaa, 606800)

•

en:nonspecific myopathic changes without dystrophic or inflammatory changes seen on muscle biopsy

•

en:neurogenic atrophy seen on muscle biopsy

•

en:neonatal hypotonia

•

en:myxedematous appearance

•

en:mri shows fatty infiltration of affected muscles

•

en:muscle weakness (1 patient)

•

en:muscle weakness, severe, axial and proximal predominance

•

en:muscle weakness, proximal, lower limbs (upper limbs may become affected later)

•

en:muscle weakness, primarily proximal

•

en:muscle hypertrophy in affected area

•

en:muscle biopsy shows variation in fiber size

•

en:muscle biopsy shows increased variation in fiber size

•

en:muscle atrophy, progressive

•

en:muscle activity is electrically silent on emg

•

en:percussion myotonias

•

en:skeletal muscle biopsy shows minor variation in fiber size

•

en:progressive proximal muscle weakness

•

en:tortuous lymphatic tracts

•

en:mild proximal muscle weakness (<10% of patients)

•

en:weakness of ankle and toe extensor (dorsiflexor) muscles

•

en:wasting, especially temporal, neck, and facial muscles

•

en:variability in fiber size

•

en:upper and/or lower limbs may be affected

•

en:umbilical hernia

•

en:type 1 muscle fiber predominance

•

en:tubular aggregates (in some patients)

•

en:thick palmar fascia

•

en:proximal muscles more often affected

•

en:swelling of the extremities, episodic

•

en:signs of denervation seen on biopsy

•

en:shoulder muscle hypoplasia

•

en:shoulder girdle muscle weakness and atrophy, progressive

•

en:severely decreased or absent lamp2 protein

•

en:sarcoplasmic inclusions

•

en:reduced lower limb subcutaneous fat

•

en:quadriceps atrophy (later onset)

•

en:mitochondrial dna depletion, severe

•

en:distal muscle weakness and atrophy of upper and lower limbs due to peripheral neuropathy

•

en:mild muscle atrophy in forearm muscles

•

en:decreased achilles reflex

•

en:denuded postsynaptic regions

•

en:delayed ambulation

•

en:defects in lipoate-containing mitochondrial enzyme complexes

•

en:decreased postsynaptic folding at the neuromuscular junction

•

en:decreased muscle mass (especially of limbs)

•

en:decreased activities of mitochondrial-encoded respiratory chain complexes

•

en:decreased activities of complexes i, iii, and iv, variable

•

en:decreased ability to run

•

en:distal limb muscular weakness due to peripheral neuropathy

•

en:contractures of upper limbs (in some patients)

•

en:congenital absence of gluteal muscles

•

en:by fourth decade, many patients need help with ambulation

•

en:biopsy shows defects in pyruvate oxidation

•

en:attacks relieved by potassium administration

•

en:atrophy of the thenar and hypothenar muscles

•

en:'sloping' shoulders due to muscle atrophy

•

en:weakness of the intrinsic hand muscles (in some patients)

•

en:distal limb muscle weakness due to peripheral neuropathy

•

en:distal lower limb muscle weakness and atrophy

•

en:lymphedema of the hands (in some patients)

•

en:inclusions stain positively with nitroblue tetrazolium (nbt)

•

en:lymphedema, hands (rare)

•

en:loss of subcutaneous and visceral adipose tissue, mild

•

en:loss of gluteal adipose tissue

•

en:limb lymphedema (in some patients)

•

en:limb-girdle muscular dystrophy

•

en:increased fatty and connective tissue in skeletal muscle

•

en:increased endomysial fibrosis

•

en:increased connective tissue

•

en:hypotonia (untreated hypothyroidism)

•

en:distal muscle weakness, predominantly lower limbs

•

en:hypotonia, mild

•

en:hyperactive deep tendon reflexes

•

en:fatty replacement

•

en:facial muscle weakness and atrophy, progressive

•

en:enteroviral dermatomyositis syndrome

•

en:emg shows denervation

•

en:dysphonia

•

en:distal muscle weakness due to peripheral neuropathy

•

en:weakness of neck extensors (rare)

•

en:angular atrophic fibers

•

en:abdominal muscle hypoplasia

•

en:muscle weakness after cooling or on warming affected muscle

•

en:nonspecific myopathic changes seen on biopsy

•

en:neuropathic or myopathic changes seen on emg

•

en:neurogenic changes seen on emg

•

en:nemaline rods may be observed

•

en:myofibromatosis affecting skin, muscle, bone, and viscera

•

en:myofibrillar myopathy

•

en:muscular dystrophy (in some patients)

•

en:muscle weakness, severe

•

en:patients achieve independent ambulation, but may lose it

•

en:muscle weakness, proximal, limb-girdle

•

en:muscle weakness, mild, proximal and distal

•

en:muscle weakness, lower limbs, during exercise

•

en:muscle mri shows fatty infiltration

•

en:muscle biopsy shows myodegenerative changes with beta-amyloid and phosphorylated tau deposits

•

en:muscle biopsy shows glycogen storage

•

en:muscle biopsy shows dystrophic features (later in disease course)

•

en:muscles have a woody consistency on palpation

•

en:no facial muscle involvement

•

en:percussion-induced rapid rolling muscle contractions (pirc)

•

en:mitochondrial respiratory chain complex i, ii, and iii defect

•

en:smooth muscle may also become involved

•

en:neuronopathy, distal hereditary motor, type iid

•

en:acquire ability to walk and jump in childhood, but motor regression occurs later

•

en:weakness of all intrinsic hand muscles (later)

•

en:umbilical depression

•

en:tubular aggregates mainly in type 1 fibers

•

en:trunk muscle atrophy

•

en:transient eosinophilic myositis (seen on muscle biopsy) in the first decade

•

en:stiffness (uncommon)

•

en:shortening of the fascial structures of the palm and fingers

•

en:pharyngeal muscle weakness

•

en:severe muscular hypotonia

•

en:secondary myopathic features

•

en:secondary loss of sarcolemmal caveolin-3

•

en:scapuloperoneal weakness

•

en:rimmed vacuoles

•

en:recovery between attacks

•

en:poor muscle mass

•

en:polymyositis

•

en:mri shows increased signal intensity in affected muscles consistent with fatty infiltration

•

en:winged scapula

•

en:mitochondrial complex iii deficiency, isolated, seen on muscle biopsy

•

en:decreased glycosylation of alpha-dystroglycan seen on muscle biopsy

•

en:difficulty in toe walking

•

en:defects in mitochondria respiratory activities, mainly complexes i, ii, and iv

•

en:decremental response to repetitive stimulation at neuromuscular junction

•

en:decreased or patchy amounts of alpha-dystrobrevin and beta-2-syntrophin at the sarcolemma

•

en:decreased numbers of type 2b fibers

•

en:decreased muscle mass (predominantly in lower extremities)

•

en:decreased muscle mass (especially in lower limbs)

•

en:deafferentation

•

en:distal lower limb amyotrophy

•

en:cox-depleted fibers

•

en:congenital myasthenic syndrome (reported in 1 patient who survived to age 20 years)

•

en:changes in sarcoplasmic reticulum and t-tubules

•

en:attacks of weakness

•

en:atrophy of ankle and toe extensor (dorsiflexor) muscles

•

en:atrophic fibers

•

en:apoptotic nuclei

•

en:mild atrophy of the proximal lower limbs

•

en:difficulty walking and climbing stairs

•

en:adhalin deficiency seen on muscle biopsy

•

en:distal muscle weakness and atrophy

•

en:inability to stand on tiptoes

•

en:low muscle mass

•

en:lipoatrophy, generalized

•

en:large hypertrophied fibers

•

en:infantile axial hypotonia

•

en:increased t-2 signal in muscles of lower extremities on mri (in some patients)

•

en:increased mitochondria with abnormal cristae

•

en:distal muscle weakness in lower limbs, severe

•

en:increased central nucleation

•

en:increased lysosomal glycogen

•

en:hypotonia at birth

•

en:hypoplasia of the hand muscles (29%)

•

en:hypoplasia of cervical paravertebral muscles

•

en:glycogenosis of skeletal muscle, mild (in some patients)

•

en:generalized muscle weakness, proximal and distal

•

en:emg shows fibrillation potentials

•

en:emg may showed myotonic discharges

•

en:easy fatigability

•

en:distal myopathy (in 1 family)

•

en:muscle biopsy shows subsarcolemmal nemaline bodies (rods) on gomori trichrome staining

•

en:muscle biopsy shows poor development of the postsynaptic membrane

•

en:muscle biopsy shows peripheral accumulation of abnormal mitochondria

•

en:muscle biopsy shows lipid droplets

•

en:muscle biopsy shows decreased postsynaptic areas of clefts and folds

•

en:muscle biopsy shows 'spheroid bodies' in type 1 muscle fibers

•

en:muscle biopsy may show inflammatory changes

•

en:hip abductor weakness and atrophy

•

en:mitochondrial swelling

•

en:loss of subcutaneous adipose tissue in limbs

•

en:lipid accumulation in muscle tissue

•

en:increased intramuscular fat

•

en:increased fibrosis

•

en:increased fat and fibrous tissue

•

en:increased connective tissue and fat in muscles

•

en:increased adipose fibrosis

•

en:imaging shows muscle atrophy and fatty replacement

•

en:muscle cramps, painful, recurrent

•

en:necrotic and regenerating fibers

•

en:muscle fiber splitting (in some patients)

•

en:proximal muscle weakness in upper limbs

•

en:groups of atrophic fibers seen on muscle biopsy (type i fiber predominance)

•

en:shoulder weakness

•

en:rhabdomyolysis may occur

•

en:retroperitoneal fibrosis (rare)

•

en:reduced activity of mitochondrial respiratory chains (1 family)

•

en:quadriceps aplasia

•

en:proximal muscle weakness occurs later

•

en:predominantly lower limb lymphedema

•

en:muscle hematoma

•

en:poor head control in infancy

•

en:myogenic changes seen on emg

•

en:myasthenias

•

en:muscle weakness is predominantly of extremities and tongue

•

en:muscle weakness following prolonged exercise

•

en:muscle weakness associated with fasting or infection

•

en:muscle weakness, upper and lower limbs

•

en:muscle wasting (especially legs and arms)

•

en:handgrip myotonia

•

en:difficulty walking on heels occurs prior to difficulty walking on toes

•

en:greater soleus involvement than gastrocnemii involvement seen on mri

•

en:calf hypertrophy (early in the disease)

•

en:decreased shank muscle mass

•

en:decreased distal reflexes

•

en:decreased caveolin-3 expression seen on muscle biopsy

•

en:decreased activity of multiple mitochondrial respiratory complex enzymes

•

en:decreased activity and protein levels of respiratory chain complexes i, ii, iii, and iv

•

en:chronic denervation seen on emg

•

en:calf hypertrophy (uncommon)

•

en:buffalo hump (rare)

•

en:depletion of mitochondrial dna

•

en:biopsy shows myopathy without vacuoles

•

en:atrophy of upper girdle muscles

•

en:atrophic muscle fibers

•

en:angulated fibers

•

en:acquired partial lipodystrophy

•

en:absence of myotonia in infancy (congenital form)

•

en:absence of merosin in muscle

•

en:decrement of the compound muscle action potential on repetitive stimulation

•

en:dermal or subcutaneous infiltrate of spindle-shaped cells arranged in a whorled pattern seen on histology

•

en:generalized amyotrophy

•

en:electron microscopy shows abnormal mitochondria with disorganized and vacuolated cristae

•

en:gastrocnemius and soleus muscles most affected

•

en:frequent falls

•

en:focal loss of cross striations on muscle biopsy

•

en:fiber size variation

•

en:fiber-type variability

•

en:excess fat, symmetrically located in buttocks and lower extremities to ankles

•

en:emg shows fibrillations

•

en:skeletal muscle shows dystrophic changes

•

en:distal atrophy of the legs

•

en:electromyogram normal

•

en:edema, subcutaneous, generalized

•

en:dystrophic changes seen on muscle biopsy

•

en:dystrophic changes occur later

•

en:distal muscle weakness (first affects anterior leg muscles, then posterior leg muscles)

•

en:distal muscle weakness, occurs initially

•

en:distal lower limb anterior compartment weakness

•

en:distal limb atrophy (upper and lower)

•

en:skeletal muscle biopsy shows decreased cytochrome c oxidase activity

•

en:muscle biopsy shows degeneration of muscle fibers, variation in fiber size, fiber splitting, rimmed vacuoles, and central myonuclei

•

en:small endplate

•

en:muscle biopsy shows fibrosis and increased connective tissue

•

en:myopathic changes seen on biopsy

•

en:myopathic and neurogenic changes seen on emg

•

en:muscle weakness and atrophy, proximal

•

en:muscle weakness, predominantly proximal (in some patients)

•

en:muscle weakness, distal (in some patients)

•

en:muscle cramp

•

en:muscle biopsy shows sarcoplasmic or subsarcolemmal vacuoles in muscle fibers

•

en:muscle biopsy shows abnormal mitochondria

•

en:neck muscle hypoplasia

•

en:muscle biopsy shows 60-80-nm tubular aggregates arranged in hexagonal arrays in type 2 fibers

•

en:muscle atrophy restricted to the upper limb

•

en:muscle atrophy (1 patient)

•

en:muscle atrophy, mild

•

en:mri may show cervical spinal cord atrophy

•

en:minimal subcutaneous fat

•

en:lymphography shows hypoplasia of lymphatic vessels

•

en:myopathy in approximately 45% of patients

•

en:necrotic and atrophic fibers with centralized nuclei seen on muscle biopsy

•

en:loss of adipose tissue occurs around puberty

•

en:skeletal muscle weakness

•

en:some patients never achieve ambulation

•

en:walking delay

•

en:symmetrical, proximal limb muscle atrophy (pelvic, scapular, trunk muscles)

•

en:subsarcolemmal hyaline bodies in type 1 fibers only

•

en:subcutaneous fat markedly reduced

•

en:sparing of small hand and finger muscles

•

en:small and incompletely fused muscle fibers seen on biopsy

•

en:skeletal muscle damage

•

en:nemaline bodies (rods) on gomori trichrome staining seen on muscle biopsy

•

en:rimmed vacuoles with basophilic granular material

•

en:relatively preserved limb strength

•

en:proximal and distal muscle atrophy in lower limbs

•

en:protein aggregates immunopositive for actin and desmin

•

en:peroneal muscle atrophy

•

en:normal sensation

•

en:normal neonatal period may occur before weakness is apparent

•

en:neonatal hypotonia muscle biopsy shows pas-positive vacuoles

•

en:lymphedema of the extremities

•

en:type 1 fibers are at least 12% smaller than type 2 fibers

•

en:lack of facial subcutaneous fat

•

en:berardinelli-seip congenital lipodystrophy

•

en:deficiency of mitochondrial complexes i, iii, and iv

•

en:decremental response of compound muscle action potential on repetitive nerve stimulation

•

en:decreased postsynaptic length

•

en:decreased mitochondrial complex iv activity (in some patients)

•

en:cores with lack of oxidative activity and mitochondrial depletion may also be found and extend along length of fiber

•

en:congophilic deposits

•

en:calf muscle hypertrophy

•

en:areflexia of lower limbs

•

en:deposits immunoreactive to beta-amyloid protein

•

en:amyloid deposition in muscle fibers occurs rarely

•

en:accumulated lipid droplets seen on muscle biopsy

•

en:abnormal changes in the organization of the sarcolemma and the subsarcolemmal membrane cytoskeleton

•

en:weakness of anterior compartment tibial muscles

•

en:variation of fiber size and shape

•

en:thenar amyotrophy (rare)

•

en:subcutaneous lipomatous tissue

•

en:increased muscle tone (early in life)

•

en:delayed motor development (cvs+)

•

en:tetanus-like muscle contractions

•

en:distal limb muscle atrophy, lower more than upper

•

en:focal lymphocytic and macrophage infiltrates on biopsy

•

en:increased centralized internal nuclei

•

en:increased endomysial connective tissue around muscle fibers

•

en:hypotonia, fixed

•

en:hypoplastic deltoids

•

en:humeroperoneal weakness and atrophy

•

en:heterotopic bone formation in subcutaneous fat

•

en:gait unsteady

•

en:generalized muscle contractions, episodic

•

en:flaccid weakness or paralysis, episodic attacks

•

en:finger and wrist extensor weakness

•

en:face edema

•

en:emg shows myopathy

•

en:edema, generalized

•

en:dystrophic changes may be present

•

en:distal muscle weakness, affecting the lower limbs

•

en:distal muscle atrophy, predominantly lower limbs

•

en:distal limb muscle weakness, lower more than upper

•

en:onset of lymphedema around puberty

•

en:proximal muscle weakness and atrophy (may occur later)

•

en:proximal muscle involvement may occur

•

en:positive staining for slow myosin heavy chain

•

en:patients may have distal or proximal muscle weakness, or both

•

en:patchy muscle fiber degeneration

•

en:muscle hypertrophy

•

en:normal or decreased facial and neck adipose tissue

•

en:neck flexor weakness

•

en:myopathic changes early in disease seen on emg

•

en:muscular rigidity

•

en:muscular dystrophy with variable age of onset (infancy to young adult)

•

en:muscle weakness usually does not occur

•

en:muscle weakness, proximal, due to neuronopathy begins in the lower limbs and then progresses to upper limbs

•

en:muscle weakness, distal more than proximal

•

en:muscle fatigability

•

en:rectus abdominis muscle separation

•

en:spasticity

•

en:replacement of myofibers with connective tissue

•

en:velopharyngeal muscle weakness

•

en:abnormal mitochondria in skeletal muscle biopsy

•

en:muscle biopsy shows decrease or absence of cytochrome c oxidase

•

en:z-disks with abnormal homogeneous material

•

en:wrist swelling

•

en:wide variation in fiber size

•

en:weakness, axial and limb muscles, upper limb muscles more affected than lower limbs

•

en:waddling gait

•

en:upper limb muscle weakness may be more severe than lower limb weakness

•

en:rhabdomyolysis (in some patients)

•

en:type ii fiber atrophy seen on muscle biopsy

•

en:thickening of fascia of forearm

•

en:small rounded fibers

•

en:skeletal myopathy

•

en:skeletal muscle biopsy shows enlarged mitochondria with abnormal cristae decreased mitochondrial complex i activity

•

en:shortening of various muscle-tendon groups in feet

•

en:secondary myopathic changes

•

en:sarcomere disappearance seen on muscle biopsy

•

en:muscle biopsy shows no dystrophic changes

•

en:generalized muscular appearance from birth

•

en:muscle biopsy shows decreased numbers of acetylcholine receptors (achr) in the postsynaptic membrane (less than 50% of normal)

•

en:decreased cytochrome c oxidase staining

•

en:edema

•

en:distal muscle weakness

•

en:distal muscle atrophy, affecting the lower limbs

•

en:disorganized myofilaments seen on muscle biopsy

•

en:decreased mitochondrial respiratory chain complex activity

•

en:decreased mitochondrial complex v activity

•

en:decreased exercise tolerance

•

en:decreased activity of mitochondrial complex iii

•

en:emg shows chronic denervation

•

en:congenital muscular dystrophy (disorder)

•

en:biopsy shows rimmed vacuoles, central nuclei, and variation in fiber size

•

en:biopsy shows deposition of complement proteins c5b-9 of the membrane attack complex on muscle fibers

•

en:absence of telethonin protein

•

en:absence of spontaneous activity at birth (severe form)

•

en:abnormal fat accumulation in axillae (in some patients)

•

en:absence of necrosis

•

en:edema (hands and feet)

•

en:emg shows myopathic pattern

•

en:muscle biopsies show variation in fibrodiameter, internal nuclei, atrophy of type i fibers, focal loss of cross- striations, and cores of myofibrillar disruption with associated absence of mitochondria

•

en:loss of truncal subcutaneous adipose tissue

•

en:muscle atrophy later in the disease

•

en:muscle atrophy, limb-girdle and proximal

•

en:muscle atrophy, distal, particularly affecting the hands muscle biopsy shows variation in fiber size

•

en:muscle atrophy

•

en:muscle aches, cramps

•

en:minicore-like lesions with mitochondrial depletion and sarcomeric disorganization

•

en:lower limbs more often affected

•

en:loss of subcutaneous adipose tissue from gluteal region

•

en:glycogen accumulation seen on biopsy

•

en:loss of ambulation (in some patients)

•

en:lipid droplets seen on muscle biopsy

•

en:inguinal hernia

•

en:increased endo- and perimysial connective tissue

•

en:inclusions are dnajb6-immunoreactive

•

en:hypotonia, neonatal and later

•

en:hypertonicity (uncommon)

•

en:abnormal sarcoplasmic reticulum elements

•

en:distal muscle weakness, lower limbs more severely affected than upper limbs

•

en:accumulation of intrasarcoplasmic granulofilamentous aggregates that are immunoreactive to desmin and alpha-beta-crystallin

•

en:muscle weakness, proximal, distal, and axial, severe

•

en:necrotic fibers

•

en:neck and proximal limb muscle myopathy

•

en:myopathic changes seen on emg and muscle biopsy

•

en:muscular hypotonia of the trunk

•

en:muscle weakness trunk

•

en:muscle weakness of limb

•

en:muscle weakness lower limb

•

en:muscle biopsy with small a-fibers, increased pas-positive material, and ringbinden (disoriented myofibrils)

•

en:nemaline myopathy (in 1 reported male)

•

en:muscle biopsy shows type 1 fiber predominance

•

en:muscle biopsy shows nemaline rods

•

en:muscle biopsy shows mild dystrophic changes

•

en:muscle biopsy shows decreased secondary clefts

•

en:muscle biopsy in acute stage shows increased numbers of abnormal mitochondria

•

en:mtdna depletion seen on muscle biopsy

•

en:mild variability in muscle fiber size

•

en:nemaline bodies are usually subsarcolemmal or sarcoplasmic

•

en:no myofibrillar abnormalities or protein aggregation

•

en:marked variability of fiber size

•

en:thickening of the fascial structures of the palm and fingers

•

en:attacks precipitated by rest after exercise

•

en:z-disk degeneration

•

en:weakness of the extensor muscles of the hands (initially)

•

en:type 2 muscle fiber predominance

•

en:tubulofilamentous nuclear or cytoplasmic inclusions on biopsy

•

en:triceps aplasia

•

en:transient neonatal hypotonia (less common)

•

en:subsarcolemmal accumulation of normal mitochondria (in some patients)

•

en:plaques immunoreactive for desmin and alpha-beta-crystallin

•

en:skeletal muscle biopsy shows misplaced mitochondria

•

en:skeletal muscle biopsy shows fat droplets in sarcoplasm and mitochondria

•

en:shoulder girdle muscle atrophy

•

en:retain some mechanical adipose tissue (joints, orbits, palms, soles)

•

en:ragged red fibers seen on biopsy

•

en:proximal muscle weakness, mild

•

en:prominent involvement of the quadriceps femoris muscles

•

en:mild distal muscle atrophy

•

en:type ii fiber predominance

•

en:lower limb atrophy

•

en:cox-negative fibers seen on muscle biopsy

•

en:distal muscle weakness, mild

•

en:difficulty walking, running

•

en:defective mitochondrial oxidative phosphorylation of multiple enzymes

•

en:decreased sarcolemmal immunostaining for ptrf

•

en:decreased endplate potential and amplitudes

•

en:decreased achr at the endplate

•

en:decreased acetylcholine receptors (achr) at endplate junctional folds (less common)

•

en:congenital, nonprogressive myopathy

•

en:emg shows neurogenic changes consistent with denervation

•

en:chronic denervation seen on skeletal muscle biopsy

•

en:calf pseudohypertrophy rare

•

en:calf atrophy (later onset)

•

en:biopsy shows degenerative changes consistent with myopathy

•

en:bilateral foot drop

•

en:a subset of patients have aggravation on cold exposure ('cold paresis')

•

en:lower limbs more affected than upper limbs

•

en:emg shows myopathic changes

•

en:biopsy of adipose tissue shows reduced adipocyte size

•

en:enlarged vesicles of sarcoplasmic reticulum origin

•

en:hypotonia, infantile, severe

•

en:involves upper and lower proximal muscles

•

en:lipid and glycogen accumulation

•

en:increased muscle tone in the lower limbs

•

en:increased fiber size variability

•

en:inclusions show positive immunostaining for sqstm1 and ubiquitin

•

en:eosinophilic inclusions

•

en:hypotonia (2 patients)

•

en:impaired toe-walking

•

en:hypotonia

•

en:hypertonia late

•

en:haemorrhage subcutaneous

•

en:gait abnormalities (occurs later)

•

en:frontalis muscle weakness

•

en:forearm muscle weakness

•

en:fat pad between achilles tendon and medial malleolus

•

en:exercise intolerance (also seen in some heterozygotes)

•

en:limb muscle weakness, proximal, upper and lower

•

en:noninflammatory myopathy with rimmed vacuoles and atrophic fibers seen on muscle biopsy

•

en:necrotic process

•

en:myotonia (delayed muscle relaxation after contraction)

•

en:myopathy (rare)

•

en:myopathy, nonprogressive

•

en:muscular dystrophy

•

en:muscle atrophy, mild, more proximal than distal

•

en:muscle mounding

•

en:muscle cramps affect the upper and lower limbs

•

en:muscle biopsy shows myofibrillar disruption

•

en:muscle biopsy shows merosin (156225)-positive muscle fibers

•

en:muscle biopsy shows fiber type variation (in some patients)

•

en:muscle biopsy shows dystrophic features

•

en:muscle biopsy shows disruption of the sarcolemmal membrane

•

en:multiple mitochondrial respiratory enzymes deficiencies seen on biopsy

•

en:pelvic girdle weakness and atrophy

•

en:slowly-progressive muscle wasting and weakness with humeroperoneal and scapuloperoneal distribution

•

en:poor muscle bulk

•

en:toe-walking gait

•

en:absence of collagen vi immunostaining

•

en:mildly decreased cytochrome c oxidase activity

•

en:abnormal iron deposition in mitochondria

•

en:weakness of the anterior tibial muscle and toe extensors

•

en:vacuolar myopathy may occur

•

en:tubulofilamentous nuclear or cytoplasmic inclusions (15-18 nm)

•

en:subsarcolemmal mitochondrial aggregates

•

en:prominent involvement of the biceps brachii muscles

•

en:subsarcolemmal lipofuscin-positive deposits

•

en:short and thickened z-discs

•

en:shortening of flexor profundus muscle-tendon unit

•

en:rigidity (uncommon)

•

en:ragged-red fibers seen on muscle biopsy

•

en:proximal muscle weakness (in some patients)

•

en:prominent veins, lower limbs

•

en:mitochondria show paracrystalline inclusions

•

en:emg in myotonia permanens shows continuous myotonic activity

•

en:marked loss of subcutaneous fat in the limbs, face, and sometimes chest

•

en:calf muscle weakness

•

en:degenerative changes with increased connective tissue

•

en:defect in glycosylation of alpha-dystroglycan seen on skeletal muscle biopsy

•

en:decreased activity of mitochondrial complexes i and iv seen on skeletal muscle biopsy

•

en:cox-negative fibers

•

en:cox-deficient fibers

•

en:central nuclei

•

en:calf and thigh cramping muscle pains

•

en:distal amyotrophy

•

en:atrophy of the muscles in the anterior compartment of the lower leg

•

en:anterior tibial muscles first involved

•

en:ankle edema (finding)

•

en:amyotrophy of the upper limbs (in some patients)

•

en:adipose tissue shows many adipocytes with multiple small lipid droplets rather than a normal single lipid droplet

•

en:absence of pectoralis minor muscle

•

en:aggregates contain granular electron-dense material

•

en:difficulty rising from chair

•

en:dysarthria

•

en:lymphedema of lower limbs (in some patients)

•

en:hypertrophy of calves (in 3 of 6 patients)

•

en:lower and upper limbs affected

•

en:localized cellulitis

•

en:lipodystrophy (in some patients)

•

en:jitter

•

en:infantile muscular hypotonia

•

en:inability to sit or hold head up

•

en:hyaline inclusion

•

en:emg shows neurogenic changes

•

en:gluteus maximus and thigh adductors most affected

•

en:generalized muscle hypertrophy

•

en:foot extensor muscle weakness (later onset)

•

en:fat pad anterior to malleolus

•

en:facial muscle atrophy of involved side

•

en:exercise-induced myalgia

•

en:enlarged terminal cisternae of the sarcoplasmic reticulum

•

en:absence of some scapular muscles (less common)

•

en:decreased muscle mass

•

en:atrophy, mild (in some cases)

•

en:muscle weakness, proximal greater than distal

•

en:myotonia

•

en:myopathy (in some patients)

•

en:myopathy

•

en:muscular weakness, improving in infancy (medical research council muscle score of 3 to 4)

•

en:muscle weakness of the face and neck, mild to moderate

•

en:muscle weakness and atrophy, distal

•

en:muscle weakness, distal, particularly affecting the hands

•

en:neonatal hypertonias

•

en:muscle weakness

•

en:muscle strength and bulk is preserved

•

en:muscle spasm

•

en:muscle pain and cramps following exercise

•

en:muscle hypertrophy (meb)

•

en:muscle fiber necrosis

•

en:myotonia, potassium-sensitive (may be responsive to acetazolamide)

•

en:normal dystrophin immunostaining

•

en:muscle biopsy shows ragged red fibers

•

en:shoulder girdle weakness

•

en:vacuoles are autophagocytic

•

en:upper limb weakness

•

en:thenar eminence hypoplasia

•

en:tetany

•

en:symptoms are progressive for a few years, and then become stationary

•

en:attacks last 4 to 24 hours

•

en:severe disability within 20 years of onset

•

en:no muscle fiber necrosis

•

en:secondary hypertrophy

•

en:respiratory distress (congenital form)

•

en:relative sparing of the rectus femoris

•

en:quadriceps muscle spared

•

en:pyruvate oxidation defect

•

en:proximal muscle weakness in lower limbs

•

en:prominent musculature

•

en:muscle biopsy shows type 2 fiber atrophy

•

en:slim, muscular build (in some patients)

•

en:muscle biopsy shows pas-positive glycogen-containing vacuoles

•

en:disorganization of the neuromuscular junction

•

en:fasciculations (less common)

•

en:extensive fatty infiltration on biopsy

•

en:endomysial fibrosis

•

en:emg shows fasciculations

•

en:electromyographic decrements in some muscles

•

en:easily fatigued (finding)

•

en:diastasis recti

•

en:fatty replacement in hip muscles and proximal muscles of the lower limb seen on mri

•

en:dependent edema after excess fat has been present for several years

•

en:decreased mitochondrial respiratory activities (in some patients)

•

en:decreased levels and activity of mitochondrial respiratory complexes i and iv

•

en:decreased activity of complexes ii+iii

•

en:bulbar weakness

•

en:biopsy shows deposition of complement proteins c5b-9 of the membrane attack complex on muscle fibers or in vacuoles

•

en:muscle biopsy may show mild kinetic abnormalities of the achr

•

en:fatty degeneration of muscle seen on mri

•

en:cores have abrupt borders within normal regions of the muscle fiber

•

en:fibrous dysplasia (rare)

•

en:lower limb muscle atrophy (in 2 of 3 families)

•

en:hand and foot weakness

•

en:mri of the thighs shows fatty atrophy with preservation of the biceps femoris in the lateral compartment

•

en:mildly decreased laminin alpha-2 expression (lama2, 156225)

•

en:marked muscular hypertrophy

•

en:lymphedema of the lower limbs (swelling is confined to below the knees)

•

en:lower limb muscle weakness (in 2 of 3 families)

•

en:minicores or core-like regions may be present

•

en:lipomas or lipomatous masses (most cases)

•

en:inclusions are tdp43-immunoreactive

•

en:hypoglycosylation of alpha-dystroglycan

•

en:lipohypoplasia, regional

•

en:muscle atrophy in the limbs

•

en:leg cramps may occur with exercise

•

en:indentations or folds of the sarcolemma are connected to the membranes enclosing the vacuoles

•

en:interfibrillar and subsarcolemmal vacuoles

•

en:myogenic profile on electromyography

•

en:muscle biopsy shows myofibrillar myopathy

•

en:muscle biopsy shows necrotic and regenerating fibers

•

en:muscle biopsy shows neurogenic changes

•

en:muscle biopsy shows pleomorphic hyaline, granular, and amorphous deposits that stain with gomori trichrome

•

en:muscle biopsy shows type i fiber predominance

•

en:muscle fibers may contain abnormal polysaccharide

•

en:muscle cramps at rest

•

en:muscle biopsy shows fiber type disproportion

•

en:muscle fiber splitting and fibrosis seen on muscle biopsy

•

en:muscle weakness, proximal, pelvic girdle (in severe cases)

•

en:muscle weakness, severe, diffuse

•

en:muscular appearance

•

en:muscle paralysis, episodic

•

en:limb-girdle muscle weakness (2 families)

•

en:muscle biopsy shows deficiency of mitochondrial respiratory enzymes i, iii, iv, and iv

•

en:muscle biopsy may show deficiency of multiple mitochondrial respiratory complexes

•

en:lymphedema, dorsa of feet

•

en:loss of subcutaneous adipose tissue primarily in gluteal region and lower limbs

•

en:loss of ambulation between third and sixth decade

•

en:lipodystrophy, generalized, panniculitis-induced (in some)

•

en:limb weakness and atrophy

•

en:internal nuclei seen on biopsy (in some patients)

•

en:inflammatory cells absent

•

en:increased muscle glycogen content

•

en:increased focal mitochondrial density

•

en:increased connective tissue (in some patients)

•

en:hypotonia (cvs+)

•

en:necrosis and degeneration seen on muscle biopsy

•

en:myotonia is usually not seen

•

en:slowly progressive limb-girdle myopathy

•

en:normal or increased truncal adipose tissue

•

en:skeletal muscle biopsy showed mitochondrial complex i deficiency (1 family)

•

oedème de la face

•

en:weakness of the muscles in the anterior compartment of the lower leg (particularly the tibialis anterior muscle)

•

en:weakness of neck muscles may occur later

•

en:weakness and wasting of the lower limbs

•

en:wasted lower leg muscles

•

en:variation of myofiber diameter

•

en:vacuole membranes show atpase reactivity consistent with origin from the sarcoplasmic reticulum

•

en:vacuolar myopathy

•

en:tubular aggregates seen on biopsy

•

en:tremor at birth, involving most skeletal muscle groups, especially jaw muscles and lower limb muscles

•

en:toe and foot dorsiflexor weakness

•

en:tendon tears

•

en:sparing of the brachioradialis muscle (gives appearance of 'oblique amyotrophy')

•

en:scapular muscle atrophy

•

en:onset of weakness in hands and feet

•

en:rhabdomyolysis with exercise (in older patients)

•

en:rhabdomyolysis, episodic and recurrent

•

en:red-ragged fibers (2p21del)

•

en:rectus fascia separation

•

en:proximal muscles may be mildly affected

•

en:proximal lower limb muscle weakness, later (in some patients)

•

en:proximal limb muscle weakness initially

•

en:proximal amyotrophy

•

en:progressive proximal muscle involvement

•

en:peroneal muscle weakness and atrophy due to peripheral neuropathy

•

en:pelvic girdle muscle atrophy

•

en:partial lipodystrophy (abnormal distribution of subcutaneous adipose tissue)

•

en:pain or cramping during sustained manual activity

•

en:hyporeflexia in affected muscles

◀

Génériques

[F] [H]

›

en:pain

• Mathieu Lafourcade • LIRMM (données libres en Creative Commons - C0 domaine public) •

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=7119672 • caches: c1=52 c2=1830 c3=2

+/-

♥

po

la

ti

le

as

ku

co

lo

to

ta

ta

xe

po

li

?!

!?

[Vider le cache]