Le Diko - en:lymphography shows hypoplasia of lymphatic vessels

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Le Diko - en:lymphography shows hypoplasia of lymphatic vessels

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le dictionnaire d'associations lexicales
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en:lymphography shows hypoplasia of lymphatic vessels

Nom

Informations lexicales

Langue:anglais

Associations d'idées

1000

en:slim, muscular build (in some patients)

•

en:muscle biopsy shows rimmed vacuoles

•

en:skeletal muscle tissue shows 14 to 45% depletion of mitochondrial dna (mtdna)

•

•

en:decremental response to repetitive stimulation at neuromuscular junction

•

en:degenerating fibers

•

en:limb weakness and atrophy

•

en:mild endplate myopathy

•

en:limb-girdle muscle atrophy

•

en:myasthenic syndrome (hcs)

•

en:muscle biopsy shows neurogenic atrophy (1 patient)

•

en:calf muscle enlargement

•

en:nemaline bodies are rarely intranuclear

•

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

•

en:hypothenar muscle atrophy

•

en:degenerate mitochondrial on em

•

en:decreased hand grip strength

•

en:muscle biopsy shows ragged-red fibers with decreased cox activity

•

en:absence of muscle pseudohypertrophy

•

en:ankle reflex absent

•

en:distal muscle atrophy, upper and lower limbs, due to peripheral neuropathy mitochondrial complex iv deficiency

•

en:enlarged mitochondria

•

en:global muscle weakness

•

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

•

en:marked predominance of slow-twitch, oxidative (type 1) muscle fibers

•

en:muscle, weakness, distal, hands and fingers (in some patients)

•

en:muscle weakness, proximal more than distal

•

en:severe disability within 20 years of onset

•

en:decreased muscle mass

•

en:distal muscle weakness, lower legs

•

en:distal muscle weakness due to neuropathy

•

en:hypotonia, mild (1 patient)

•

en:misplaced mitochondria seen on skeletal muscle biopsy

•

en:partial lipodystrophy (abnormal distribution of subcutaneous adipose tissue) (1 family)

•

•

en:myositis (in some patients)

•

en:repetitive response to single nerve stimulus

•

en:edema is present at birth and then slowly decreases

•

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

•

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

•

en:floppy infant syndrome

•

en:tubular aggregates (in some patients)

•

en:muscle wasting in lower limbs

•

en:respiratory muscles may be involved (more common in juvenile-onset)

•

en:thickening of fascia of forearm

•

en:variation of myofiber diameter

•

en:lower limb muscle hypotrophy

•

•

en:muscle biopsy shows neurogenic atrophy

•

en:increased numbers of abnormally-shaped mitochondria in subsarcolemmal areas

•

en:distal lower limb anterior compartment weakness

•

en:decreased muscle mass (especially of limbs)

•

en:mild decrease in mitochondrial respiratory chain activity

•

en:repetitive response to single nerve stimulation

•

•

en:fiber size variation seen on muscle biopsy

•

en:lipid storage, mainly in type i fibers

•

en:large hypertrophied fibers

•

en:muscle biopsy shows ragged red fibers

•

en:distal amyotrophy

•

en:diastasis recti

•

en:type ii fiber predominance

•

en:rectus abdominis muscle separation

•

en:buffalo hump

•

en:distal muscle weakness may occur

•

en:frequent falls

•

en:hang weakness

•

en:loose connective tissue

•

en:lower limbs more often affected

•

en:muscle fiber splitting

•

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

•

en:distal muscle weakness due to peripheral neuropathy

•

en:abnormal mitochondria in skeletal muscle biopsy

•

en:hypotrophy of the small hand muscles

•

en:subcutaneous edema

•

en:ragged-red muscle fibers

•

en:sarcoplasmic inclusions

•

en:dystrophic changes seen on skeletal muscle biopsy

•

en:distal muscle weakness due to peripheral neuropathy, lower limbs more affected than upper limbs

•

en:distal muscle atrophy due to denervation

•

en:decreased muscle bulk (in one patient)

•

en:calf hypertrophy (uncommon)

•

en:paracrystalline inclusions

•

en:angulated atrophic muscle fibers

•

en:calf muscle hypertrophy

•

en:heterotopic bone formation in subcutaneous fat

•

en:hyaline plaques with absent oxidative activity

•

en:mild muscle atrophy in forearm muscles

•

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

•

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

•

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

•

en:shoulder muscle weakness (in some patients)

•

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

•

en:buffalo hump (rare)

•

en:distal muscle weakness occurs later

•

en:edema, subcutaneous, generalized

•

en:extensive fatty infiltration on biopsy

•

en:hangrip myotonia

•

en:increased length of endplate regions seen on muscle biopsy

•

en:prolonged endplate currents

•

en:decreased lipoic acid

•

en:electromyogram abnormal

•

en:hypotonia (1 patient)

•

en:mitochondrial myopathies

•

en:muscle aches, cramps

•

en:muscle paralysis, episodic

•

en:neuropathic or myopathic changes seen on emg

•

en:cytochrome c oxidase-negative fibers

•

en:proximal muscle involvement may occur

•

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

•

en:enlarged nuclei with central pallor

•

en:exercise intolerance (also seen in some heterozygotes)

•

en:increased numbers of endplate regions seen on muscle biopsy

•

en:loss of subcutaneous fat, diffuse

•

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

•

en:proximal muscle weakness in upper limbs

•

en:neurogenic changes later in disease seen on emg

•

en:congenital absence of gluteal muscles

•

en:amyloid deposition in muscle fibers occurs rarely

•

en:increased variability in muscle fiber diameter

•

en:proximal muscle weakness (in some patients)

•

en:skeletal muscle biopsy shows reducing bodies

•

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

•

en:abnormal aggregates of desmin and filamin c

•

en:decreased muscle bulk

•

en:distal muscle weakness

•

en:nonspecific myopathic changes seen on biopsy (in some patients)

•

en:generalized muscle weakness also seen in symptomatic carrier females

•

en:ragged red fibers seen on skeletal muscle biopsy

•

en:upper limb weakness

•

•

en:muscle weakness is predominantly of extremities and tongue

•

en:limb weakness, proximal followed by distal

•

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

•

en:nemaline rod formation

•

en:muscle weakness, severe, axial and proximal predominance

•

en:nemaline myopathy (in 1 reported male)

•

en:nemaline bodies are usually subsarcolemmal or sarcoplasmic

•

en:neck muscle hypoplasia

•

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

•

en:myofibril destruction (in some patients)

•

en:myalgia with febrile episodes (rare)

•

en:muscle weakness increases with age

•

en:muscle weakness associated with fasting or infection

•

en:muscle biopsy shows small fibers with central nuclei and accumulation of mitochondria in the central part of the fibers

•

en:muscle atrophy, diffuse, severe

•

en:muscle weakness, proximal, upper and lower limbs affected

•

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

•

en:muscle weakness, distal, particularly affecting the hands

•

en:muscle biopsy shows necrotic and regenerating fibers

•

en:muscle biopsy shows myofibrillar changes

•

en:muscle biopsy shows fiber type disproportion

•

en:muscle atrophy, proximal, upper and lower limbs

•

en:muscle atrophy, primarily in the legs

•

en:nonspecific myopathic changes seen on biopsy

•

en:neurogenic changes

•

en:severe muscle hypotonia at birth

•

en:nonspecific myopathy seen on biopsy

•

en:shoulder girdle muscle weakness and atrophy, progressive

•

en:uterine muscle may be stiff during pregnancy

•

en:type 1 fiber predominance seen on muscle biopsy

•

en:tubular aggregates seen on biopsy

•

en:tubular aggregates in muscle fibers may occur

•

en:trunk muscle atrophy

•

en:tremors subside over the first 2 to 3 months of life

•

en:symptoms may be induced by heat

•

en:subsarcolemmal hyaline bodies in type 1 fibers only

•

en:subsarcolemmal aggregates of abnormal mitochondria with concentric lamellar membranes

•

en:skeletal muscle biopsy shows impaired respiratory oxidation

•

en:mitochondrial dna deletion (1 patient)

•

en:normal muscle fiber (hcs)

•

en:secondary myopathic features

•

en:rounded, atrophic fibers (family a)

•

en:quadriceps aplasia

•

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

•

en:proximal lower limb amyotrophy

•

en:positive staining for slow myosin heavy chain

•

en:peroneal muscle weakness

•

en:no muscle fiber necrosis

•

en:no facial muscle involvement

•

en:normal or increased adipose tissue around the neck

•

en:mri may show cervical spinal cord atrophy

•

en:gastrocnemius and soleus muscles most affected

•

en:mitochondrial complex i deficiency

•

en:decreased activity of mitochondrial complexes i and iv

•

en:difficulty climbing stairs, jumping, running

•

en:denervation of skeletal muscles

•

en:decremental muscle response to repetitive nerve stimulation

•

en:decreased numbers of achr seen on muscle biopsy

•

en:decreased density of calcium release units

•

en:decreased coenzyme q10 levels in muscle

•

en:decreased amplitude of the miniature endplate potential (mepp) and current (mepc)

•

en:decreased adipose tissue around neck

•

en:decreased activity of mitochondrial complex i

•

en:cox-negative fibers seen on muscle biopsy

•

en:distal leg muscle atrophy

•

en:congophilic eosinophilic inclusions

•

en:cold sensitivity has been reported

•

en:chronic denervation/reinnervation seen on emg

•

en:calf hypertrophy (reported in 1 family)

•

en:areflexia of lower limbs

•

en:alimentary edema

•

en:absence of immunostaining for alpha-dystroglycan (family a)

•

en:abnormal fatigue

•

en:abnormal aggregation of mitochondria

•

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

•

en:difficulty walking, running

•

en:distal limb muscle weakness due to peripheral neuropathy

•

en:minicores (in some)

•

en:grip strength decreased

•

en:lymphedema of lower extremity

•

en:lymphangiectasia

•

en:loss of subcutaneous fat, generalized

•

en:impaired toe-walking

•

en:imaging shows progressive fatty infiltration of muscle

•

en:hypotonia (patient b)

•

en:hypotonia (families a and b)

•

en:hand muscle atrophy

•

en:hamstring and quadriceps muscles mildly affected

•

en:focal loss of cross striations seen on muscle biopsy

•

en:distal limb muscle weakness occurs later

•

en:focal degeneration of junctional folds ('honeycombed' appearance) see on muscle biopsy

•

en:exercise-induced muscle fatigue

•

en:endplate abnormalities

•

en:emg shows polyphasic continuous motor unit discharges

•

en:easy fatigue

•

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

•

en:distal muscle weakness, predominantly lower limbs

•

en:distal muscle weakness, occurs initially

•

en:distal muscle wasting due to peripheral neuropathy

•

en:distal muscle atrophy due to neurologic disease

•

en:vacuoles in the myofiber cytoplasm

•

en:decreased miniature endplate potential (mepp) and current (mepc)

•

en:z-band streaming

•

•

en:prolonged rise and decay of miniature endplate potentials (mepp)

•

en:pharyngeal muscle weakness

•

en:other mitochondrial complex enzyme activities may also be decreased

•

en:no staining for oxidative enzymes

•

en:normal or increased truncal adipose tissue

•

en:normal or increased facial adipose tissue

•

en:myopathy (in some patients)

•

en:myopathic findings on biopsy have been occasionally reported

•

en:myopathic features seen on biopsy

•

en:muscular atrophy

•

en:proximal muscle weakness, limb-girdle distribution

•

en:muscle weakness after cooling or on warming affected muscle

•

en:muscle weakness, variable

•

en:muscle weakness, proximal and distal

•

en:muscle weakness, mild, proximal and distal

•

en:muscle weakness, episodic

•

en:muscle hypotonia

•

en:muscle fiber immaturity

•

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

•

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

•

en:muscle biopsy shows chronic and active denervation

•

en:proximal and distal muscle atrophy in lower limbs

•

en:proximal muscle weakness, upper and lower limbs, due to peripheral neuropathy, later in disease course

•

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

•

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

•

en:z-disk streaming

•

en:z-line streaming see on electron microscopy

•

en:wide variation in fiber size

•

en:wheelchair dependency in 20% of patients by age 40

•

en:weakness of anterior compartment tibial muscles

•

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

•

en:variability in fiber size

•

en:thickened endplate basal lamina seen on muscle biopsy

•

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

•

en:spheroid bodies are composed of fine filamentous (myofibrillar) material

•

en:proximal muscle weakness more severe than distal muscle weakness

•

en:small nerve terminals

•

en:secondary loss of merosin and desmin

•

en:rupture of muscle

•

en:rhabdomyolysis (in some patients)

•

en:replacement of myofibers with connective tissue

•

en:reduced subcutaneous adipose tissue

•

en:reduced miniature endplate potential (mepp) amplitude

•

en:red-ragged fibers (2p21del)

•

en:rectus fascia separation

•

en:quadriceps atrophy

•

en:muscle biopsy shows angular atrophic fibers with granulovacuolar material (in some patients)

•

en:preserved nerve terminals seen on muscle biopsy

•

en:muscle amyotrophy

•

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

•

en:denuded postsynaptic regions

•

en:denervation seen on emg

•

•

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

•

en:decremental compound muscle action potential (cmap) in response to repetitive nerve stimulation

•

en:decreased mitochondrial respiratory complexes i and iv

•

en:decreased exercise tolerance

•

en:decreased amplitude of miniature endplate potentials (mepp)

•

en:decreased activity of multiple mitochondrial respiratory complex enzymes

•

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

•

en:easy bruisability of lower extremities

•

en:centralized myonuclei

•

en:cellulitis in lower limbs, recurrent

•

en:broad-based gait

•

en:biopsy shows myopathy without vacuoles

•

en:axial hypotonia (in some patients)

•

en:autophagic vacuoles with multilamellar structures seen on electron microscopy

•

en:atrophic muscle fiber on biopsy

•

en:asymmetric muscle involvement

•

en:mitochondrial dna depletion, severe

•

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

•

en:distal lower limb amyotrophy

•

en:areflexia due to muscle weakness

•

en:emg shows fibrillations

•

en:hypotonia, generalized, severe

•

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

•

en:emg shows myopathic features

•

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

•

en:lack of integrin alpha-7 staining

•

en:intranuclear inclusions (1 family)

•

en:intermyofibrillar and subsarcolemmal accumulation of electron-dense material (in some patients)

•

en:increased visceral fat

•

en:increased opening duration of acetylcholine receptor (achr)-induced ion channels

•

en:increased focal mitochondrial density

•

en:hypotonia (patient a)

•

en:lipodystrophy

•

en:hyporeflexia of lower limbs

•

en:fiber size variation (in some patients)

•

en:hyporeflexia

•

en:exercise-induced weakness

•

en:facial muscle atrophy of involved side

•

en:endomysial fibrosis

•

en:foot dorsiflexor weakness

•

en:haemorrhage subcutaneous

•

en:hand and foot weakness

•

•

en:pectoralis hypoplasia

•

en:myopathy, nonprogressive

•

en:no staining for periodic acid schiff (pas)

•

en:normal sensation

•

en:normal dystrophin immunostaining

•

en:muscle atrophy (1 patient)

•

en:neck and proximal limb muscle myopathy

•

en:myotonia is present in majority of cases

•

en:onset of weakness in hands and feet

•

en:muscle weakness, mainly proximal and axial

•

en:myopathic changes, nonspecific, seen on muscle biopsy

•

en:myogenic changes seen on emg

•

en:muscular dystrophy (in some patients)

•

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

•

en:muscle shows lipid accumulation

•

en:muscle hypertrophy

•

en:muscle fiber splitting and fibrosis seen on muscle biopsy

•

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

•

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

•

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

•

en:muscle biopsy shows abnormal mitochondria

•

en:poor head control in infancy

•

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

•

en:prominent muscular appearance

•

en:type 1 fibers with inclusions containing myh7 protein aggregates

•

en:mitochondrial vacuolization seen on muscle biopsy

•

en:abnormal irregular myofibrillar network

•

en:abnormal distribution of subcutaneous fat

•

en:milroy disease

•

en:z-disk degeneration

•

en:waddling gait

•

en:variation in fibrodiameter seen on muscle biopsy

•

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

•

en:upper limb involvement and distal muscle involvement may occur later in disease course (often by second decade)

•

en:type 1 muscle fiber predominance

•

en:triceps weakness

•

en:proximal muscle weakness, lower limbs, mild

•

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

•

en:subsarcolemmal accumulation of mitochondria seen on skeletal muscle biopsy

•

•

en:some patients never achieve ambulation

•

en:soft tissue or tendinous calcinosis may occur

•

en:scattered necrotic fibers

•

en:sarcoplasmic or subsarcolemmal vacuoles in muscle fibers seen on muscle biopsy

•

en:rhabdomyolysis with exercise (in older patients)

•

en:reduced postsynaptic cleft area

•

en:proximal muscle weakness, mild

•

en:muscle activity is electrically silent on emg

•

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

•

en:mild muscular hypotonia

•

en:congophilic amyloid material

•

en:difficulty rising from chair

•

en:deep finger muscle weakness

•

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

•

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

•

en:decreased muscle mass (predominantly in lower extremities)

•

en:decreased muscle mass, especially distally

•

en:decreased endplate potential and amplitudes

•

en:cores extend along length of muscle fiber

•

en:contractures of upper limbs (in some patients)

•

•

en:difficulty walking and climbing stairs

•

en:calf atrophy (later onset)

•

en:biceps aplasia

•

en:autophagic vacuoles seen on biopsy (in some patients)

•

en:attacks precipitated by rest after exercise

•

en:atrophic skeletal muscle fibers on myosin staining

•

en:accumulation of pas-positive polyglucosan material seen on muscle biopsy

•

en:abnormal mitochondria

•

en:abnormal jitter

•

en:abnormal iron deposition in mitochondria

•

en:absence of immunostaining for alpha- and beta-dystroglycan (family b)

•

en:difficulty standing

•

en:distal limb muscle atrophy due to peripheral neuropathy (lower limbs are more affected than upper limbs)

•

en:many fibers with internal nuclei

•

en:humeroperoneal weakness and atrophy

•

en:macroglossia

•

en:lipohypoplasia, regional

•

en:lipid and glycogen accumulation

•

en:limb muscular atrophy

•

en:limb-girdle muscle weakness, proximal, upper greater than lower

•

•

en:increased fatigability

•

en:hypotonia (patients a and c)

•

en:hypotonia, mild

•

en:hyporeflexia in affected muscles

•

en:greater sartorius involvement than gracilis involvement seen on mri

•

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

•

en:generalized muscle weakness, proximal and distal

•

en:foot extensor muscle weakness (later onset)

•

en:fiber-type grouping pattern

•

en:extensor finger muscle weakness

•

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

•

en:emg in myotonia permanens shows continuous myotonic activity

•

en:electrophysiologic studies show abnormal inactivation and delayed repolarization of the scn4a sodium channel

•

en:edema of lower extremity

•

en:dystrophic changes occur later

•

en:distal muscle weakness of the lower limbs secondary to peripheral neuropathy

•

en:abnormal variation in fiber type seen on muscle biopsy

•

en:evidence of reinnervation seen on emg (1 family)

•

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

•

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

•

en:progression to proximal muscle weakness

•

en:primarily affects lower limbs

•

en:preserved junctional folds

•

en:poor head control

•

en:peroneal muscle weakness and atrophy due to peripheral neuropathy

•

en:peroneal muscle atrophy

•

en:pelvic girdle weakness

•

en:nonspecific myopathic changes

•

en:neonatal edema (in some patients)

•

en:muscular hypotonia of the trunk

•

en:proximal muscles may be mildly affected

•

en:muscle weakness may affect upper limbs

•

en:muscle weakness begins proximally

•

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

•

en:muscle weakness, mainly proximal

•

en:muscle weakness, distal and proximal, lower limbs (1 family)

•

en:muscle rigidity

•

en:muscle hypertrophy (meb)

•

en:muscle biopsy shows variation in fiber size

•

en:muscle biopsy shows type 1 fiber predominance

•

en:muscle biopsy shows sarcoplasmic pas-positive vacuoles

•

en:proximal amyotrophy

•

en:proximal muscle atrophy (in some patients)

•

en:muscle biopsy shows disruption of the sarcolemmal membrane

•

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

•

en:aggregates contain granular electron-dense material

•

en:weakness of the anterior tibial muscle and toe extensors

•

en:weakness of neck extensors (rare)

•

en:virtually no active movement at birth (wws)

•

en:vacuoles containing neutral lipids seen on muscle biopsy

•

en:umbilical hernia

•

en:type i fibers with large, irregularly polygonal congophilic hyaline masses and nemaline rods consistent with nonlysosomal protein degradation

•

en:tubulofilamentous nuclear or cytoplasmic inclusions on biopsy

•

en:tubular aggregates seen on muscle biopsy

•

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

•

en:subcutaneous lipomatous tissue

•

en:proximal muscle weakness (occasional)

•

•

en:small and incompletely fused muscle fibers seen on biopsy

•

en:skeletal muscle weakness

•

en:shortened open channel duration

•

en:severe muscle wasting and atrophy, primarily in the legs

•

•

en:redundancy of basal lamina with accumulated debris

•

en:ragged red fibers (in some patients)

•

en:pseudoathletic appearance with prominent muscles before disease onset

•

en:proximal weakness

•

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

•

en:underdeveloped muscles (in some patients)

•

en:minicores extend full fiber diameter

•

en:decreased cytochrome c oxidase staining

•

en:distal muscle weakness in lower limbs, severe

•

en:distal muscle weakness, mild

•

en:distal limb muscle weakness due to peripheral neuropathy (lower limbs are more affected than upper limbs)

•

en:distal limb muscle weakness, lower more than upper

•

en:disruption of the sarcolemmal membrane seen on muscle biopsy

•

en:depletion of mitochondrial dna

•

en:delayed ambulation

•

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

•

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

•

en:decreased mitochondrial respiratory chain complex activity

•

en:decreased caveolin-3 expression seen on muscle biopsy

•

en:edema reoccurs with infections

•

en:decreased activity of mitochondrial complex iii

•

en:cytoplasmic inclusion bodies (finding)

•

en:cox-deficient fibers

•

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

•

en:calf hypertrophy (less common)

•

en:calcific tendinopathy, early-onset (in some patients)

•

en:a subset of patients develop bilateral weakness

•

en:attacks precipitated by potassium

•

en:amorphous granulofilamentous material associated with z-discs

•

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

•

en:dystrophic skeletal muscle seen on biopsy

•

en:bilateral foot drop

•

en:electromyogram normal

•

en:increased fiber size variability

•

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

•

•

en:lipid droplets seen on muscle biopsy

•

en:increased variation in fiber size seen on muscle biopsy

•

en:increased variability of fiber size seen on muscle biopsy

•

en:increased muscle tone in the lower limbs

•

en:increased muscle tone (early in life)

•

en:increased mitochondria with rare paracrystalline inclusions

•

en:increased lipid droplets and abnormal mitochondria

•

en:levator palpebrae superioris atrophy

•

en:increased falls

•

en:forearm muscle weakness

•

en:emg shows myopathic pattern

•

en:hypotonia (in some patients)

•

en:fiber necrosis

•

en:fiber type variation

•

en:loss of subcutaneous adipose tissue from gluteal region

•

en:hypotonia, truncal and appendicular

•

en:hypoplasia of infraspinatus muscle

•

en:hypoplasia of supraspinatus muscle

•

en:hypotonia, severe, persistent

•

en:generalized muscle wasting

•

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

•

en:myotonia seen on emg

•

en:myopathy (rare)

•

en:muscle weakness lower limb

•

en:muscle weakness (in 90% of patients)

•

en:muscle weakness, proximal, limb-girdle

•

en:muscle wasting, severe, primarily in the legs

•

en:muscle pain (less common)

•

en:muscle hypertrophy in affected area

•

en:muscle fiber necrosis

•

en:muscle biopsy shows nonspecific myopathic changes

•

en:muscle fibers contain internal nuclei

•

en:muscle biopsy shows neurogenic atrophy affecting both fibers types

•

en:muscle biopsy shows mitochondrial paracrystalline inclusions

•

en:muscle biopsy may show inflammatory changes

•

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

•

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

•

en:minimal muscle mass

•

en:nearly complete absence of mechanical adipose tissue (joints, orbits, palms, soles)

•

en:mild variability in muscle fiber size

•

en:muscle atrophy in the limbs

•

en:skeletal muscle shows dystrophic changes

•

en:no myofibrillar abnormalities or protein aggregation

•

en:structurally abnormal mitochondria

•

en:weak extraocular muscles

•

en:lymphedema, hands (rare)

•

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

•

en:variable deficiencies of mitochondrial respiratory chain enzymes

•

en:vacuoles appear to be exocytosing material at the cell surface

•

en:vacuolar myopathy may occur

•

en:toe-walking gait

•

en:swelling of the hands and feet (in 1 patient)

•

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

•

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

•

en:skeletal myopathy

•

en:ragged-red fibers seen on muscle biopsy

•

en:pseudohypertrophy of muscle

•

en:proximal muscle weakness occurs later

•

en:presynaptic defect at the neuromuscular junction

•

en:peripheral edema

•

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

•

en:pena-shokeir syndrome type i

•

en:pelvic girdle muscle weakness (occurs earlier)

•

en:lymphography shows increased number of dilated lymphatic vessels (hyperplasia)

•

en:distal lower limb muscle weakness and atrophy

•

en:low maximum workload on exercise testing

•

en:decreased atp production

•

en:disruption plasma membrane (in some patients)

•

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

•

en:degenerating mitochondria

•

en:deficiency of mitochondrial respiratory enzymes seen on muscle biopsy

•

en:decremental response on 3-hz repetitive nerve stimulation

•

en:decreased postsynaptic areas of clefts and folds seen on muscle biopsy

•

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

•

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

•

en:combined oxidative phosphorylation deficiency, complexes i and iv

•

en:distal muscles may be affected

•

en:central cores seen on muscle biopsy

•

en:biopsy shows myopathic and dystrophic changes

•

en:atrophy of the intrinsic foot and hand muscles

•

en:atrophy, neurogenic muscular

•

•

en:amyotrophy affects c5 to t1 myotomes

•

en:affected muscles show atrophy

•

en:abdominal wall muscle weakness (later onset)

•

en:abnormal mitochondrial morphology

•

en:distal limb muscle atrophy (less common)

•

en:distal muscle atrophy (lower limbs more affected than upper limbs)

•

en:lower limb muscle atrophy

•

en:generalized muscular appearance from birth

•

en:loss of facial adipose tissue

•

en:interfibrillar and subsarcolemmal vacuoles

•

en:increased muscle glycogen content

•

en:increased intramuscular fat

•

en:increased glycogen

•

en:increased endomysial fibrosis

•

en:inclusions are dnajb6-immunoreactive

•

en:hypotrophic type 2 muscle fibers

•

en:handgrip myotonia

•

en:generalized muscle weakness (less common)

•

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

•

en:generalized muscle weakness

•

en:finger and wrist extensor weakness

•

en:exercise capacity decreased

•

en:episodic weakness may or may not occur independent of myotonia

•

en:emg shows spontaneous, repetitive electrical activity ('myotonic runs')

•

en:emg shows myopathic changes

•

en:electron microscopy shows dense material emanating from the z-disk

•

en:distal muscular atrophy due to peripheral neuropathy

•

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

•

en:abnormalities in myofibril organization

•

en:abnormal fat distribution

•

en:abnormal size and shape of synaptic endplates

•

en:muscle cramps (also seen in some heterozygotes)

•

en:myopathic changes early in disease seen on emg

•

•

en:muscle weakness of proximal and distal upper and lower limbs

•

en:muscle weakness in forearm muscles

•

en:muscle weakness (affecting lower proximal extremities, abdominal wall, and iliopsoas muscle)

•

en:muscle weakness, proximal, slowly progressive

•

en:muscle weakness, congenital

•

en:muscle fiber splitting (in some patients)

•

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

•

en:myotonic discharges

•

en:muscle biopsy shows myofiber degeneration

•

en:muscle biopsy shows lipid deposition

•

en:muscles have a woody consistency on palpation

•

•

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

•

en:marked muscular hypertrophy

•

en:lymphedema (primarily in lower limbs, but also arms in some patients)

•

en:lower limbs more affected than upper limbs

•

en:loss of gluteal adipose tissue

•

•

en:myxedematous appearance

•

en:isolated necrotic fibers

•

en:skeletal muscle damage

•

en:absence of pectoralis minor muscle

•

en:wrist swelling

•

en:usually no myopathic changes on biopsy

•

en:type 1 fiber predominance

•

en:tibialis anterior muscle affected

•

en:subsarcolemmal mitochondrial aggregates

•

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

•

en:streaming of the z-disk seen on electron microscopy

•

en:some patients become wheelchair-dependent

•

en:severely decreased or absent lamp2 protein

•

en:necrotic and atrophic fibers with centralized nuclei

•

en:repetitive compound muscle action potentials (cmap) in response to single stimulus

•

en:relative muscle weakness, especially in pelvic girdle

•

en:proximal muscle weakness (85% of patients)

•

en:pectoralis major hypoplasia

•

en:partial lipodystrophy (abnormal distribution of adipose tissue)

•

en:painful muscle cramps

•

en:onset of lymphedema around puberty

•

en:neurogenic atrophy seen on muscle biopsy

•

en:nemaline bodies (rods) on gomori trichrome staining

•

en:limb-girdle myopathy

•

en:myopathy, mild to severe

•

en:independent walking may not be achieved

•

en:cores contain densely packed myofilaments

•

en:decreased sarcolemmal immunostaining for ptrf

•

en:decreased numbers of postsynaptic nerve terminals at the neuromuscular junction

•

en:decreased muscle mass in the thighs

•

en:decreased mitochondrial complex v activity

•

en:decreased coenzyme q10 content

•

en:decreased activities of several mitochondrial respiratory enzymes

•

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

•

en:cranial muscles spared

•

en:cox-negative fibers

•

en:congophilic deposits

•

en:distal limb muscle atrophy due to peripheral neuropathy

•

en:congenital muscular dystrophy (disorder)

•

en:atrophy of the small muscles in the hands and feet

•

en:atrophy, mild (in some cases)

•

en:angulated fibers

•

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

•

en:amyotrophy (1 patient)

•

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

•

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

•

en:absence of telethonin protein

•

en:decremental response to repetitive nerve stimulation

•

en:cytochrome-c oxidase deficiency

•

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

•

en:fat pads on the hands and feet

•

en:increased mitochondria seen on muscle biopsy

•

en:increased internal nuclei in skeletal muscle fibers

•

en:increased fibrosis (family a)

•

en:inclusions are tdp43-immunoreactive

•

en:imaging shows muscle atrophy and fatty replacement

•

•

en:hypertonicity (uncommon)

•

en:focal lymphocytic and macrophage infiltrates on biopsy

•

en:focal loss of cross- striations

•

en:head drop due to neck muscle weakness

•

en:fatty infiltration of affected muscles

•

en:enlarged vesicles of sarcoplasmic reticulum origin

•

en:endplate myopathy

•

en:emg shows reduction of voluntary recruitment

•

en:emg shows neurogenic changes consistent with denervation

•

en:dorsal and flexor muscles of the forearm are involved

•

en:distal myopathy (in 1 family)

•

•

en:distal muscle weakness, upper and lower limbs

•

en:distal muscle atrophy, predominantly lower limbs

•

en:muscle biopsy shows nemaline rods

•

en:muscle biopsy shows centralized nuclei

•

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

•

en:muscle biopsy shows myopathic or dystrophic changes

•

en:muscle pain following exercise (in some patients)

•

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

•

en:muscle biopsy shows type 1 fiber predominance and hypertrophy

•

en:muscle atrophy restricted to the upper limb

•

en:muscle stiffness (in older patients)

•

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

•

en:inflammatory cells absent

•

en:muscle atrophy, especially quadriceps and forearm muscles

•

en:minipolymyoclonus

•

en:merosin-positive biopsy

•

en:lymphedema (lower limb)

•

en:loss of truncal subcutaneous adipose tissue

•

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

•

en:lipoatrophy of trunk

•

en:lipid droplet accumulation

•

en:intracellular granular osmiophilic deposits

•

en:increased variation in fiber size (in some patients)

•

en:muscle weakness (cvs+)

•

en:muscle weakness, severe, proximal and distal

•

en:shortening of various muscle-tendon groups in feet

•

en:muscle weakness and atrophy

•

en:primary myopathic changes seen on emg

•

en:impaired heel-walking

•

en:smooth muscle may also become involved

•

en:sarcoplasmic accumulation of electron-dense granulofilamentous material

•

en:rimmed vacuoles

•

en:reduced muscle bulk

•

en:proximal upper limb amyotrophy

•

en:proximal muscle weakness (120270.0002)

•

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

•

en:progressive muscle weakness

•

en:postsynaptic abnormalities

•

en:myofibrillar disintegration

•

en:positive staining for atpase activity at ph of 4.3

•

en:plasma membrane discontinuities

•

en:phagocytic vacuoles with degraded membranous material

•

en:paralysis of the lower limbs (later)

•

en:numerous vacuole-like areas

•

en:normal phosphorylase kinase activity in muscle

•

en:necrotic and regenerating muscle fibers

•

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

•

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

•

en:myopathic changes seen on emg and muscle biopsy

•

en:inability to stand on tiptoes

•

en:absence of subcutaneous fat over entire body except buttocks, hips, and thighs

•

en:hypotrophy of type 1 fibers

•

en:carpopedal spasm

•

en:decreased thiamine pyrophosphate

•

en:decreased secondary clefts

•

en:decreased muscle density on imaging

•

en:decreased glycosylation of alpha-dystroglycan

•

en:decreased cytochrome c oxidase activity

•

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

•

en:decreased activities of complexes i and iv

•

en:cox-depleted fibers

•

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

•

en:biopsy shows nonspecific myopathy without rimmed vacuoles

•

en:degeneration of junctional folds

•

en:atrophy of type i fibers

•

en:atrophy of the thenar and hypothenar muscles

•

en:atrophic muscle fibers

•

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

•

en:accumulation of abnormal mitochondria

•

en:accelerated decay of the synaptic current

•

en:subsarcolemmal accumulations of abnormally shaped mitochondria seen with electronmicroscopy

•

en:absence of necrosis

•

en:abnormally long mitochondria seen on muscle biopsy

•

en:'sloping' shoulders due to muscle atrophy

•

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

•

en:degenerative features seen on muscle biopsy

•

en:hypotonia, severe, neonatal

•

en:fatty degeneration of muscle seen on mri

•

en:hypotonia, neonatal, severe (hcs)

•

en:hypertrophy of the extensor digitorum brevis muscles

•

en:hypertonia at birth

•

en:hip girdle muscle weakness (usually presenting symptom)

•

en:hemihypertrophy of right arm and leg (rare)

•

•

en:generalized weakness (adult-onset)

•

en:flaccid neck

•

en:fibrous dysplasia (rare)

•

en:fibrillations in affected muscles

•

en:facial diplegia

•

en:dense membranous structure surrounding nuclei on electron microscopy

•

en:emg and muscle biopsy shows chronic denervation of the peripheral nerves

•

en:edematous hands and feet (1 patient)

•

en:easily fatigued (finding)

•

en:disuse atrophy

•

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

•

en:distal muscle atrophy of the upper limbs (in some patients)

•

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

•

en:distal muscle atrophy, predominantly affecting the lower limbs

•

en:distal amyotrophy (hands and feet)

•

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

•

en:stiffness (uncommon)

•

en:abdominal muscle hypoplasia

•

en:thenar amyotrophy (rare)

•

en:myalgia (in some patients)

•

en:no lipodystrophy in face and neck

•

en:no dystrophic changes

•

en:nonspecific myopathy

•

en:nerve conduction studies normal

•

en:nemaline bodies occur in type 1 fibers

•

en:necrotic changes (finding)

•

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

•

en:myopathic pattern seen on emg

•

en:myopathic changes seen muscle biopsy

•

en:muscular dystrophy (in 1 of 3 patients)

•

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

•

en:muscle weakness usually does not occur

•

en:muscle weakness and atrophy, proximal

•

en:muscle weakness, primarily proximal

•

en:muscle weakness, predominantly proximal

•

en:muscle pain (in some patients)

•

en:muscle hypertonia

•

en:muscle cramps may affect jaw muscles

•

en:muscle cramps at rest

•

en:muscle biopsy shows small, membrane-bound vacuoles predominantly in type 2 fibers

•

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

•

en:panniculitis

•

en:preservation of visceral, neck, and axillary fat pads

•

en:muscle biopsy shows inflammation with t cells

•

en:tenderness of lower extremities

•

en:z-disks with abnormal homogeneous material

•

en:weakness and wasting of the lower limbs

•

•

en:upper limb involvement may occur later

•

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

•

en:truncal hypotonia (family a)

•

en:triceps aplasia

•

en:thigh hypertrophy

•

en:thenar eminence hypoplasia

•

en:swelling of the hands and feet, episodic

•

en:progressive loss of facial adipose tissue

•

en:subsarcolemmal accumulation of enlarged mitochondria with variably sized rectangular or elongated rhomboidal paracrystalline inclusions

•

en:signs of denervation seen on biopsy

•

en:shortened acetylcholine receptor (achr)-induced ion channel opening

•

en:scapuloperoneal weakness

•

en:scapuloperoneal amyotrophy

•

en:rigidity (uncommon)

•

en:retroperitoneal fibrosis (rare)

•

en:pyruvate oxidation defect

•

en:prolonged achr channel opening episodes

•

en:progressive proximal muscle involvement

•

en:muscle biopsy shows loss of myofibrillar organization

•

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

•

en:muscle biopsy shows hypoglycosylation of alpha-dystroglycan

•

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

•

en:exercise-induced muscle cramps

•

en:evidence of lymphatic rerouting

•

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

•

en:distal atrophy of the legs

•

en:decremental compound muscle action potential on repetitive stimulation

•

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

•

en:decreased cytochrome c oxidase (cox) activity and protein

•

en:decreased collagen vi

•

en:decreased ant1 protein (103220) in muscle tissue

•

en:contractures of distal lower limbs

•

en:fat pad between achilles tendon and medial malleolus

•

en:congenital myopathy (in one patient)

•

en:casq1-immunopositive inclusions

•

en:calf muscle weakness

•

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

•

en:atrophy of type 1 and type 2 fibers

•

en:atrophic fibers seen on biopsy

•

en:absence of caveolin-3 staining

•

en:weakness of neck muscles may occur later

•

en:transient muscle weakness occur in 75% of patients, particularly in the arms and hands

•

en:muscle biopsy shows glycogen accumulation in myofibrils and lysosomes

•

en:extensor muscle weakness more severe than flexor muscle weakness

•

•

en:filamentous inclusions in muscle fibers

•

en:lymphedema of lower limbs (in some patients)

•

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

•

en:flaccid weakness or paralysis, episodic attacks

•

en:muscle biopsy shows decreased glycosylation of alpha-dystroglycan

•

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

•

•

en:mitochondrial proliferation

•

en:mitochondrial myopathy, severe

•

en:marked variability of fiber size

•

en:marked lack of adipose tissue

•

en:lymphedema of the hands (in some patients)

•

en:mri shows increased connective tissue and fat

•

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

•

en:generalized amyoplasia

•

en:localized cellulitis

•

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

•

•

en:hamstring muscle affected

•

en:hematomas, recurrent large subcutaneous

•

en:hypoactive gag reflex

•

en:increased centralized nuclei

•

en:limb-girdle muscle weakness

•

en:lipodystrophy (in some patients)

•

en:loss of subcutaneous and visceral adipose tissue, mild

•

en:loss of subcutaneous fat, particularly affecting the limbs

•

en:low-amplitude compound muscle action potential (cmap)

•

en:lymphedema, dorsa of feet

•

en:lymphedema of upper and/or lower limbs (in some patients)

•

en:mild atrophy of the proximal lower limbs

•

en:mitochondrial dna depletion (in some)

•

en:multi-core congenital myopathy

•

en:muscle atrophy, progressive

•

en:muscles become hard and tender during exercise

•

en:muscle aches, intermittent

•

en:muscle atrophy, limb-girdle and proximal

•

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

•

en:muscle atrophy later in the disease

•

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

•

en:muscle biopsy shows cytochrome c oxidase-negative fibers

•

en:loss of ability to walk in early childhood

•

en:muscle biopsy shows dystrophic features

•

en:loss of lower-limb tendon reflexes

•

en:fat accumulation in the suprabuttock area

•

en:increased staining for myotilin, dystrophin, desmin

•

en:fatty deposition

•

en:muscle weakness, distal, restricted to the lower limbs

•

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

•

•

en:dystrophic changes on biopsy

•

en:electron microscopy shows subsarcolemmal accumulations of abnormally shaped mitochondria

•

en:emg - repetitive muscle discharges

•

en:exercise intolerance (less common)

•

en:facial edema

•

en:firm muscles

•

en:increased intraabdominal fat

•

en:focal areas of z-band disarray devoid of mitochondria seen on electron microscopy

•

en:fragmented mitochondrial network

•

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

•

en:hip girdle muscle atrophy

•

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

•

en:increased adipose fibrosis

•

en:increased connective tissue

•

en:increased glycogen in muscle (but to a lesser extent than in the heart)

•

en:muscle biopsy shows grouped atrophy

•

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

•

en:muscle weakness, symmetric, proximal, lower limbs

•

en:distal limb atrophy (upper and lower)

•

en:hereditary lymphedema and yellow nails

•

en:berardinelli-seip congenital lipodystrophy

•

oedème de la face

•

•

déficit en cytochrome oxydase

•

en:abnormal fiber size variation seen on muscle biopsy

•

en:myosin storage myopathy (in some patients)

•

en:gait disturbance

•

en:vacuolated muscle fibers show reduplication of the basement membrane

•

en:muscle twitch

•

•

fasciculation musculaire

•

en:generalized lack of subcutaneous fat

•

en:muscle atrophy, lower limbs more affected than upper limbs

•

en:muscular weakness

•

en:almost complete absence of large diameter fibers

•

en:enfeeblement of muscle

•

en:vacuoles are autophagocytic

•

en:transient neonatal hypotonia (less common)

•

en:muscle weakness restricted to the upper limb

•

en:progressive ectopic ossification (neck, dorsal trunk, proximal limbs, sternocleidomastoid, masseters)

•

en:myoclonic spasms

•

•

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

•

en:normal respiratory chain studies seen on muscle biopsy

•

en:paradoxical myotonia (myotonia increases with exercise)

•

en:pelvic girdle muscle atrophy

•

en:poor muscle build

•

en:poor muscle mass

•

en:proximal myopathy

•

en:toe and foot dorsiflexor weakness

•

en:ragged-red fibers on muscle biopsy

•

en:sarcomere disappearance seen on muscle biopsy

•

en:scapular muscle atrophy

•

en:shoulder muscle weakness

•

en:small atrophic muscle fibers

•

en:small type ii fibers

•

en:sparing of small hand and finger muscles

•

en:superficial rerouting of lymph through the skin

•

en:distal muscle weakness, predominantly affecting the lower limbs

◀

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

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=7119920 • caches: c1=6 c2=1002 c3=1

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