Le Diko - en:distal muscle atrophy (1 patient)

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Le Diko - en:distal muscle atrophy (1 patient)

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le dictionnaire d'associations lexicales
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(id=7119570)

en:distal muscle atrophy (1 patient)

Nom

Informations lexicales

Langue:anglais

Associations d'idées

1000

en:marked lack of adipose tissue

•

en:inclusion body myopathy

•

en:hypotonia (2 patients)

•

en:emg shows chronic denervation

•

en:deltoid muscle hypoplasia

•

en:decreased muscle mass (especially in lower limbs)

•

en:subsarcolemmal accumulations of abnormally shaped mitochondria seen on electron microscopy

•

en:muscle weakness, hypokalemia-related

•

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

•

en:muscle activity is electrically silent on emg

•

en:edematous hands and feet (1 patient)

•

en:dystrophic features and atrophic fibers seen on muscle biopsy

•

en:decreased achilles reflex

•

en:tubulofilamentous nuclear or cytoplasmic inclusions on biopsy

•

en:shoulder muscle weakness

•

en:progression to proximal muscle weakness

•

en:myopathic pattern seen on emg

•

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

•

en:mtdna depletion seen on muscle biopsy

•

en:mitochondrial myopathy

•

en:impaired heel-walking

•

en:dystrophic changes, mild, seen on muscle biopsy

•

en:autophagosome

•

en:pseudohypertrophy of muscle

•

en:proximal limb muscle weakness (occurs later)

•

en:pelvic girdle muscle weakness (occurs earlier)

•

en:muscle weakness, predominantly proximal

•

en:muscle hypertrophy in affected area

•

en:limb lymphedema (in some patients)

•

en:enlarged nuclei with central pallor

•

en:distal lower limb muscle weakness and atrophy

•

en:abdominal wall muscle weakness (later onset)

•

en:tubular aggregates mainly in type 1 fibers

•

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

•

en:neonatal hypotonia muscle biopsy shows pas-positive vacuoles

•

en:muscle biopsy shows decreased or absent dysferlin staining

•

en:lymphoscintigraphy shows impaired lymphatic uptake and drainage

•

en:large hypertrophied fibers

•

•

en:atrophy of neck muscles may occur later

•

en:upper and/or lower limbs may be affected

•

en:superior rectus atrophy

•

en:prominent involvement of the biceps brachii muscles

•

en:percussion-induced muscle mounding (muscle rippling)

•

en:panniculitis

•

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

•

en:mild decrease in mitochondrial respiratory chain activity

•

en:isolated mitochondrial complex iv deficiency seen on biopsy

•

en:distal muscle weakness, mild

•

en:distal limb atrophy (upper and lower)

•

en:difficulty running and jumping

•

en:complex v deficiency

•

en:proximal amyotrophy

•

en:nemaline bodies are usually subsarcolemmal or sarcoplasmic

•

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

•

en:involves upper and lower proximal muscles

•

en:abnormal fiber size variation seen on muscle biopsy

•

en:pelvic girdle weakness and atrophy

•

en:myxedematous appearance

•

en:myopathy with abnormal lipid metabolism

•

en:lymphangiectasia

•

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

•

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

•

en:decreased mitochondrial complex v activity

•

en:smooth muscle may also become involved

•

en:relative sparing of the rectus femoris

•

en:progressive distal and proximal symmetric limb weakness

•

en:muscle weakness, episodic

•

en:focal lymphocytic and macrophage infiltrates on biopsy

•

en:emg shows myotonic changes

•

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

•

en:decreased cytochrome c oxidase activity

•

en:decreased activity of mitochondrial respiratory complexes i, iii, and iv in muscle tissue

•

en:proximal muscle weakness, less severe

•

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

•

en:positive staining for slow myosin heavy chain

•

en:neck flexor weakness

•

en:muscle biopsy shows disruption of the sarcolemmal membrane

•

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

•

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

•

en:cores extend along length of muscle fiber

•

en:peroxisome biogenesis disorder 6b

•

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

•

en:muscle biopsy shows endplate myopathy (see details under neurologic heading)

•

en:motor clumsiness

•

en:hypertonicity of the lower limbs

•

•

en:progressive interictal weakness is common

•

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

•

en:mitochondrial proliferation

•

en:loss of gluteal adipose tissue

•

en:inability to jump or squat

•

en:global muscle weakness

•

en:congenital muscular dystrophy (disorder)

•

en:atrophic calf muscles

•

en:arm/shoulder muscle hypoplasia

•

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

•

en:recovery between attacks

•

en:proximal weakness

•

en:nemaline rods may be observed

•

en:myofibrillar myopathy

•

en:levator palpebrae superioris atrophy

•

en:giant granules in muscle cells

•

en:no staining for oxidative enzymes

•

en:myositis (in some patients)

•

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

•

en:distal limb muscular weakness due to peripheral neuropathy

•

en:swelling of the hands and feet, episodic

•

en:small, angulated muscle fibers seen on muscle biopsy

•

en:shoulder girdle weakness

•

en:positive staining for complement c5b-9 membrane attack complex proteins within vacuoles, but not on muscle fiber membrane

•

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

•

en:muscle biopsy shows fibrosis and increased connective tissue

•

en:marked muscular hypertrophy

•

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

•

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

•

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

•

en:difficulty walking up stairs

•

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

•

en:acetazolamide may worsen symptoms

•

en:relative sparing of the tibialis anterior

•

en:muscle hypertrophy of the lower extremities

•

en:intrasarcoplasmic dense granulofilamentous aggregates that are immunoreactive with desmin

•

en:decreased caveolin-3 expression seen on muscle biopsy

•

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

•

en:weakness of all intrinsic hand muscles (later)

•

en:variation of myofiber diameter

•

en:vacuolar myopathy

•

en:upper limb muscle hypoplasia

•

en:unable to walk

•

en:type 2 muscle fiber predominance

•

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

•

en:tubular aggregates seen on biopsy

•

en:trunk muscle atrophy

•

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

•

en:toe and foot dorsiflexor weakness

•

en:swelling of the affected areas

•

en:small and incompletely fused muscle fibers seen on biopsy

•

en:secondary myopathic features

•

en:sarcoplasmic accumulation of electron-dense granulofilamentous material

•

en:rimmed vacuoles with basophilic granular material

•

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

•

en:respiratory distress (congenital form)

•

en:ragged-red muscle fibers

•

en:prominent musculature

•

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

•

en:poor sarcomeric structure (in some patients)

•

en:poor head control

•

en:paracrystalline inclusions

•

en:painful swelling in aponeuroses

•

en:normal sensation

•

en:normal or increased facial adipose tissue

•

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

•

en:muscle weakness, proximal greater than distal

•

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

•

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

•

en:muscle weakness, lower limbs, during exercise

•

en:muscle weakness, distal, particularly affecting the hands

•

en:muscle strength and bulk is preserved

•

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

•

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

•

en:muscle biopsy shows nonspecific myopathic changes without dystrophic or inflammatory changes

•

en:muscle biopsy shows lipid deposition

•

en:muscle biopsy shows fiber type disproportion

•

en:muscle biopsy shows cytochrome c oxidase-negative fibers

•

•

en:mri shows fatty replacement

•

en:mild weakness of the small hand muscles

•

en:mild variability in muscle fiber size

•

en:mild atrophy of the proximal lower limbs

•

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

•

en:merosin-positive biopsy

•

en:lipohypoplasia, regional

•

en:limb muscle weakness, proximal, upper and lower

•

en:limb-girdle myopathy

•

en:increased variability of fiber size seen on muscle biopsy

•

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

•

en:increased staining for myotilin, dystrophin, desmin

•

en:increased muscle tone in the lower limbs

•

en:increased muscle tone (early in life)

•

en:increased fatigue

•

en:hypotrophy of type 1 fibers

•

en:hypotonia (cvs+)

•

en:hypotonia, severe, neonatal

•

en:hyaline plaques with absent oxidative activity

•

en:humeroperoneal weakness and atrophy

•

en:hamstring muscle affected

•

en:grip strength decreased

•

en:generalized muscle weakness, proximal and distal

•

en:gait unsteady

•

en:forearm muscle weakness

•

en:facial muscle weakness

•

en:exercise-induced muscle fatigue

•

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

•

en:enlarged terminal cisternae of the sarcoplasmic reticulum

•

en:emg shows myopathic features

•

en:emg - repetitive muscle discharges

•

en:dystrophic changes occur later

•

en:distal muscle atrophy due to neuropathy

•

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

•

en:disruption in the basal lamina seen on skeletal muscle biopsy

•

en:degenerate mitochondrial on em

•

en:decremental response to repetitive stimulation at neuromuscular junction

•

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

•

en:decreased shoulder muscle mass

•

en:decreased muscle mass

•

en:decreased mtdna

•

en:decreased coenzyme q10 levels in muscle

•

en:decreased activity of complexes ii+iii

•

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

•

en:biopsy shows myopathic and dystrophic changes

•

en:attacks last 4 to 24 hours

•

en:atrophic muscle fiber on biopsy

•

en:atrophic fibers

•

en:amyotrophy, neurogenic

•

en:adhalin deficiency seen on muscle biopsy

•

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

•

en:absence of necrosis

•

en:abnormal mitochondria in skeletal muscle biopsy

•

en:abdominal muscle hypoplasia

•

en:muscle soft, tissue

•

en:variable deficiencies of mitochondrial respiratory chain enzymes

•

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

•

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

•

en:thenar muscle atrophy

•

en:subsarcolemmal mitochondrial aggregates

•

en:subsarcolemmal lipofuscin-positive deposits

•

en:sparing of the anterior tibial compartment

•

en:skeletal muscle biopsy shows decreased cytochrome c oxidase activity

•

en:shoulder muscle hypoplasia

•

en:short and thickened z-discs

•

en:severely decreased or absent lamp2 protein

•

en:reduced muscle mass

•

en:rectus abdominis muscle separation

•

en:proximal muscle weakness (in some patients)

•

en:proximal and distal muscle atrophy

•

en:protein aggregates resembling myofibrillar myopathy may be present

•

en:primary myopathic changes seen on emg

•

en:phagocytic vacuoles with degraded membranous material

•

en:painful swelling in fasciae

•

en:no muscle weakness

•

en:normal muscle fiber (hcs)

•

en:normal lamp2 staining (309060)

•

en:nemaline rods (rare)

•

en:myotonia seen on emg

•

en:myotonia improves with continued activity ('warm-up phenomenon')

•

en:myofibromatosis

•

en:muscle weakness restricted to the upper limb

•

en:muscle weakness, proximal limb muscle, mild to moderate

•

en:muscle weakness, mainly proximal and axial

•

en:muscle wasting, progressive

•

en:muscle cramps affect the upper and lower limbs

•

en:muscle biopsy shows neurogenic atrophy affecting both fibers types

•

en:muscle biopsy shows dystrophic features

•

en:muscle biopsy shows centralized nuclei

•

en:muscle atrophy, limb-girdle and proximal

•

en:muscle atrophy

•

en:multiple mitochondrial respiratory enzymes deficiencies seen on biopsy

•

en:mri shows fatty infiltration of affected muscles

•

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

•

en:motor developmental delay

•

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

•

en:lymphedema, hands (rare)

•

•

en:lower and upper limbs affected

•

en:loss of subcutaneous and visceral adipose tissue, mild

•

en:loss of ambulation (in some patients)

•

en:increased endo- and perimysial connective tissue

•

en:immunoreactivity for z-disk proteins

•

en:hypotonia (untreated hypothyroidism)

•

en:histochemically normal type-ii muscle fibers

•

en:hand muscle atrophy

•

en:fibromyalgia

•

en:exertional leg pain

•

en:evidence of lymphatic rerouting

•

en:enlarged vesicles of sarcoplasmic reticulum origin

•

en:emg shows myopathy

•

en:emg shows increased insertion activity and fibrillation

•

en:electron microscopy showed z-disk streaming

•

en:electromyographic decrements in some muscles

•

en:distal muscle weakness due to neuropathy

•

en:distal atrophy of the legs

•

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

•

en:decreased muscle mass in the thighs

•

en:decreased muscle action potential after warming affected muscle

•

en:decreased mitochondrial complex iii activity seen on muscle biopsy

•

en:decreased caveolae in muscle tissue

•

en:decreased activity of multiple mitochondrial respiratory complex enzymes

•

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

•

en:cytoplasmic inclusion bodies (finding)

•

en:coenzyme q10 deficiency

•

en:centrally nucleated skeletal muscle fibers

•

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

•

en:atrophy of upper girdle muscles

•

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

•

en:anterior tibial muscles first involved

•

en:angulated fibers

•

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

•

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

•

en:abnormal axons with sprouting and swelling

•

en:z-disk degeneration

•

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

•

en:wasted lower leg muscles

•

en:variably decreased alpha-dystroglycan expression (dag, 128239)

•

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

•

en:vacuolar degeneration

•

en:ubiquinone decreased

•

en:type 2 fiber predominance

•

en:type 2 fiber atrophy see on biopsy

•

en:type 1 fiber atrophy

•

en:triceps aplasia

•

en:tenderness of lower extremities

•

en:soft tissue or tendinous calcinosis may occur

•

en:small or absent axon terminals

•

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

•

en:skeletal muscle biopsy shows dystrophic changes

•

en:scapuloperoneal amyotrophy

•

en:reduced muscle tone but normal power

•

en:ragged-red fibers on muscle biopsy

•

en:pyruvate oxidation defect

•

en:proximal muscle weakness, limb-girdle distribution

•

en:proximal limb muscle weakness initially

•

en:primarily affects lower limbs

•

en:preserved heel standing

•

en:poor muscle build

•

en:pectoralis major hypoplasia

•

en:patients achieve independent ambulation, but may lose it

•

en:painful adipose tissue

•

en:no staining for periodic acid schiff (pas)

•

en:normal or increased abdominal adipose tissue

•

en:normal dystrophin immunostaining

•

en:nonspecific muscle fiber atrophy

•

en:neuropathic or myopathic changes seen on emg

•

en:neurogenic changes seen on emg

•

en:myopathy in approximately 45% of patients

•

en:myopathic and neurogenic changes seen on emg

•

en:muscle weakness (cvs+)

•

en:muscle weakness, limb-girdle, mild

•

en:muscle stiffness (in older patients)

•

en:muscle pain after exercise

•

en:muscle mri shows fatty infiltration

•

en:muscle biopsy shows necrotic and regenerating fibers

•

en:muscle biopsy shows mitochondrial paracrystalline inclusions

•

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

•

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

•

en:muscle biopsy shows atrophy

•

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

•

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

•

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

•

en:mitochondrial dna depletion (20 to 35% of normal) seen on skeletal muscle biopsy

•

en:mild muscle weakness

•

en:lymphedema of lower extremity

•

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

•

en:loss of adipose tissue occurs around puberty

•

en:lipomas or lipomatous masses (most cases)

•

en:increased mitochondria with abnormal cristae

•

en:increased intraabdominal fat

•

en:increased connective tissue (in some patients)

•

en:increased central nucleation

•

en:inclusions are tdp43-immunoreactive

•

en:hypotonia (patient a)

•

•

en:hyporeflexia or areflexia

•

en:hypoplastic deltoids

•

en:hypoplasia of latissimus dorsi muscle

•

en:hip flexor weakness

•

en:flaccid weakness or paralysis, episodic attacks

•

en:fat pad between achilles tendon and medial malleolus

•

en:fat pads on the hands and feet

•

en:extensive fatty infiltration on biopsy

•

en:enteroviral dermatomyositis syndrome

•

en:emg shows polyphasic continuous motor unit discharges

•

en:emg in myotonia permanens shows continuous myotonic activity

•

en:electromyogram normal

•

en:edema (hands and feet)

•

en:edema, subcutaneous, generalized

•

•

en:distal muscular atrophy due to peripheral neuropathy

•

en:distal limb muscular atrophy due to peripheral neuropathy

•

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

•

en:difficulty walking, running

•

en:difficulty rising from a squatting position

•

en:difficulty in toe walking

•

en:degrading mitochondria

•

en:decreased density of calcium release units

•

en:decreased caveolin-3 expression on muscle biopsy

•

en:decreased activity of mitochondrial complex i

•

en:decreased activities of several mitochondrial respiratory enzymes

•

en:cytochemical and em muscle studies show large, bizarre mitochondria in striated muscle

•

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

•

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

•

en:congenital fiber-type disproportion

•

en:calf muscle discomfort

•

en:attacks usually decrease or disappear after age 40 years

•

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

•

en:adiposis on mri

•

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

•

en:'hanging' big toe

•

en:velopharyngeal muscle weakness

•

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

•

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

•

en:tortuous lymphatic tracts

•

en:thick palmar fascia

•

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

•

en:skeletal muscle shows dystrophic changes

•

en:skeletal muscle may show less severe mtdna deletion

•

en:shoulder girdle muscle weakness and atrophy, progressive

•

en:secondary decrease of calpain-3 (capn3, 114240) protein expression in muscle

•

en:rectus medial atrophy

•

en:proximal upper limb amyotrophy

•

en:proximal muscle weakness (120270.0002)

•

en:prominent muscular appearance

•

en:poor musculature

•

en:polyglucosan accumulation

•

en:partial lipodystrophy (abnormal distribution of adipose tissue)

•

en:paradoxical myotonia (myotonia increases with exercise)

•

en:painful muscle cramps

•

en:onset of lymphedema around puberty

•

en:no lipodystrophy in face and neck

•

en:nonspecific myopathic changes

•

en:nemaline bodies occur in type 1 fibers

•

en:nemaline bodies are rarely intranuclear

•

en:nearly complete absence of metabolically active adipose tissue (subcutaneous, intraabdominal, intrathoracic)

•

en:myofibrillar lesions

•

en:muscle weakness associated with fasting or infection

•

en:muscle weakness and atrophy, progressive

•

en:muscle weakness, severe, proximal and distal

•

en:muscle weakness, proximal and distal

•

en:muscle hematoma

•

en:muscle coenzyme q deficiency

•

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

•

en:muscle biopsy shows neurogenic angulated fibers

•

en:muscle biopsy shows dystrophic pattern

•

en:muscle biopsy shows abnormal fiber size and variation

•

en:mtdna deletions seen on muscle biopsy

•

en:mitochondrial dna deletions (in some patients)

•

en:mitochondrial complex iii deficiency (disorder)

•

en:minicore regions are poorly defined and do not extend through entire fiber length

•

en:mild weakness

•

en:loss of lower-limb tendon reflexes

•

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

•

en:increased mitochondria seen on muscle biopsy

•

en:increased intermyofibrillar and subsarcolemmal glycogen

•

en:hypoplasia of infraspinatus muscle

•

en:hyperactive deep tendon reflexes

•

en:hamstring and quadriceps muscles mildly affected

•

en:generalized muscle weakness (less common)

•

en:generalized limb muscle atrophy

•

•

en:focal loss of cross striations on muscle biopsy

•

en:firm muscles

•

en:filamentous inclusions in muscle fibers

•

en:fibrillation

•

en:facial muscle atrophy of involved side

•

en:exercise intolerance (less common)

•

en:eosinophilic inclusions

•

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

•

en:edema, generalized

•

en:easy fatigue

•

en:dystrophic changes on biopsy

•

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

•

en:distal myopathy (in 1 family)

•

en:distal muscle weakness and atrophy

•

en:distal muscle atrophy, predominantly affecting the lower limbs

•

en:distal limb muscle weakness due to peripheral neuropathy

•

en:distal amyotrophy

•

en:disorganized myofilaments seen on muscle biopsy

•

en:difficulty climbing stairs, jumping, running

•

en:decreased or absent ankle reflexes

•

en:decreased mitochondrial respiratory chain complex activity

•

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

•

en:decreased amplitude of miniature endplate potentials (mepp)

•

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

•

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

•

en:contractures of upper limbs (in some patients)

•

en:congenital absence of gluteal muscles

•

en:chronic denervation seen on emg

•

en:broad-based gait

•

en:biceps aplasia

•

en:axial muscle weakness

•

en:axial hypotonia (in some patients)

•

•

en:ankle edema (finding)

•

en:amorphous granulofilamentous material associated with z-discs

•

en:acquired partial lipodystrophy

•

en:abnormal distribution of subcutaneous fat

•

en:winged scapula

•

•

en:vacuolated muscle fibers show reduplication of the basement membrane

•

en:usually no myopathic changes on biopsy

•

en:upper limb weakness

•

en:tubulofilamentous inclusions

•

en:thigh hypertrophy

•

en:subsarcolemmal hyaline bodies in type 1 fibers only

•

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

•

en:structurally abnormal mitochondria

•

en:stiffness (uncommon)

•

en:skeletal muscle damage

•

en:severe muscular hypotonia

•

en:rhabdomyolysis with exercise (in older patients)

•

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

•

en:quadriceps muscle spared

•

en:pseudoathletic appearance with prominent muscles before disease onset

•

en:proximal muscle weakness

•

en:proximal and distal muscle atrophy in lower limbs

•

en:progressive proximal muscle involvement

•

en:no muscle fiber necrosis

•

en:no facial muscle involvement

•

en:normal mitochondrial morphology (1 patient)

•

en:non-pitting edema

•

en:necrosis and degeneration seen on muscle biopsy

•

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

•

en:myopathic findings on biopsy have been occasionally reported

•

en:myopathic changes seen on emg and muscle biopsy

•

en:muscular appearance

•

en:muscle weakness lower limb

•

en:muscle weakness, severe

•

en:muscle weakness, proximal, limb-girdle

•

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

•

en:muscle mitochondria normal by histochemical analysis

•

en:muscle biopsy shows ragged red fibers

•

en:muscle biopsy shows preserved junctional folds

•

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

•

en:muscle biopsy shows chronic and active denervation

•

en:muscle atrophy affecting the upper back and neck muscles

•

en:muscle atrophy, especially quadriceps and forearm muscles

•

en:mri may show cervical spinal cord atrophy

•

en:mitochondrial vacuolization seen on muscle biopsy

•

en:mitochondrial dna deletion (1 patient)

•

en:minicores (in some)

•

en:mild distal muscle atrophy

•

en:lymphedema of the extremities

•

en:low muscle mass

•

en:loss of independent ambulation around age 12 years

•

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

•

en:imaging shows progressive fatty infiltration of muscle

•

en:hematomas, recurrent large subcutaneous

•

en:gluteal hypoplasia

•

en:generalized amyoplasia

•

en:fibrous dysplasia (rare)

•

en:fiber necrosis

•

en:fasciculations (less common)

•

en:exercise capacity decreased

•

en:enlarged mitochondria

•

•

en:distal muscle wasting, mild

•

en:distal lower limb muscle weakness

•

en:difficulty running or inability to run

•

en:delayed motor development (cvs+)

•

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

•

en:defective mitochondrial oxidative phosphorylation of multiple enzymes

•

en:decreased muscle bulk

•

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

•

en:decreased endplate potential and amplitudes

•

en:decreased coenzyme q10

•

en:decreased ant1 protein (103220) in muscle tissue

•

en:combined oxidative phosphorylation deficiency, complexes i and iv

•

en:central cores seen on muscle biopsy

•

en:cardiomyopathy is not a feature

•

en:bilateral foot drop

•

en:attacks precipitated by hypokalemia, administration of glucose or insulin, heavy carbohydrate consumption, stress, fatigue, rest after exercise

•

en:atrophy of type 1 and type 2 fibers

•

en:apoptotic nuclei

•

en:ankle reflex absent

•

en:amyloid deposition in muscle fibers occurs rarely

•

en:accumulated lipid droplets seen on muscle biopsy

•

en:absence of laminin alpha-2 chain in muscle

•

en:abnormal aggregation of mitochondria

•

en:wide variation in fiber size

•

en:waddling gait

•

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

•

en:small rounded fibers

•

en:slow motor responses to sudden events (i.e., falling)

•

en:scapuloperoneal muscular atrophy due to denervation

•

en:retroperitoneal fibrosis (rare)

•

en:replacement of myofibers with connective tissue

•

en:reduced lower limb subcutaneous fat

•

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

•

en:proximal muscle weakness, mild, of shoulder and hip girdle muscles (in some patients)

•

en:poor exercise tolerance

•

en:neurogenic atrophy seen on muscle biopsy

•

en:necrotic process

•

•

en:myalgia (in some patients)

•

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 pain and cramping on exertion

•

en:muscle cramps during exercise

•

en:muscle biopsy shows rimmed vacuoles

•

en:muscle atrophy later in the disease

•

en:muscle atrophy appears later in disease course

•

en:muscle aches, cramps

•

en:muscles become hard and tender during exercise

•

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

•

en:multi-core congenital myopathy

•

en:minicores extend full fiber diameter

•

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

•

en:loss of subcutaneous adipose tissue in limbs

•

en:loss of subcutaneous adipose tissue from gluteal region

•

en:localized cellulitis

•

en:limb-girdle muscular dystrophy

•

en:lack of integrin alpha-7 staining

•

en:infantile muscular hypotonia

•

en:increased muscle tone at birth

•

en:increased lipid droplets and abnormal mitochondria

•

en:increased intramuscular fat

•

en:increased internal nuclei in skeletal muscle fibers

•

en:increased glycogen

•

en:increased endomysial fibrosis

•

en:increased adipose fibrosis

•

en:inclusions stain positively with nitroblue tetrazolium (nbt)

•

en:hypotonia, neonatal and later

•

en:hypotonia, axial, severe

•

en:hypothenar muscle atrophy

•

en:hypoplasia of supraspinatus muscle

•

en:frequent falls

•

en:fiber type grouping

•

en:fiber size variation

•

en:fatty replacement

•

en:facial muscle weakness and atrophy, progressive

•

en:facial diplegia

•

en:emg shows fibrillation potentials

•

en:edema at birth

•

en:easy fatigability

•

en:distal muscle weakness occurs later

•

en:distal limb muscle weakness occurs later

•

en:distal limb muscle weakness (less common)

•

en:difficulty walking, running, climbing stairs

•

en:denervation of skeletal muscles

•

en:decremental response on 3-hz repetitive nerve stimulation

•

en:decreased postsynaptic folding at the neuromuscular junction

•

en:decreased muscle mass, especially distally

•

en:decreased distal reflexes

•

en:cranial muscles spared

•

en:cox-negative fibers

•

en:calf muscle weakness

•

en:calf muscle hypoplasia

•

en:attacks precipitated by potassium

•

en:atrophy of the thenar and hypothenar muscles

•

•

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

•

en:amyotrophy affects c5 to t1 myotomes

•

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

•

en:absence of merosin in muscle

•

en:tibialis anterior muscle affected

•

en:thickened subcutaneous tissue

•

en:subsarcolemmal accumulations of abnormally shaped mitochondria seen with electronmicroscopy

•

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

•

en:sparing of small hand and finger muscles

•

en:some subcutaneous adipose tissue may remain on upper arms

•

en:some patients become wheelchair-dependent

•

en:skeletal muscle biopsy shows impaired respiratory oxidation

•

en:rupture of muscle

•

en:reduced muscle bulk

•

en:red-ragged fibers (2p21del)

•

en:rectus fascia separation

•

en:proximal muscle weakness (85% of patients)

•

en:proximal muscle atrophy (in some patients)

•

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

•

en:no myofibrillar abnormalities or protein aggregation

•

en:neurogenic abnormalities seen on emg

•

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

•

en:necrotic fibers

•

en:necrotic and regenerating muscle fibers

•

en:neck muscle hypoplasia

•

en:myopathy, mild to severe

•

en:myofibrillar disorganization

•

en:myalgia with febrile episodes (rare)

•

en:muscle weakness (in some patients)

•

en:muscle weakness, mild, proximal and distal

•

en:muscle weakness

•

en:muscle cramps (also seen in some heterozygotes)

•

en:muscle biopsy shows sarcoplasmic rods in myofibers

•

en:muscle biopsy shows loss of myofibrillar organization

•

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

•

en:muscle biopsy shows decreased secondary clefts

•

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

•

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

•

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

•

en:loss of subcutaneous fat

•

en:limb weakness and atrophy

•

en:leg cramps may occur with exercise

•

en:knee and hip flexor weakness due to peripheral neuropathy

•

en:interosseus muscles involved

•

en:interfibrillar and subsarcolemmal vacuoles

•

en:increased fiber size variability

•

en:increased fatty infiltration

•

en:impaired toe-walking

•

en:hypotonia, fixed

•

en:hypoplasia of serratus anterior muscle

•

•

en:greater sartorius involvement than gracilis involvement seen on mri

•

en:generalized neonatal hypotonia

•

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

•

en:fasciculation

•

•

en:emg shows neurogenic changes

•

en:emg shows myopathic pattern

•

en:emg shows fibrillations

•

en:emg may show myopathic features

•

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

•

en:distal muscles may be affected

•

en:distal limb muscle atrophy, lower more than upper

•

en:contractures of distal lower limbs

•

en:cold sensitivity has been reported

•

en:centralized nuclei, rare

•

en:calf hypertrophy (in some patients)

•

en:bulbar weakness

•

en:buffalo hump

•

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

•

en:biopsy shows degenerative changes consistent with myopathy

•

en:biopsy of adipose tissue shows reduced adipocyte size

•

en:berardinelli-seip congenital lipodystrophy

•

en:attacks precipitated by rest after exercise

•

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

•

•

en:ambulation difficulty

•

en:abnormal fat accumulation below the triceps (in some patients)

•

en:abnormalities in myofibril organization

•

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

•

en:type ii fiber atrophy seen on muscle biopsy

•

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

•

en:subcutaneous edema

•

en:some patients never achieve ambulation

•

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

•

en:rigidity (uncommon)

•

en:redundancy of basal lamina with accumulated debris

•

en:ragged-red fibers seen on muscle biopsy

•

en:proximal weakness of the lower limbs with longer disease duration

•

en:proximal muscle weakness in upper limbs

•

en:progression to wheelchair in fourth decade

•

en:predominantly lower limb lymphedema

•

en:neurogenic changes seen on emg and biopsy

•

en:neck muscle weakness

•

en:myotonia (delayed muscle relaxation after contraction)

•

en:myopathic changes early in disease seen on emg

•

en:myogenic changes seen on emg

•

en:muscular rigidity

•

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

•

en:muscle weakness and atrophy, upper and lower limbs

•

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

•

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

•

en:muscle wasting in lower limbs

•

en:muscle stiffness or aching

•

en:muscle pain with exercise (in older patients)

•

en:muscle hypertrophy

•

en:muscle fibers contain internal nuclei

•

en:muscle biopsy shows type 2 fiber atrophy (see details under neurologic heading)

•

en:muscle biopsy shows intranuclear tubulofilamentous inclusions

•

en:muscle biopsy shows degenerating endplates and junctional folds

•

en:muscle biopsy is immunopositive for merosin (156225)

•

en:mri shows increased connective tissue and fat

•

en:mitochondria show paracrystalline inclusions

•

en:lower limb muscle hypotrophy

•

en:lipoatrophic appearance

•

en:lipid accumulation in muscle tissue

•

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

•

en:limb-girdle muscle atrophy

•

•

en:increased subcutaneous truncal adipose tissue

•

en:increased perisarcolemmal calcium deposition

•

en:increased fatty and connective tissue in skeletal muscle

•

en:hypotonia, generalized (in some patients)

•

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

•

en:generalized muscle weakness

•

en:generalized amyotrophy

•

en:floppy infant

•

en:fiber-type variability

•

en:fetal akinesia deformation sequence

•

en:fatty deposition

•

•

en:exercise intolerance (also seen in some heterozygotes)

•

en:exercise-induced muscle stiffness

•

en:endomysial fibrosis

•

en:emg may show neurogenic changes

•

en:emg may showed myotonic discharges

•

en:electromyogram abnormal

•

en:easily fatigued (finding)

•

en:distal muscle weakness, affecting the lower limbs

•

en:distal muscle atrophy, affecting the lower limbs

•

en:depletion of mitochondrial dna

•

en:decreased shank muscle mass

•

en:decreased muscle density on imaging

•

en:decreased activity of respiratory complex ii+iii

•

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

•

en:congophilic staining

•

en:congophilic amyloid material

•

en:centralized nuclei may be seen

•

en:calf hypertrophy (less common)

•

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

•

en:attacks precipitated by cold temperature

•

en:absence of myotonia in infancy (congenital form)

•

en:absence of caveolin-3 staining

•

en:abnormal fat distribution

•

fatigue musculaire

•

•

•

•

•

déficit en cytochrome-c oxydase

•

en:degeneration of junctional folds

•

en:shortened open channel duration

•

en:prolonged endplate potentials

•

en:preserved junctional folds

•

en:superficial rerouting of lymph through the skin

•

en:decreased atp production

•

en:chronic neurogenic changes seen on emg

•

en:muscle atrophy, upper and lower limbs

•

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

•

faiblesse musculaire

•

oedème du visage

•

faiblesse de muscle

•

en:z-band streaming

•

en:virtually no active movement at birth (wws)

•

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

•

en:subsarcolemmal mitochondrial accumulation

•

en:subcutaneous fat markedly reduced

•

en:shoulder girdle muscle atrophy

•

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

•

en:reduced subcutaneous adipose tissue

•

en:reduced ankle dorsiflexion

•

en:proximal muscle weakness (occasional)

•

en:proximal muscle weakness, mild

•

en:myogenic profile on electromyography

•

en:myalgia, episodic

•

en:muscle wasting, severe, primarily in the legs

•

en:muscle fiber splitting

•

en:muscle cramps may affect jaw muscles

•

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

•

en:muscle biopsy shows mild dystrophic changes

•

en:muscle biopsy shows increased subsarcolemmal vacuolar glycogen accumulation

•

en:muscle biopsy shows abnormal mitochondria

•

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

•

en:muscle atrophy (type i)

•

en:multiple mitochondrial dna deletions

•

en:mallory-like bodies

•

en:lymphedema, dorsa of feet

•

en:infantile axial hypotonia

•

en:increased muscle glycogen content

•

en:hypoplasia of the hand muscles (29%)

•

en:heterotopic bone formation in subcutaneous fat

•

en:head drop due to neck muscle weakness

•

en:gait abnormalities (occurs later)

•

en:fiber type variation seen on biopsy

•

en:fatty degeneration of muscle seen on mri

•

en:facial muscle atrophy

•

en:dystrophic features seen on muscle biopsy

•

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

•

en:distal muscle weakness, occurs initially

•

en:distal limb muscle weakness and atrophy

•

en:disruption of the m-line

•

en:disorganization of the neuromuscular junction

•

en:difficulty running

•

en:dense membranous structure surrounding nuclei on electron microscopy

•

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

•

en:decreased numbers of type 2b fibers

•

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

•

en:decreased mitochondria

•

en:decreased immunostaining for alpha-sarcoglycan

•

en:decreased glycosylation of alpha-dystroglycan

•

en:decreased adipose tissue around neck

•

en:congophilic inclusions

•

en:centrally located nuclei seen on muscle biopsy

•

en:calf hypertrophy (reported in 1 family)

•

en:atrophy of the intrinsic foot and hand muscles

•

en:areflexia of lower limbs

•

en:angulated atrophic muscle fibers

•

en:absence of some scapular muscles (less common)

•

en:abnormal sarcoplasmic reticulum elements

•

en:weakness of neck extensors (rare)

•

en:vacuolar myopathy may occur

•

en:upper limb involvement occurs later or not at all

•

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

•

en:tendinous and tuberous xanthoma

•

en:symmetrical muscle wasting

•

en:swelling of the extremities, episodic

•

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

•

•

en:small endplate

•

en:small, firm, rubbery, flesh-colored nodules most commonly found on the head, neck, and trunk

•

en:severe form shows absence of spontaneous activity at birth

•

en:secondary myopathic changes

•

en:rhabdomyolysis (in some patients)

•

en:proximal muscle weakness occurs later

•

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

•

en:progressive distal muscle weakness

•

en:presynaptic defect at the neuromuscular junction

•

en:poor muscle bulk

•

en:patchy muscle fiber degeneration

•

en:normal or increased adipose tissue around the neck

•

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

•

en:neurogenic changes later in disease seen on emg

•

en:neonatal hypotonia

•

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

•

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

•

en:muscle weakness, primarily proximal

•

en:muscle stiffness

•

en:muscle fiber splitting (in some patients)

•

en:muscle fiber regeneration

•

en:muscle fibers appear as fetal myotubules

•

en:muscle biopsy shows variation in fiber size

•

en:muscle biopsy shows poor development of the postsynaptic membrane

•

en:muscle biopsy shows myofiber degeneration

•

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

•

en:muscle biopsy shows grouped atrophy

•

en:muscle biopsy shows core-like regions devoid of oxidative activity

•

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

•

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:minipolymyoclonus

•

en:macroglossia

•

en:lymphedema of the hands (in some patients)

•

en:lymphedema of lower limbs (in some patients)

•

•

•

en:large lipid droplets

•

en:increased variation in fiber size seen on muscle biopsy

•

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

•

en:increased muscle lipid content

•

en:increased connective tissue

•

en:hypotonia (in some patients)

•

en:hypotonia (45%)

•

en:hypotonia, truncal and appendicular

•

en:hypotonia, mild

•

en:glycogen accumulation seen on biopsy

•

en:gastrocnemius and soleus muscles most affected

•

en:gait, drop foot

•

en:fragmentation of the neuromuscular junction with pre- and postsynaptic defects

•

en:foot extensor muscle weakness (later onset)

•

en:exercise-induced weakness

•

en:exercise-induced muscle cramps

•

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

•

en:emg shows neurogenic changes consistent with denervation

•

en:distal lower limb anterior compartment weakness

•

en:distal limb muscle atrophy (less common)

•

en:difficulty standing

•

en:difficulty rising from chair

•

en:delayed ambulation

•

en:degenerative changes with increased connective tissue

•

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

•

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

•

en:decreased collagen vi

•

en:decreased activity of complex i and complex iv

•

en:cores or minicores

•

en:congophilic eosinophilic inclusions

•

en:calf hypertrophy (uncommon)

•

en:biopsy shows dystrophic changes

•

en:biopsy shows defects in pyruvate oxidation

•

en:a subset of patients develop bilateral weakness

•

en:attacks relieved by potassium administration

•

en:attacks may present during or after sleep

•

en:atrophic muscle fibers

•

en:absence of telethonin protein

•

en:'sloping' shoulders due to muscle atrophy

•

•

en:paralytic dementia

•

en:wide-based gait

•

•

élargissement du polygone de sustentation

•

spasme carpopédal

•

•

en:weakness worsened by activity

•

en:hypotonia (families a and b)

•

en:hypotonia, generalized, severe

•

en:decremental cmap response to repetitive nerve stimulation seen on emg

•

en:preserved junctional structure seen on muscle biopsy

•

en:muscle weakness, particularly of the lower limbs

•

en:secondarily decreased activities of mitochondrial respiratory enzymes (in some patients)

•

en:myopathic features seen on emg

•

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

•

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

•

en:upper arm and pelvic muscle weakness and atrophy (later onset)

•

en:umbilical depression

•

en:type 1 muscle fibers with clearly demarcated central 'core' regions of sarcomeric disorganization, lack of oxidative activity, and absent mitochondria

•

en:tubular aggregates in muscle fibers may occur

•

en:thenar eminence hypoplasia

•

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

•

en:subsarcolemmal accumulations of abnormally shaped mitochondria (on electron microscopy)

•

en:slim, muscular build (in some patients)

•

en:skeletal muscle weakness

•

en:shoulder weakness and atrophy

•

en:scapuloperoneal weakness

•

en:rhabdomyolysis, episodic and recurrent

•

en:proximal muscle weakness in lower limbs

•

en:polymyositis

•

en:peroneal muscle atrophy

•

en:pelvic muscle involvement occurs later

•

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:pain or cramping during sustained manual activity

•

en:normal or increased truncal adipose tissue

•

en:neurogenic changes

•

en:nemaline myopathy (in 1 reported male)

•

en:neck and proximal limb muscle myopathy

•

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

•

•

en:myopathic changes on pathology

•

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

•

en:muscular dystrophy (in some patients)

◀

en:distal muscle

•

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

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=7119570 • caches: c1=8 c2=1004 c3=1

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