Diko : en:muscle biopsy shows abnormal fiber size and variation

en:muscle biopsy shows abnormal fiber size and variation

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Langue:anglais

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umls:C3278933

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1000

en:vacuoles predominantly in type 2 fibers seen on muscle biopsy

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en:muscle weakness and atrophy

•

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

•

en:abnormal sarcoplasmic reticulum elements

•

en:calcific tendinitis

•

en:difficulty standing

•

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

•

en:muscle stiffness (in older patients)

•

en:muscle biopsy shows type i fiber predominance

•

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

•

en:skeletal myopathy

•

en:winged scapula

•

en:decreased activity of mitochondrial complex iii

•

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

•

en:hypoplasia of infraspinatus muscle

•

en:preserved junctional folds

•

en:scapular muscle weakness

•

en:deep finger muscle weakness

•

en:extensor finger muscle weakness

•

en:fasciculations (less common)

•

en:mitochondrial dna depletion, severe

•

en:muscle paralysis, episodic

•

en:percussion-induced muscle mounding (muscle rippling)

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

•

en:swelling of the extremities, episodic

•

en:distal lower limb muscle weakness due to peripheral neuropathy

•

en:edema

•

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

•

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

•

en:relative sparing of the rectus femoris

•

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

•

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

•

en:muscle mri shows fatty infiltration

•

en:normal or increased adipose tissue around the neck

•

en:poor head control in infancy

•

en:proximal muscle weakness, mild

•

en:shoulder weakness and atrophy

•

en:thigh hypertrophy

•

en:central nuclei

•

en:decreased activity of respiratory complex ii+iii

•

en:distal lower limb amyotrophy

•

en:muscle weakness, mainly proximal

•

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

•

en:protein aggregates immunopositive for actin and desmin

•

en:increased muscle tone at birth

•

en:atrophic muscle fibers

•

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

•

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

•

en:exertional leg pain

•

en:fatty degeneration of muscle seen on mri

•

en:hip flexor weakness

•

en:increased fat and fibrous tissue

•

en:increased lysosomal glycogen

•

en:muscle biopsy shows neurogenic atrophy affecting both fibers types

•

en:loss of ambulation between third and sixth decade

•

en:muscles have a woody consistency on palpation

•

en:muscle weakness, severe, axial and proximal predominance

•

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

•

en:decreased muscle mass

•

en:myopathy (in some patients)

•

en:neck flexor weakness

•

en:normal histopathology seen on muscle biopsy (in some patients)

•

en:swelling of the affected areas

•

en:thenar eminence hypoplasia

•

en:distal lower limb anterior compartment weakness

•

en:electromyogram abnormal

•

en:distal muscular atrophy due to peripheral neuropathy

•

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

•

en:decreased mitochondrial respiratory chain enzyme activity (patient b)

•

en:calf hypertrophy (reported in 1 family)

•

en:attacks of weakness

•

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

•

en:increased lipid

•

en:hypotonia, infantile, severe

•

en:muscle fatigability

•

en:atrophy of anterior compartment tibial muscles

•

en:muscle weakness, episodic

•

en:nemaline rods may be observed

•

en:muscle shows lipid accumulation

•

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

•

en:skeletal muscle biopsy shows reducing bodies

•

en:proximal upper limb amyotrophy

•

en:muscle weakness, severe, proximal and distal

•

en:type 1 muscle fiber predominance

•

en:calf pseudohypertrophy rare

•

en:degeneration of junctional folds

•

en:fiber size variation seen on biopsy (in some patients)

•

en:hypotonia, severe (patient b)

•

en:muscle biopsy shows hypotrophy of type 1 muscle fibers

•

en:myotonia seen on emg

•

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

•

en:pelvic girdle weakness and atrophy

•

en:upper limb involvement occurs later or not at all

•

en:decreased immunostaining for succinate dehydrogenase (mitochondrial complex ii)

•

en:enlarged nuclei with central pallor

•

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

•

en:muscle atrophy (1 patient)

•

en:myopathic pattern seen on emg

•

en:superficial rerouting of lymph through the skin

•

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

•

en:variation in fibrodiameter seen on muscle biopsy

•

en:umbilical cord bleeding

•

en:myalgia, episodic

•

en:lower limb muscle hypotrophy

•

en:muscle biopsy shows dystrophic changes

•

en:muscle atrophy, progressive

•

en:atrophy of neck muscles may occur later

•

en:loss of subcutaneous adipose tissue from upper limbs and trunk

•

en:generalized muscular appearance from birth

•

en:distal lower limb muscle weakness and atrophy

•

en:muscle biopsy shows type 1 fiber predominance and hypertrophy

•

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

•

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

•

en:tubular aggregates mainly in type 1 fibers

•

en:upper and/or lower limbs may be affected

•

en:'hanging' big toe

•

en:difficulty walking and climbing stairs (patient a)

•

en:distal muscle weakness, lower legs

•

en:lipodystrophy

•

en:loss of subcutaneous and visceral adipose tissue, mild

•

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

•

en:thickened subcutaneous tissue

•

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

•

en:muscle

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en:hand muscle atrophy

•

en:exercise capacity decreased

•

en:abnormal mitochondrial morphology

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en:dystrophic changes seen on muscle biopsy

•

en:dysphonia

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en:contractures of upper limbs (in some patients)

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en:apoptotic nuclei

•

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

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en:relative muscle weakness, especially in pelvic girdle

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en:broad-based gait

•

en:fiber-type predominance seen on muscle biopsy (in some patients)

•

en:lower limbs more affected than upper limbs

•

en:muscles do not contract upon electrical stimulation

•

en:muscle spasticity

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en:muscle weakness, variable

•

en:muscular hypotonia of the trunk

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en:necrotic and regenerating fibers

•

en:peroneal muscle weakness and atrophy due to peripheral neuropathy

•

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

•

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

•

en:muscular weakness, limb-girdle (patient a)

•

en:muscle weakness, lower limbs (patient a)

•

en:muscle weakness is not a feature

•

en:muscle weakness lower limb

•

en:myotonia is present in majority of cases

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en:myogenic changes seen on emg

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

•

en:myopathy, mild

•

en:muscle fibers contain internal nuclei

•

en:muscle weakness, distal, particularly affecting the hands

•

en:muscle biopsy shows loss of type 2a fibers

•

en:muscle coenzyme q deficiency

•

en:muscle biopsy shows variation in fiber size (family a)

•

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

•

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

•

en:muscle biopsy shows myopathic or dystrophic changes

•

en:neuropathic or myopathic changes seen on emg

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

•

en:muscle atrophy appears later in disease course

•

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

•

en:multi-core congenital myopathy

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en:mitochondria show paracrystalline inclusions

•

en:neck and proximal limb muscle myopathy

•

en:pectoralis muscles may be less involved, leading to inward shrugging posture

•

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

•

en:shortening of flexor profundus muscle-tendon unit

•

en:vacuoles in the myofiber cytoplasm

•

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

•

en:unable to walk

•

en:type 1 fiber predominance seen on muscle biopsy

•

en:triceps weakness

•

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

•

en:subsarcolemmal mitochondrial accumulation

•

en:subsarcolemmal aggregates of abnormal mitochondria with concentric lamellar membranes

•

en:small or absent axon terminals

•

en:shoulder muscle hypoplasia

•

en:sarcoplasmic accumulation of electron-dense granulofilamentous material

•

en:onset of weakness in hands and feet

•

en:rupture of tendon

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en:rounded, atrophic fibers (family a)

•

en:replacement of affected muscle tissue with fatty tissue

•

en:repetitive response to single nerve stimulation

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en:reduced muscle tone but normal power

•

en:preserved heel standing

•

en:predominance of oxidative fibers

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en:lower limbs more often affected

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en:pectoralis hypoplasia

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en:patchy muscle fiber degeneration

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en:painful adipose tissue

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en:low maximum workload on exercise testing

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en:increased muscle glycogen content

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en:loss of facial adipose tissue

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

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en:difficulty raising arms

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en:degenerating fibers

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

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en:decreased size of nerve terminals seen on muscle biopsy

•

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

•

en:decreased density of calcium release units

•

en:decreased caveolin-3 expression on muscle biopsy

•

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

•

en:decreased activities of complexes i and iv

•

en:decreased achilles reflex

•

en:centrally located nuclei seen on muscle biopsy

•

en:distal limb muscle weakness (less common)

•

en:calf atrophy (later onset)

•

en:calcium accumulation in junctional folds seen on muscle biopsy

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en:buffalo hump

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en:axial muscle hyperextension, episodic

•

en:ankle clonus

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en:amyotrophy affects c5 to t1 myotomes

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en:amyloid deposition in muscle fibers occurs rarely

•

en:absence of muscle pseudohypertrophy

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en:absence of laminin alpha-2 chain in muscle

•

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

•

en:distal leg muscle atrophy

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en:distal limb muscular weakness due to peripheral neuropathy

•

en:lipomas or lipomatous masses (most cases)

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en:generalized muscle weakness

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en:limb muscle weakness, proximal, upper and lower

•

en:increased variability in muscle fiber diameter

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en:increased perisarcolemmal calcium deposition

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en:increased fibrosis (in some patients)

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en:hypotrophy of type 1 fibers

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en:hypotrophic type 2 muscle fibers

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en:hypoplasia of serratus anterior muscle

•

en:hypoglycosylation of alpha-dystroglycan

•

en:hypertonia late

•

en:hyaline plaques with absent oxidative activity

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en:foot extensor muscle weakness (later onset)

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en:distal muscle atrophy due to neurologic disease

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

•

en:fatty infiltration seen on muscle biopsy

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en:facial muscle weakness and atrophy, progressive

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en:exercise intolerance (patient a)

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en:enteroviral dermatomyositis syndrome

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en:emg in myotonia permanens shows continuous myotonic activity

•

en:dystrophic features

•

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

•

en:distal muscle weakness, occurs initially

•

en:distal muscle weakness, affecting the lower limbs

•

en:distal muscle atrophy due to peripheral neuropathy

•

en:weakness of ankle plantar flexion

•

en:distal muscle weakness, mild

•

en:absence of pectoralis minor muscle

•

en:muscle biopsy shows sarcoplasmic pas-positive vacuoles

•

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

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en:myofibrillar myopathy

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en:myalgia (in some patients)

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en:myalgia

•

en:muscular dystrophy (in 1 of 3 patients)

•

en:muscle weakness following prolonged exercise

•

en:muscle weakness and atrophy, proximal

•

en:muscle weakness, lower limbs, during exercise

•

en:muscle hypotonia

•

en:muscle biopsy shows small rounded fibers

•

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

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en:patients achieve independent ambulation, but may lose it

•

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

•

en:muscle biopsy shows neurogenic angulated fibers

•

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

•

en:muscle biopsy shows hypoglycosylation of alpha-dystroglycan

•

en:muscle biopsy shows grouped atrophy

•

en:muscle biopsy is immunopositive for merosin (156225)

•

en:multiple rimmed vacuoles seen on biopsy (in some patients)

•

en:mtdna depletion seen on muscle biopsy

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en:mitochondrial dna deletion (1 patient)

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en:lymphedema of lower limbs (in some patients)

•

en:normal respiratory chain studies seen on muscle biopsy

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en:pelvic girdle muscle atrophy

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en:limb-girdle muscle weakness (2 families)

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en:subsarcolemmal lipofuscin-positive deposits

•

en:weakness

•

en:vacuoles containing neutral lipids seen on muscle biopsy

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en:upper limb weakness

•

en:upper limb involvement may occur later

•

en:type 2 muscle fiber atrophy

•

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

•

en:tubulofilamentous nuclear or cytoplasmic inclusions on biopsy

•

en:triceps aplasia

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

•

en:tenderness of lower extremities

•

en:small rounded fibers

•

en:postexercise cmap amplitude facilitation

•

en:skeletal muscle weakness

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en:shortened open channel duration

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en:sarcomere disappearance seen on muscle biopsy

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en:rhabdomyolysis, episodic

•

en:proximal muscle weakness more severe than distal muscle weakness

•

en:proximal muscles may be mildly affected

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en:proximal amyotrophy

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en:progressive widening of synaptic clefts that are filled with amorphous debris seen on muscle biopsy

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en:progressive distal and proximal symmetric limb weakness

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en:progression to proximal muscle weakness

•

en:primarily affects lower limbs

•

en:limb muscle weakness and atrophy, distal, neurogenic

•

en:type 1 fiber predominance

•

en:lack of integrin alpha-7 staining

•

en:decreased activities of mitochondrial-encoded respiratory chain complexes

•

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

•

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

•

en:disorganized myofilaments seen on muscle biopsy

•

en:disorganization of the myofibrillar pattern

•

en:difficulty running or inability to run

•

en:difficulty rising from a squatting position

•

en:diastasis recti

•

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

•

en:decreased sarcolemmal immunostaining for ptrf

•

en:decreased or absent ankle reflexes

•

en:cox-negative fibers

•

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

•

en:contractures of distal lower limbs

•

en:congenital myopathy (in one patient)

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

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en:centrally nucleated skeletal muscle fibers

•

en:bilateral foot drop

•

en:benign soft tissue developmental anomalies

•

en:atrophy of shins

•

en:atrophic muscle fiber on biopsy

•

en:knee and hip flexor weakness due to peripheral neuropathy

•

en:amyotrophy, distal, upper and lower limbs

•

en:distal muscle weakness

•

en:a subset of patients develop bilateral weakness

•

en:distal myopathy (in 1 family)

•

en:fragmented mitochondrial network

•

en:isolated necrotic fibers

•

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

•

en:interosseus muscles involved

•

en:inclusions are tdp43-immunoreactive

•

en:immunoreactivity for z-disk proteins

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en:hypotonic

•

en:hypoplasia of muscle

•

en:histochemically normal type-ii muscle fibers

•

en:gluteal hypoplasia

•

en:generalized muscle weakness also seen in symptomatic carrier females

•

en:increased fiber size variability

•

en:forearm muscle weakness

•

en:emg shows neurogenic changes consistent with denervation

•

en:fatty infiltration of affected muscles

•

en:edema, subcutaneous, generalized

•

en:emg shows myopathic pattern

•

en:electron microscopy shows subsarcolemmal accumulations of abnormally shaped mitochondria

•

en:emg shows reduction of voluntary recruitment

•

en:endomysial fibrosis

•

en:episodic, nonpruritic, nonurticarial, nonpitting edema

•

en:exercise intolerance (also seen in some heterozygotes)

•

en:extensor muscle weakness more severe than flexor muscle weakness

•

en:normal sensation

•

en:muscle weakness (type i)

•

en:nemaline rod formation

•

en:nemaline rods (rare)

•

en:necrotic and regenerating muscle fibers

•

en:myopathy (rare)

•

en:myopathy, nonprogressive

•

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

•

en:muscle weakness of limb

•

en:muscle atrophy (variable)

•

en:muscle weakness, proximal more than distal

•

en:muscle weakness, hypokalemia-related

•

en:muscle biopsy shows rimmed vacuoles

•

en:muscle biopsy shows atrophic fibers

•

en:muscle atrophy later in the disease

•

en:muscle atrophy, limb-girdle and proximal

•

en:muscles become hard and tender during exercise

•

en:motor delay

•

en:mitochondria are placed at the periphery of muscle fibers

•

en:mitochondrial myopathy, severe

•

en:no facial muscle involvement

•

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

•

en:no staining for periodic acid schiff (pas)

•

en:small atrophic fibers (in some patients)

•

en:mild kinetic abnormalities of the achr (in some patients)

•

en:thenar muscle atrophy

•

en:thenar amyotrophy (rare)

•

en:tetanus-like muscle contractions

•

en:symptoms may be induced by heat

•

en:stiffness (uncommon)

•

en:spontaneous muscle activity

•

en:some patients never achieve ambulation

•

en:some abnormal aggregation of mitochondria

•

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

•

en:plasma membrane discontinuities

•

en:tubular aggregates seen on biopsy

•

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

•

en:secondary loss of sarcolemmal caveolin-3

•

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

•

en:reduced postsynaptic cleft area

•

en:rare necrotic fibers

•

en:ragged red fibers seen on biopsy

•

en:presynaptic defect at the neuromuscular junction

•

en:poor muscle bulk

•

en:mitochondrial complex iii deficiency (disorder)

•

en:edema of dorsum of hands and feet

•

en:mildly increased mtdna

•

en:congophilic eosinophilic inclusions

•

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:decreased numbers of type 2b fibers

•

en:decreased muscle mass (predominantly in lower extremities)

•

en:decreased muscle mass, especially distally

•

en:decreased lactate clearance from muscle after exercise (reported in 1 patient)

•

en:decreased coenzyme q10 levels in muscle

•

en:decreased adipose tissue around neck

•

en:cox-depleted fibers

•

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

•

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

•

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

•

en:biopsy shows defects in pyruvate oxidation

•

en:angulated atrophic muscle fibers

•

en:affected muscles show atrophy

•

en:absence of some scapular muscles (less common)

•

en:abnormal fatigue

•

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

•

en:abnormally long mitochondria seen on muscle biopsy

•

en:type ii fiber predominance

•

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

•

en:exercise-induced muscle fatigue

•

en:marked variability of fiber size

•

en:hypotonia (1 patient)

•

en:marked muscular hypertrophy

•

en:lower and upper limbs affected

•

en:loss of truncal subcutaneous adipose tissue

•

en:lipohypoplasia, regional

•

en:lipid and glycogen accumulation

•

en:increased fatigability

•

en:increased central nucleation

•

en:inclusions stain positively with nitroblue tetrazolium (nbt)

•

en:inability to stand on tiptoes

•

en:hypotonia, mild

•

en:fat pad anterior to malleolus

•

en:hyporeflexia in affected muscles

•

en:hypoplasia of latissimus dorsi muscle

•

en:hematoma

•

en:group fiber atrophy (in some patients)

•

en:grip strength decreased

•

en:gowers sign present

•

en:flaccid neck

•

en:fibrous dysplasia (rare)

•

en:fibrillations in affected muscles

•

en:tubulofilamentous inclusions

•

en:increased glycogen

•

en:usually a unilateral disorder

•

en:muscle hypertrophy (meb)

•

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

•

en:neurogenic changes later in disease seen on emg

•

en:nemaline bodies (rods) on gomori trichrome staining

•

en:myopathy in approximately 45% of patients

•

en:myopathic features seen on biopsy

•

en:myopathic changes seen on emg

•

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

•

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

•

en:muscle pain with exercise (in older patients)

•

en:muscle cramps at rest

•

en:normal neonatal period may occur before weakness is apparent

•

en:muscle biopsy shows disruption of the sarcolemmal membrane

•

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

•

en:muscle biopsy shows chronic and active denervation

•

en:muscle biopsy shows atrophy

•

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

•

en:muscle atrophy in the limbs

•

en:multiple mitochondrial dna deletions

•

en:minimal muscle mass

•

en:mildly reduced respiratory enzyme activities except for complex ii

•

en:normal mitochondrial morphology (1 patient)

•

en:percussion myotonias

•

en:macroglossia

•

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

•

en:velopharyngeal muscle weakness

•

en:weakness of neck extensors (rare)

•

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

•

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

•

en:variable fiber size

•

en:upper limb muscle hypoplasia

•

en:tubular aggregates in type 2 skeletal muscle fibers

•

en:tubular aggregates (in some patients)

•

en:swelling of the hands and feet, episodic

•

en:small nerve terminals

•

en:polyglucosan accumulation

•

en:skeletal muscle shows decreased sarcoglycan proteins

•

en:skeletal muscle biopsy shows hypertrophy of type 1 and 2 muscle fibers

•

en:severely decreased or absent lamp2 protein

•

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

•

en:ragged red fibers (in some patients)

•

en:quadriceps atrophy

•

en:proximal limb muscle weakness initially

•

en:poor sarcomeric structure (in some patients)

•

en:poor development of the postsynaptic membrane

•

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

•

en:nonspecific myopathy

•

en:loss of subcutaneous adipose tissue from gluteal region

•

en:congophilic deposits

•

en:deep rerouting of lymph in lower limbs seen on lymphoscintigraphy

•

en:decreased shank muscle mass

•

en:decreased muscle bulk (in one patient)

•

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

•

en:decreased exercise tolerance

•

en:decreased cytochrome c oxidase staining

•

en:decreased caveolae in muscle tissue

•

en:decreased amplitude of miniature endplate potentials (mepp)

•

en:decreased activity of complexes ii+iii

•

en:coenzyme q10 deficiency

•

en:difficulty walking, running, climbing stairs

•

en:cellulitis in lower limbs, recurrent

•

en:calf muscle weakness

•

en:biopsy shows dystrophic changes

•

en:atrophy of the lower leg muscles

•

en:angulated fibers

•

en:accumulated lipid droplets seen on muscle biopsy

•

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

•

en:abnormal fat pad, buttocks and upper thighs (in some patients)

•

en:loss of ambulation (in some patients)

•

en:weakness of all intrinsic hand muscles (later)

•

en:difficulty walking

•

en:z-line streaming see on electron microscopy

•

en:disruption of sarcomeres with disorganization of the z band

•

en:hangrip myotonia

•

en:disruption of the sarcolemmal membrane seen on muscle biopsy

•

en:lipid accumulation in muscle tissue

•

en:increased mitochondria seen on muscle biopsy

•

en:increased intraabdominal fat

•

en:inability to stand or walk (in severe cases)

•

en:inability to jump or squat

•

en:hypotonia from birth to age 12

•

en:lipoatrophy

•

en:hip abductor weakness and atrophy

•

en:hypoplasia of supraspinatus muscle

•

en:granular deposits in the sarcomeres

•

en:evidence of lymphatic rerouting

•

en:generalized muscle weakness, particularly affecting the limbs

•

en:dorsal and flexor muscles of the forearm are involved

•

en:edema (hands and feet)

•

en:distal amyotrophy

•

en:fasciculations (in some patients)

•

en:fiber size variation (in some patients)

•

en:fiber size variation seen on muscle biopsy

•

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

•

en:muscle weakness trunk

•

en:muscle weakness (in 90% of patients)

•

en:muscle weakness, upper and lower limbs

•

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

•

en:muscle weakness, mainly proximal and axial

•

en:muscle weakness, distal more than proximal

•

en:muscle wasting due to chronic denervation

•

en:myalgia with febrile episodes (rare)

•

en:muscle pain following exercise (in some patients)

•

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

•

en:muscle fiber necrosis

•

en:muscle cramps, painful, recurrent

•

en:muscle biopsy shows peripheral accumulation of abnormal mitochondria

•

en:muscle biopsy shows necrotic and regenerating fibers

•

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

•

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

•

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

•

en:muscle atrophy, upper and lower limbs

•

en:muscle aches, intermittent

•

en:myofibrillar lesions

•

en:mild muscle weakness

•

en:myasthenic syndrome (hcs)

•

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

•

en:myopathy seen on emg

•

en:shoulder muscle weakness (in some patients)

•

en:loss of independent ambulation around age 12 years

•

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

•

en:wasting of calf muscles (rare)

•

en:walking may be limited

•

en:variation of fiber size and shape

•

en:vacuolar myopathy may occur

•

en:tubular aggregates in muscle fibers may occur

•

en:subsarcolemmal accumulation of mitochondria seen on skeletal muscle biopsy

•

en:subsarcolemmal accumulations of abnormally shaped mitochondria seen with electronmicroscopy

•

en:short and thickened z-discs

•

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

•

en:scapuloperoneal muscular atrophy due to denervation

•

en:reduced muscle bulk

•

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

•

en:prominent involvement of the biceps brachii muscles

•

en:poor musculature

•

en:peroneal muscle weakness

•

en:paralysis of the lower limbs (later)

•

en:no muscle fiber necrosis

•

en:nonspecific myopathy seen on biopsy

•

en:lymphography shows hypoplasia of lymphatic vessels

•

en:'sloping' shoulders due to muscle atrophy

•

en:lipoatrophy, generalized

•

en:decreased activity of complex i and complex iv

•

en:degenerative features seen on muscle biopsy

•

en:degenerating mitochondria

•

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

•

en:decreased muscle mitochondrial aconitase

•

en:decreased muscle bulk

•

en:decreased mtdna

•

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

•

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

•

en:decreased activity of mitochondrial complex i

•

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

•

en:disarray of mitochondrial cristae seen on muscle biopsy

•

en:cellulitis or infection may occur

•

en:carpopedal spasm

•

en:biopsy shows myopathic and dystrophic changes

•

en:autophagosome

•

en:atrophy of the thenar and hypothenar muscles

•

en:abnormal mitochondrial proliferation

•

en:abnormal mitochondria

•

en:abnormal iron deposition in mitochondria

•

en:absence of myotonia in infancy (congenital form)

•

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

•

en:easy fatigability

•

en:lipoatrophic appearance

•

en:global muscle weakness

•

en:limb weakness and atrophy

•

en:lack of facial subcutaneous fat

•

en:infantile axial hypotonia

•

en:increased internal nuclei (in some patients)

•

en:increased connective tissue and fat in muscles

•

en:inability to run

•

en:hypotonia (patient b)

•

en:hemihypertrophy of right arm and leg (rare)

•

en:gluteus maximus and thigh adductors most affected

•

en:generalized muscle weakness (less common)

•

en:easy fatigue

•

en:generalized muscle weakness, proximal and distal

•

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

•

en:foot-drop

•

en:finger and wrist extensor weakness

•

en:fiber type variation seen on biopsy

•

en:exercise intolerance (cvs+)

•

en:endplate abnormalities

•

en:emg shows neurogenic changes

•

en:emg shows myopathy

•

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

•

en:absence of merosin in muscle

•

en:chronic denervation seen on skeletal muscle biopsy

•

en:absence of telethonin protein

•

en:muscle biopsy shows type 1 fiber predominance

•

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

•

en:muscle weakness, primarily proximal

•

en:muscle weakness, predominantly proximal

•

en:muscle weakness, mild, proximal and distal

•

en:muscle mounding

•

en:muscle hypertrophy may occur

•

en:muscle hypertonia

•

en:muscle hematoma

•

en:muscle fiber regeneration

•

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

•

en:muscle weakness is predominantly of extremities and tongue

•

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

•

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

•

en:muscle biopsy shows dystrophic features

•

en:muscle biopsy shows decreased glycosylation of alpha-dystroglycan

•

en:muscle atrophy, mild

•

en:multiple mitochondrial dna (mtdna) deletions (in most cases)

•

en:mitochondrial complex i deficiency

•

en:minipolymyoclonus

•

en:many fibers with internal nuclei

•

en:muscle weakness after cooling or on warming affected muscle

•

en:myopathic changes seen on emg of affected muscle

•

en:loss of adipose tissue occurs around puberty

•

en:small and incompletely fused muscle fibers seen on biopsy

•

en:adhalin deficiency seen on muscle biopsy

•

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

•

en:weakness of the anterior tibial muscle and toe extensors

•

en:walking delay

•

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

•

en:variability in fiber size

•

en:vacuolar myopathy

•

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

•

en:some patients become wheelchair-dependent

•

en:shoulder muscle weakness

•

en:necrotic muscle fibers

•

en:secondary myopathic changes

•

en:recovery between attacks

•

en:proximal muscle weakness, lower limbs, slowly progressive (1 of 3 patients)

•

en:progressive proximal muscle involvement

•

en:poor muscle mass

•

en:onset of lymphedema around puberty

•

en:normal or increased facial adipose tissue

•

en:normal or increased abdominal adipose tissue

•

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

•

en:neurogenic atrophy seen on muscle biopsy

•

en:lymphedema, of upper and/or lower extremity (rare)

•

en:myogenic profile on electromyography

•

en:lipodystrophy (in some patients)

•

en:congenital absence of gluteal muscles

•

en:distal limb muscular atrophy due to peripheral neuropathy

•

en:distal limb muscle atrophy due to peripheral neuropathy

•

en:deposits immunoreactive to beta-amyloid protein

•

en:denervation

•

en:degenerating junctional folds

•

en:defective mitochondrial oxidative phosphorylation of multiple enzymes

•

en:decreased postsynaptic achr

•

en:decreased ant1 protein (103220) in muscle tissue

•

en:cytochrome-c oxidase deficiency

•

en:complex v deficiency

•

en:distal muscle weakness in lower limbs, severe

•

en:calf muscle hypoplasia

•

en:calf and thigh cramping muscle pains

•

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

•

en:buffalo hump (rare)

•

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:angular atrophic fibers

•

en:increased fatty infiltration

•

en:anasarca

•

en:distal muscle atrophy due to neuropathy

•

en:decreased activities of several mitochondrial respiratory enzymes

•

en:inclusions show positive immunostaining for sqstm1 and ubiquitin

•

en:focal lymphocytic and macrophage infiltrates on biopsy

•

en:inclusion bodies seen on biopsy (in some patients)

•

en:dysarthria

•

en:hypotonia (cvs+)

•

en:hypoglycosylation of alpha-dystroglycan seen on muscle biopsy

•

en:hypertonicity (uncommon)

•

en:hyaline inclusion

•

en:hernia

•

en:generalized muscle contractions, episodic

•

en:foot dorsiflexor weakness

•

en:hamstring muscle affected

•

en:facial muscle atrophy of involved side

•

en:exercise-induced muscle cramps

•

en:dystrophic changes

•

en:eosinophilic inclusions

•

en:emg may showed myotonic discharges

•

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

•

en:dystrophic skeletal muscle seen on biopsy

•

en:dystrophic features and atrophic fibers seen on muscle biopsy

•

en:extensive fatty infiltration on biopsy

•

en:dystrophic changes may be present

•

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

•

en:muscle biopsy shows increased variation in fiber size

•

en:muscle biopsy shows nonspecific myopathic changes

•

en:myopathic changes on pathology

•

en:muscle fiber atrophy, profound (rare)

•

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

•

en:muscle weakness (cvs+)

•

en:muscle biopsy shows decreased activity of cytochrome c oxidase

•

en:myopathic changes seen on emg and muscle biopsy

•

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

•

en:lack of adipose tissue on limbs and femorogluteal regions

•

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

•

en:muscle biopsy shows abnormal mitochondria

•

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

•

en:multiple mitochondrial respiratory enzymes deficiencies seen on biopsy

•

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

•

en:mitochondrial proliferation

•

en:minicores extend full fiber diameter

•

en:mild atrophy of the proximal lower limbs

•

en:mildly decreased cytochrome c oxidase activity

•

en:mallory-like bodies

•

en:lymphoscintigraphy shows impaired lymphatic uptake and drainage

•

en:neurogenic abnormalities seen on emg

•

en:myopathic features seen on emg

•

en:toe-walking gait

•

en:nonspecific myopathic changes seen on biopsy

•

en:relatively preserved limb strength

•

en:intermyofibrillar and subsarcolemmal granulofilamentous protein aggregates

•

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

•

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

•

en:secondary myopathic features

•

en:secondary loss of achr from junctional folds seen on muscle biopsy

•

en:rimmed vacuoles

•

en:rhabdomyolysis, episodic and recurrent

•

en:rhabdomyolysis

•

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

•

en:repetitive action potentials in response to single nerve stimulation

•

en:reduced subcutaneous fatty tissue

•

en:normal phosphorylase kinase activity in muscle

•

en:quadriceps weakness

•

en:proximal muscle weakness occurs later

•

en:proximal muscle weakness (120270.0002)

•

en:proximal muscle weakness, less severe

•

en:proximal muscle involvement may occur

•

en:proximal muscles more often affected

•

en:protein aggregates resembling myofibrillar myopathy may be present

•

en:prolonged endplate currents

•

en:pena-shokeir syndrome type i

•

en:pelvic girdle muscle weakness (occurs earlier)

•

en:internal nuclei seen on muscle biopsy

•

en:accelerated decay of the synaptic current

•

en:interfibrillar and subsarcolemmal vacuoles

•

en:biopsy shows nonspecific myopathy without rimmed vacuoles

•

en:decreased immunostaining for alpha-sarcoglycan

•

en:decreased atp production

•

en:decreased achr at the endplate

•

en:cox-negative fibers seen on muscle biopsy

•

en:cores extend along length of muscle fiber

•

en:congenital fiber type disproportion

•

en:congenital, nonprogressive myopathy

•

en:cold sensitivity has been reported

•

en:chronic neurogenic changes seen on emg

•

en:cervical muscle weakness

•

en:atrophic

•

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

•

en:ascites (in some patients)

•

en:areflexia of lower limbs

•

en:amyotrophy, neurogenic

•

en:alimentary edema

•

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

•

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

•

en:variable decreases in mitochondrial respiratory complex enzyme activities

•

en:absence of necrosis

•

en:abnormal mitochondria with loss of cristae

•

en:abnormal jitter

•

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

•

en:decreased secondary clefts

•

en:inflammatory cells absent

•

en:facial diplegia

•

en:increased endomysial fibrosis

•

en:hypotonia at birth

•

en:hyporeflexia or areflexia

•

en:hypertrophy of the extensor digitorum brevis muscles

•

en:heterotopic bone formation in subcutaneous fat

•

en:gowers sign (in some patients)

•

en:gait abnormality

•

en:gait, drop foot

•

en:fiber size variation

•

en:familial generalized lipodystrophy

•

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

•

en:defects in lipoate-containing mitochondrial enzyme complexes

•

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

•

en:enlarged mitochondria

•

en:emg shows increased insertion activity and fibrillation

•

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

•

en:edema at birth

•

en:edematous hands and feet (1 patient)

•

en:easily fatigued (finding)

•

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

•

en:distal muscle atrophy, lower legs

•

en:distal limb muscle atrophy (less common)

•

en:distal amyotrophy (hands and feet)

•

en:type 1 fibers with inclusions containing myh7 protein aggregates

•

en:decreased achr

•

en:weak extraocular muscles

•

en:muscle biopsy shows mitochondrial aggregates

•

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

•

en:muscle weakness in forearm muscles

•

en:muscle weakness begins proximally

•

en:muscle weakness (hcs)

•

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

•

en:muscle weakness, congenital

•

en:muscle wasting in lower limbs

•

en:muscle wasting (especially legs and arms)

•

en:muscle pain (in some patients)

•

en:muscle fiber immaturity

•

en:muscle biopsy shows increased subsarcolemmal vacuolar glycogen accumulation

•

en:myotonia

•

en:muscle biopsy shows glycogen accumulation in myofibrils and lysosomes

•

en:muscle biopsy shows degenerating endplates and junctional folds

•

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

•

en:muscle atrophy restricted to the upper limb

•

en:muscle atrophy, diffuse, severe

•

en:muscle activity is electrically silent on emg

•

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

•

en:mild muscular hypotonia

•

en:merosin-positive biopsy

•

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

•

en:muscle weakness usually does not occur

•

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

•

en:limb weakness, proximal followed by distal

•

en:ragged red fibers seen on skeletal muscle biopsy

•

en:z-disks with abnormal homogeneous material

•

en:variation of myofiber diameter

•

en:tubular aggregates seen on muscle biopsy

•

en:small type ii fibers

•

en:slim, muscular build (in some patients)

•

en:skeletal muscle biopsy shows dystrophic changes

•

en:secondary loss of merosin and desmin

•

en:rigidity (uncommon)

•

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

•

en:reduced o-mannosyl glycans on alpha-dystroglycan

•

en:pseudoathletic appearance with prominent muscles before disease onset

•

en:nemaline bodies occur in type 1 fibers

•

en:proximal muscle atrophy (in some patients)

•

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

•

en:prolonged endplate potentials

•

en:predominantly lower limb lymphedema

•

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

•

en:pelvic muscle involvement occurs later

•

en:partial lipodystrophy (abnormal distribution of adipose tissue)

•

en:panniculitis

•

en:abnormal axons with sprouting and swelling

•

en:neonatal hypotonia

•

en:lipoma

•

en:neuropathic process seen on muscle biopsy

•

en:limb-girdle muscle weakness

•

en:congenital muscular dystrophy (disorder)

•

en:decreased muscle mass in the thighs

•

en:decreased muscle action potential after warming affected muscle

•

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

•

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

•

en:decreased collagen vi

•

en:decreased coenzyme q10 content

•

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

•

en:cranial muscles spared

•

en:cores or minicores

•

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

•

en:centralized nuclei may be seen

•

en:decreased quantal release

•

en:biopsy of adipose tissue shows reduced adipocyte size

•

en:autophagic rimmed vacuoles

•

en:attacks relieved by potassium administration

•

en:atrophy of upper girdle muscles

•

en:angulated atrophic fibers

•

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

•

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

•

en:abnormal muscle tone

•

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

•

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

•

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

•

en:chronic weakness

•

en:decremental compound muscle action potential on repetitive stimulation

•

en:generalized muscle weakness, severe

•

en:increased variation in fiber size seen on muscle biopsy

•

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

•

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

•

en:increased mitochondria with rare paracrystalline inclusions

•

en:increased focal mitochondrial density

•

en:increased fibrosis (family a)

•

en:inability to sit or hold head up

•

en:hyporeflexia

•

en:hypoactive gag reflex

•

en:hyperactive deep tendon reflexes

•

en:hypotonia (2 patients)

•

en:generalized amyoplasia

•

en:degenerating nerve terminals

•

en:distal limb muscle atrophy, lower more than upper

•

en:distal lower limb muscle weakness

•

en:distal muscle atrophy, predominantly lower limbs

•

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

•

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

•

en:distal muscle weakness due to neuropathy

•

en:emg shows high-frequency spontaneous discharges

•

en:emg shows myopathic features

•

en:exercise-induced weakness

•

en:gait abnormalities (occurs later)

•

en:muscle fibers are immunoreactive for desmin and vimentin

•

en:muscle fiber splitting (in some patients)

•

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

•

en:muscle weakness, symmetric, proximal, lower limbs

•

en:muscle weakness and atrophy, distal

•

en:nemaline rods (in some patients)

•

en:myoclonic spasms

•

en:myofibrillar disorganization

•

en:myopathic and neurogenic changes seen on emg

•

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

•

en:neurogenic changes seen on emg and biopsy

•

en:muscle cramps (also seen in some heterozygotes)

•

en:muscle fatigue

•

en:mild weakness of the small hand muscles

•

en:muscle cramp

•

en:muscle biopsy shows neurogenic atrophy (1 patient)

•

en:muscle biopsy shows myopathic changes

•

en:muscle biopsy shows inflammation with t cells

•

en:muscle biopsy shows cytochrome c oxidase-negative fibers

•

en:muscle atrophy (type i)

•

en:muscle atrophy, severe

•

en:muscle atrophy, especially quadriceps and forearm muscles

•

en:motor clumsiness

•

en:mitochondrial vacuolization seen on muscle biopsy

•

en:mitochondrial myopathies

•

en:mild variability in muscle fiber size

•

en:mild decrease in mitochondrial respiratory chain activity

•

en:no lipodystrophy in face and neck

•

en:nonspecific myopathic changes

•

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

•

en:no ragged-red fibers

•

en:ring fibers

•

atrophie

•

en:weakness and wasting of the lower limbs

•

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

•

en:transient neonatal hypotonia (less common)

•

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

•

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

•

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

•

en:some subcutaneous adipose tissue may remain on upper arms

•

en:small atrophic muscle fibers

•

en:shoulder weakness

•

en:shoulder girdle weakness

•

en:shortening of various muscle-tendon groups in legs

•

en:severe form shows absence of spontaneous activity at birth

•

en:rhabdomyolysis may occur

•

en:nuclear clumps

•

en:retroperitoneal fibrosis (rare)

•

en:redundancy of basal lamina with accumulated debris

•

en:ragged-red fibers on muscle biopsy

•

en:quadriceps muscle spared

•

en:pyruvate oxidation defect

•

en:proximal muscle weakness (85% of patients)

•

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

•

en:proximal muscle weakness

•

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

•

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

•

en:poor muscle build

•

en:poor head control

•

en:paradoxical myotonia (myotonia increases with exercise)

•

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

◀

Génériques

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en:muscle

• Mathieu Lafourcade • LIRMM (données libres en Creative Commons) •

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=7118521 • caches: c1=10 c2=1004 c3=2

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