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

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

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le dictionnaire d'associations lexicales
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en:decremental cmap response to repetitive nerve stimulation seen on emg

Nom

Informations lexicales

Langue:anglais

Associations d'idées

1000

en:variable fiber size

•

en:distal lower limb muscle weakness and atrophy

•

en:vacuolated muscle fibers show reduplication of the basement membrane

•

en:attacks precipitated by rest after exercise

•

en:histochemically normal type-ii muscle fibers

•

en:inability to jump or squat

•

en:minimal muscle mass

•

en:myopathic changes seen on biopsy

•

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

•

en:anterior tibial muscles first involved

•

en:abnormal mitochondria with paracrystalline inclusions seen on muscle biopsy

•

en:dystrophic changes, mild, seen on muscle biopsy

•

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

•

en:subsarcolemmal lipofuscin-positive deposits

•

en:prolonged endplate potentials

•

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

•

en:myoclonic spasms

•

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

•

en:loss of truncal subcutaneous adipose tissue

•

en:increased numbers of type 1 fibers

•

en:hand muscle atrophy

•

en:absence of caveolin-3 staining

•

en:loss of subcutaneous fat, particularly affecting the limbs

•

en:muscle biopsy shows increased variation in fiber size

•

en:painful adipose tissue

•

en:pseudohypertrophy of muscle

•

en:reduced lower limb subcutaneous fat

•

en:weakness of ankle plantar flexion

•

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

•

en:congophilic inclusions

•

en:electromyogram abnormal

•

en:lower limb muscle hypotrophy

•

en:muscle fatigue

•

en:muscle pain and cramps following exercise

•

en:myofibrillar disorganization

•

en:myotonic discharges

•

en:proximal myopathy

•

en:hypotonia (families a and b)

•

en:decreased activities of mitochondrial respiratory complexes i and iii seen on skeletal muscle biopsy

•

en:numerous vacuole-like areas

•

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

•

en:triceps weakness

•

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

•

en:myopathy, mild to severe

•

en:lower limb muscle atrophy

•

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

•

en:neonatal hypotonia

•

en:patients achieve independent ambulation, but may lose it

•

en:soft tissue vascular malformations

•

en:thick palmar fascia

•

en:mild muscular hypotonia

•

en:myopathy (rare)

•

en:muscle cramps during exercise

•

en:decreased activity of mitochondrial complex iii

•

en:mild muscle atrophy in forearm muscles

•

en:limb-girdle myopathy

•

en:foot dorsiflexor weakness

•

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

•

en:poor muscle bulk

•

en:fatty degeneration of muscle seen on mri

•

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

•

en:degenerative features seen on muscle biopsy

•

en:exercise-induced muscle fatigue

•

en:pyruvate oxidation defect

•

en:greater sartorius involvement than gracilis involvement seen on mri

•

en:increased mitochondria with abnormal cristae

•

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

•

en:myopathic changes seen muscle biopsy

•

en:poor development of the postsynaptic membrane

•

en:decremental muscle response to repetitive nerve stimulation

•

en:amyotrophy, distal, upper and lower limbs

•

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

•

en:carpopedal spasm

•

en:increased adipose fibrosis

•

en:minicores or core-like regions may be present

•

en:muscle weakness (1 patient)

•

en:emg shows neurogenic changes

•

en:increased variation in muscle fiber diameter

•

en:muscle biopsy shows glycogen accumulation in myofibrils and lysosomes

•

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

•

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

•

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

•

en:painful muscle cramps

•

en:paracrystalline inclusions

•

en:decreased activity of mitochondrial complex i

•

en:firm muscles

•

en:hypotonia (in some patients)

•

en:increased lipid droplets and abnormal mitochondria

•

en:lack of integrin alpha-7 staining

•

en:muscle biopsy shows centralized nuclei

•

en:myofibril destruction (in some patients)

•

en:neurogenic atrophy of muscle fibers seen on biopsy (in some patients)

•

en:myopathic changes seen on emg

•

en:distal muscular atrophy due to peripheral neuropathy

•

en:increased number of small endplates

•

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

•

en:muscle biopsy shows myopathic changes

•

en:muscle fibers may contain abnormal polysaccharide

•

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

•

•

en:soft fleshy palms (50%)

•

en:thickened endplate basal lamina seen on muscle biopsy

•

en:increased fatigability

•

en:loss of ambulation (in some patients)

•

en:muscle mri shows fatty infiltration

•

en:muscle aches, cramps

•

en:lymphedema, dorsa of feet

•

en:shoulder girdle muscle weakness and atrophy, progressive

•

en:increased variability of fiber size seen on muscle biopsy

•

en:extensive fatty infiltration on biopsy

•

en:distal muscle weakness, upper and lower limbs

•

en:distal limb muscle weakness, lower more than upper

•

en:replacement of affected muscle tissue with fatty tissue

•

en:fat pads on the hands and feet

•

en:small or absent axon terminals

•

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

•

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

•

en:severely decreased or absent lamp2 protein

•

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

•

en:proximal and distal muscle atrophy in lower limbs

•

en:mri shows fatty infiltration of affected muscles

•

en:easily fatigued (finding)

•

en:decreased caveolin-3 expression seen on muscle biopsy

•

en:decreased activities of mitochondrial-encoded respiratory chain complexes

•

en:decreased achr

•

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

•

en:decreased muscle bulk

•

en:decreased muscle mass, especially distally

•

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

•

en:muscle biopsy shows dystrophic changes

•

en:muscle biopsy shows mild dystrophic changes

•

en:muscle biopsy shows rimmed vacuoles

•

en:thenar muscle atrophy

•

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

•

en:abnormal axons with sprouting and swelling

•

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

•

en:edema at birth

•

en:proximal limb muscle weakness initially

•

en:myofibromatosis

•

en:shoulder muscle weakness

•

en:muscle wasting (especially legs and arms)

•

en:increased endomysial fibrosis

•

en:hypotrophy of type 1 fibers

•

en:prominent veins, lower limbs

•

en:muscle biopsy shows fiber type disproportion

•

en:prominent muscular appearance

•

en:progressive interictal weakness is common

•

en:predominance of oxidative fibers

•

en:poor exercise tolerance

•

en:phagocytic vacuoles with degraded membranous material

•

en:nonspecific muscle fiber atrophy

•

en:nemaline rod formation

•

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

•

en:muscle weakness is not a feature

•

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

•

en:neck muscle hypoplasia

•

en:myotonia seen on emg

•

en:myositis (in some patients)

•

en:muscle wasting due to chronic denervation

•

en:muscle wasting, severe, primarily in the legs

•

en:muscle hypertrophy of the lower extremities

•

en:muscle fiber splitting and fibrosis seen on muscle biopsy

•

en:muscle biopsy shows fibrosis and increased connective tissue

•

en:ragged red fibers, mainly in type i fibers seen on skeletal muscle biopsy

•

en:proximal lower limb amyotrophy

•

en:thin musculature

•

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

•

en:superior rectus atrophy

•

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

•

en:z-band streaming

•

en:velopharyngeal muscle weakness

•

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

•

en:upper and/or lower limbs may be affected

•

en:type ii fiber predominance

•

en:type 1 muscle fiber predominance

•

en:tortuous lymphatic tracts

•

en:toe-walking gait

•

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

•

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

•

en:reduced subcutaneous fatty tissue

•

en:subsarcolemmal hyaline bodies in type 1 fibers only

•

•

en:small endplate

•

en:secondary myopathic features

•

en:rupture of tendon

•

en:rimmed vacuoles with basophilic granular material

•

en:rimmed vacuoles

•

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

•

en:rhabdomyolysis, episodic and recurrent

•

en:respiratory distress (congenital form)

•

en:muscle biopsy shows decreased activity of cytochrome c oxidase

•

en:imaging shows muscle atrophy and fatty replacement

•

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

•

en:calf muscle pseudohypertrophy

•

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

•

en:decreased expression of the vdac1 protein

•

en:decreased atp production

•

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

•

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

•

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

•

en:cox-depleted fibers

•

en:congenital, nonprogressive myopathy

•

en:central cores seen on muscle biopsy

•

en:bulbar weakness

•

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

•

en:atrophy of neck muscles may occur later

•

en:atrophy, neurogenic muscular

•

en:areflexia of lower limbs

•

•

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

•

en:absence of necrosis

•

en:abnormal z bands

•

en:abnormal fat distribution

•

en:abdominal wall muscle weakness (later onset)

•

en:abnormal variation in fiber type seen on muscle biopsy

•

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

•

en:distal muscle weakness due to neuropathy

•

en:muscle atrophy affecting the upper back and neck muscles

•

en:increased endomysial connective tissue around muscle fibers

•

en:muscle atrophy, severe

•

en:mitochondrial vacuolization seen on muscle biopsy

•

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

•

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

•

en:many fibers with internal nuclei

•

en:macroglossia

•

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

•

en:loss of lower-limb tendon reflexes

•

en:limb weakness, proximal followed by distal

•

en:increased fiber size variability

•

en:inclusions show positive immunostaining for sqstm1 and ubiquitin

•

en:edema is present at birth and then slowly decreases

•

en:hypoplasia of muscle

•

en:hip abductor weakness and atrophy

•

en:gluteal hypoplasia

•

en:generalized muscle weakness, severe

•

en:fibrillation

•

en:fiber type variation

•

en:fiber size variation (in some patients)

•

en:facial edema

•

en:enlarged vesicles of sarcoplasmic reticulum origin

•

en:endplate myopathy

•

en:abnormal size and shape of synaptic endplates

•

en:floppy infant syndrome

•

en:absence of merosin in muscle

•

en:muscle weakness restricted to the upper limb

•

en:pelvic girdle weakness

•

en:other mitochondrial complex enzyme activities may also be decreased

•

en:no staining for oxidative enzymes

•

en:no ragged-red fibers

•

en:normal neonatal period may occur before weakness is apparent

•

en:nonspecific myopathic changes

•

en:nemaline rods (in some patients)

•

en:nemaline bodies (rods) on gomori trichrome staining

•

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

•

en:muscle weakness following prolonged exercise

•

en:progression to proximal muscle weakness

•

en:muscle weakness, variable

•

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

•

en:muscle weakness, predominantly proximal

•

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

•

en:muscle fiber regeneration

•

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

•

en:muscle biopsy shows myofibrillar disruption

•

en:muscle biopsy shows degenerating endplates and junctional folds

•

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

•

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

•

en:primarily affects lower limbs

•

en:progressive distal and proximal symmetric limb weakness

•

en:muscle atrophy, upper and lower limbs

•

en:tendon tears

•

en:myasthenic syndrome, congenital, 1a, slow-channel

•

en:wrist swelling

•

en:weakness and wasting of the lower limbs

•

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

•

en:vacuoles are autophagocytic

•

en:upper limb muscle hypoplasia

•

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

•

en:tubular aggregates seen on muscle biopsy

•

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

•

en:thenar eminence hypoplasia

•

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

•

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

•

en:subsarcolemmal mitochondrial aggregates

•

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

•

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

•

en:small rounded fibers

•

en:small, angulated muscle fibers seen on muscle biopsy

•

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

•

en:rhabdomyolysis (in some patients)

•

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

•

en:relative muscle weakness, especially in pelvic girdle

•

en:reduced o-mannosyl glycans on alpha-dystroglycan

•

en:muscle atrophy (in some patients)

•

en:virtually no active movement at birth (wws)

•

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

•

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

•

en:enlarged mitochondria

•

en:emg shows myopathic changes

•

en:emg shows fibrillation potentials

•

en:distal muscle atrophy due to peripheral neuropathy

•

en:distal muscle atrophy due to neurologic disease

•

en:distal limb muscle weakness due to peripheral neuropathy

•

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

•

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

•

en:decreased shank muscle mass

•

en:cox-deficient fibers

•

en:fiber-type grouping pattern

•

en:coenzyme q10 deficiency

•

en:calf muscle hypoplasia

•

en:calf and thigh cramping muscle pains

•

en:axial hypotonia (in some patients)

•

en:atrophy of affected muscles, especially intrinsic hand muscles

•

en:angular atrophic fibers

•

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

•

en:accumulated lipid droplets seen on muscle biopsy

•

en:muscle atrophy, limb-girdle and proximal

•

en:absence of telethonin protein

•

en:fasciculations (less common)

•

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

•

en:marked variability of fiber size

•

en:increased connective tissue and fat in muscles

•

en:muscles have a woody consistency on palpation

•

en:mild atrophy of the proximal lower limbs

•

en:lymphedema of the extremities

•

en:lymphedema (lower limb)

•

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

•

en:large lipid droplets

•

en:internal nuclei (in some patients)

•

en:increased perisarcolemmal calcium deposition

•

en:increased endo- and perimysial connective tissue

•

en:increased variability in muscle fiber diameter

•

en:hyporeflexia or areflexia

•

en:glycogen depletion in skeletal muscle

•

en:generalized muscle hypertrophy

•

en:generalized weakness (adult-onset)

•

en:hypoplasia of latissimus dorsi muscle

•

en:gluteus maximus and thigh adductors most affected

•

en:frequent falls

•

en:gowers sign (in some patients)

•

•

en:hip flexor weakness

•

en:hypertonia late

•

en:muscle biopsy shows no dystrophic changes

•

en:nemaline bodies are usually subsarcolemmal or sarcoplasmic

•

en:necrosis and degeneration seen on muscle biopsy

•

en:muscle weakness, proximal more than distal

•

en:muscle paralysis, episodic

•

en:muscle fiber splitting

•

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

•

en:non-pitting edema

•

en:thenar amyotrophy (rare)

•

en:muscle biopsy shows necrotic and regenerating fibers

•

en:muscle biopsy shows myopathic or dystrophic changes

•

en:muscle biopsy shows hypotrophy of type 1 muscle fibers

•

en:muscle biopsy shows abnormal mitochondria

•

en:muscle activity is electrically silent on emg

•

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

•

en:lipid accumulation in muscle tissue

•

en:limb-girdle muscle weakness (2 families)

•

en:intranuclear inclusions (1 family)

•

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

•

en:increased muscle tone in the lower limbs

•

en:nonspecific myopathic changes seen on biopsy

•

en:progression to wheelchair in fourth decade

•

en:nonspecific myopathy seen on biopsy

•

en:rectus abdominis muscle separation

•

en:increased length of endplate regions seen on muscle biopsy

•

en:symmetrical muscle wasting

•

en:subsarcolemmal accumulation of mitochondria seen on skeletal muscle biopsy

•

en:some patients never achieve ambulation

•

en:smooth muscle may also become involved

•

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

•

en:shoulder muscle hypoplasia

•

en:rhabdomyolysis with exercise (in older patients)

•

en:reduced muscle tone but normal power

•

en:proximal muscle weakness, mild

•

en:normal muscle fiber (hcs)

•

en:prolonged endplate currents

•

en:presynaptic defect at the neuromuscular junction

•

en:preserved heel standing

•

en:pelvic girdle muscle weakness (occurs earlier)

•

en:patchy muscle fiber degeneration

•

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

•

en:paralysis of the lower limbs (later)

•

en:pain or cramping during sustained manual activity

•

en:no staining for periodic acid schiff (pas)

•

en:increased mitochondria with rare paracrystalline inclusions

•

en:distal lower limb amyotrophy

•

en:increased intraabdominal fat

•

en:biopsy shows nonspecific myopathy without rimmed vacuoles

•

en:delayed ambulation

•

en:decreased thiamine pyrophosphate

•

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

•

en:decreased immunostaining for alpha-sarcoglycan

•

en:decreased endplate potential and amplitudes

•

en:decreased coenzyme q10

•

en:decreased caveolin-3 expression on muscle biopsy

•

en:decreased adipose tissue around neck

•

en:contractures of upper limbs (in some patients)

•

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

•

en:difficulty running

•

en:atrophic skeletal muscle fibers on myosin staining

•

•

en:angulated atrophic muscle fibers

•

en:abnormal mitochondria

•

en:abnormal fiber size variation

•

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:ubiquinone decreased

•

en:deposits immunoreactive to beta-amyloid protein

•

en:difficulty walking and climbing stairs (patient a)

•

en:immunoreactivity for z-disk proteins

•

en:filamentous inclusions in muscle fibers

•

en:hypotrophy of the small hand muscles

•

en:hypotonia, profound

•

en:hypotonia, generalized, severe

•

en:hyporeflexia of lower limbs

•

en:hyporeflexia

•

en:hyaline inclusion

•

en:gait unsteady

•

en:frontalis muscle weakness

•

en:focal loss of cross- striations

•

en:facial paresis

•

en:distal muscle weakness, mild

•

en:exercise-induced muscle cramps

•

en:eosinophilic inclusions

•

en:emg shows myotonic changes

•

en:emg may show neurogenic changes

•

en:electron microscopy shows subsarcolemmal accumulations of abnormally shaped mitochondria

•

en:dystrophic features and atrophic fibers seen on muscle biopsy

•

en:dystrophic changes on biopsy

•

en:distal myopathy (in 1 family)

•

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

•

en:tubular aggregates in muscle fibers may occur

•

en:emg shows myopathic pattern

•

en:vacuoles are autophagocytic and contain granular and membranous cellular debris

•

en:muscle hematoma

•

en:normal or increased abdominal adipose tissue

•

en:neurogenic changes seen on emg and biopsy

•

en:muscle weakness in forearm muscles

•

en:muscle weakness and atrophy, proximal

•

en:muscle weakness, symmetric, proximal, lower limbs

•

en:muscle weakness, primarily proximal

•

en:muscle wasting in lower limbs

•

en:muscle hypertrophy may occur

•

en:muscle hypertonia

•

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

•

en:painful swelling in fasciae

•

en:muscle biopsy shows neurogenic changes

•

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

•

en:muscle biopsy shows dystrophic features

•

en:muscle biopsy shows disruption of the sarcolemmal membrane

•

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

•

en:muscle aches, intermittent

•

•

en:multi-core congenital myopathy

•

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

•

en:normal respiratory chain studies seen on muscle biopsy

•

en:pharyngeal muscle weakness

•

en:minicores extend full fiber diameter

•

en:skeletal muscle biopsy shows dystrophic changes

•

en:weakness of all intrinsic hand muscles (later)

•

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

•

en:vacuolar myopathy

•

en:umbilical cord bleeding

•

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

•

en:type 1 fiber atrophy

•

en:small nerve terminals

•

en:small atrophic muscle fibers

•

en:skeletal muscle biopsy shows minor variation in fiber size

•

en:shortened open channel duration

•

en:postexercise cmap amplitude facilitation

•

en:secondary loss of merosin and desmin

•

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

•

en:rigidity (uncommon)

•

en:reduced ankle dorsiflexion

•

en:red-ragged fibers (2p21del)

•

en:ragged-red fibers on muscle biopsy

•

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

•

en:proximal muscle atrophy (in some patients)

•

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

•

en:mitochondria are placed at the periphery of muscle fibers

•

en:onset of lymphedema around puberty

•

en:lymphedema of lower extremity

•

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

•

en:disruption plasma membrane (in some patients)

•

en:deltoid muscle hypoplasia

•

en:degenerating mitochondria

•

en:decremental cmap response to repetitive nerve stimulation

•

en:decreased numbers of achr

•

en:decreased mitochondrial complex v activity

•

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

•

en:decreased collagen vi

•

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

•

en:cytochrome-c oxidase deficiency

•

en:distal muscle weakness, occurs initially

•

en:cranial muscles spared

•

en:chronic denervation seen on emg

•

en:cap structures, when present, contain disorganized myofibrils and thickened z bands

•

en:calf hypertrophy (less common)

•

en:buffalo hump (rare)

•

en:biopsy shows degenerative changes consistent with myopathy

•

en:attacks precipitated by potassium

•

en:abnormal muscle tone

•

en:lower limbs more often affected

•

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

•

en:distal leg muscle atrophy

•

en:decreased activities of several mitochondrial respiratory enzymes

•

en:inclusion body myopathy

•

en:hypotonia, neonatal, severe (hcs)

•

en:lipoatrophy of trunk

•

en:distal muscle weakness, predominantly lower limbs

•

en:intracellular granular osmiophilic deposits

•

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

•

en:increased lysosomal glycogen

•

en:increased intramuscular fat

•

en:increased connective tissue (in some patients)

•

en:inclusions form a lobulated structure seen on electron microscopy

•

en:hypotonia at birth

•

en:hypotonia, mild

•

en:hypotonia, axial, severe

•

en:lipohypoplasia, regional

•

en:heterotopic bone formation in subcutaneous fat

•

en:glycogen accumulation seen on biopsy

•

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

•

en:finger and wrist extensor weakness

•

en:fiber type grouping

•

en:easy fatigue

•

en:dystrophic features

•

en:disuse atrophy

•

en:normal sensation

•

en:myofibrillar disintegration

•

en:myofibrillar lesions

•

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

•

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

•

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

•

en:plantar fibromatosis

•

en:muscular stiffness

•

en:poor musculature

•

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

•

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

•

en:muscular appearance

•

en:muscle weakness of limb

•

en:muscle weakness, upper and lower limbs

•

en:muscle weakness, severe, axial and proximal predominance

•

en:muscle weakness, proximal, limb-girdle

•

en:muscle weakness, mainly proximal and axial

•

en:muscle weakness, distal more than proximal

•

en:muscle cramps affect the upper and lower limbs

•

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

•

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

•

en:prolonged miniature endplate currents

•

en:progressive muscle weakness

•

en:abnormalities in myofibril organization

•

en:proximal muscle weakness, less severe

•

en:skeletal muscle biopsy shows impaired respiratory oxidation

•

en:muscle atrophy, proximal, upper and lower limbs

•

en:abnormal irregular myofibrillar network

•

en:winged scapula

•

en:waddling gait

•

en:variable decreases in mitochondrial respiratory complex enzyme activities

•

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

•

en:tubular aggregates seen on biopsy

•

en:spontaneous muscle activity

•

en:small round skeletal muscle fibers

•

en:small atrophic fibers (in some patients)

•

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

•

en:proximal muscle weakness (120270.0002)

•

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

•

en:shoulder muscle weakness (in some patients)

•

en:shortened open achr channel duration

•

en:severe disability within 20 years of onset

•

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

•

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

•

en:scattered necrotic fibers

•

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

•

en:relatively preserved limb strength

•

en:ragged red fibers seen on biopsy

•

en:muscle biopsy shows atrophic fibers

•

en:attacks last 4 to 24 hours

•

en:muscle atrophy, mild

•

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

•

en:emg shows myopathic and neurogenic changes

•

en:dystrophic changes

•

•

en:distal muscle weakness and atrophy

•

en:distal muscle atrophy, affecting the lower limbs

•

en:distal atrophy of the legs

•

en:depletion of mitochondrial dna

•

en:degenerate mitochondrial on em

•

en:decreased size of nerve terminals seen on muscle biopsy

•

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

•

en:exercise-induced weakness

•

en:decreased glycosylation of alpha-dystroglycan

•

en:decreased cytochrome c oxidase activity

•

en:cold sensitivity has been reported

•

•

en:calcific tendinitis

•

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

•

en:axial muscle hyperextension, episodic

•

en:absence of myotonia in infancy (congenital form)

•

en:apoptotic nuclei

•

en:amyotrophy, neurogenic

•

en:exercise-induced muscle stiffness

•

en:exercise intolerance (also seen in some heterozygotes)

•

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

•

en:increased centralized nuclei

•

en:mri shows fatty replacement

•

en:mitochondrial paracrystalline inclusion bodies

•

en:loss of gluteal adipose tissue

•

en:lipoatrophy (lower face, upper limb, buttock)

•

en:levator palpebrae superioris atrophy

•

en:lack of antigravity movements (patient b)

•

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

•

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

•

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

•

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

•

en:impaired mitochondrial respiration

•

en:exertional fatigue

•

en:hypotonia, severe, persistent

•

en:hypoplasia of infraspinatus muscle

•

en:hypoglycosylation of alpha-dystroglycan seen on muscle biopsy

•

en:hypertonia in infancy

•

en:giant granules in muscle cells

•

en:generalized muscle weakness, particularly affecting the limbs

•

en:fat accumulation in the suprabuttock area

•

en:fatty deposition

•

en:facial muscle atrophy of involved side

•

en:extensor muscle weakness more severe than flexor muscle weakness

•

en:absence of gamma-sarcoglycan protein

•

en:denervation seen on emg

•

en:angulated atrophic fibers

•

en:muscular hypotonia of the trunk

•

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

•

en:poor head control

•

en:peroneal muscle atrophy

•

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

•

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

•

en:no lipodystrophy in face and neck

•

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

•

en:neurogenic atrophy

•

•

en:muscle weakness usually does not occur

•

en:protein aggregates immunopositive for actin and desmin

•

en:muscle weakness, limb-girdle, mild

•

en:muscle weakness, congenital

•

en:muscle hypotonia

•

en:muscle fiber splitting (in some patients)

•

en:muscle biopsy shows type 2 fiber atrophy

•

en:muscle biopsy shows neurogenic atrophy (1 patient)

•

en:muscle biopsy shows neurogenic angulated fibers

•

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

•

en:muscle biopsy shows myofiber degeneration

•

en:muscle biopsy shows hypoglycosylation of alpha-dystroglycan

•

en:progressive proximal muscle involvement

•

en:proximal muscle weakness, limb-girdle distribution

•

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

•

en:small type ii fibers

•

en:ankle edema (finding)

•

en:vacuolar degeneration

•

en:type 2 fiber hypertrophy

•

en:tubular aggregates in type 2 skeletal muscle fibers

•

en:triceps aplasia

•

en:thin filament shortening and disorganization (in some patients)

•

en:thickening of fascia of forearm

•

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

•

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

•

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

•

en:shoulder girdle weakness

•

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

•

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

•

en:sarcoplasmic inclusions

•

•

en:rimmed vacuoles on biopsy

•

en:rhabdomyolysis, episodic

•

en:repetitive response to single nerve stimulus

•

en:redundancy of basal lamina with accumulated debris

•

en:recovery between attacks

•

en:quadriceps muscle spared

•

en:pseudoathletic appearance with prominent muscles before disease onset

•

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

•

en:tubular aggregates (in some patients)

•

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

•

en:decreased distal reflexes

•

en:electromyographic decrements in some muscles

•

en:edema of lower extremity

•

en:dystrophic changes seen on muscle biopsy

•

en:distal muscle weakness, affecting the lower limbs

•

en:distal muscle atrophy, predominantly affecting the lower limbs

•

en:defective glycosylation of alpha-dystroglycan seen on biopsy

•

en:deep finger muscle weakness

•

en:decreased quantal release

•

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

•

en:decreased hand grip strength

•

en:decreased caveolae in muscle tissue

•

en:emg shows polyphasic continuous motor unit discharges

•

en:complex v deficiency

•

en:changes in sarcoplasmic reticulum and t-tubules

•

en:calf hypertrophy (uncommon)

•

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

•

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

•

en:biopsy shows myopathy without vacuoles

•

en:axial muscle weakness

•

en:attacks relieved by potassium administration

•

en:attacks may present during or after sleep

•

en:mitochondria show paracrystalline inclusions

•

en:emg shows fasciculations

•

en:biopsy shows dystrophic changes

•

en:enlarged terminal cisternae of the sarcoplasmic reticulum

•

en:inability to stand on tiptoes

•

en:extensor finger muscle weakness

•

en:misplaced mitochondria seen on skeletal muscle biopsy

•

en:mildly decreased cytochrome c oxidase activity

•

en:mitochondrial proliferation

•

en:limb muscular atrophy

•

en:limb muscle weakness, proximal, upper and lower

•

en:lack of adipose tissue on limbs and femorogluteal regions

•

en:interfibrillar and subsarcolemmal vacuoles

•

en:increased lipid

•

en:increased fat and fibrous tissue

•

en:loss of ambulation between third and sixth decade

•

en:hypotonia, generalized (in some patients)

•

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

•

en:hyporeflexia in affected muscles

•

en:fiber-type variability

•

en:flaccid neck

•

en:fibrillations in affected muscles

•

•

en:generalized lipodystrophy (abnormal distribution of subcutaneous fat)

•

en:generalized muscular appearance from birth

•

en:hypertrophy of the extensor digitorum brevis muscles

•

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

•

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

•

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

•

en:normal phosphorylase kinase activity in muscle

•

en:neonatal hypertonias

•

en:nemaline myopathy (in 1 reported male)

•

en:myopathy, nonprogressive

•

en:muscle weakness and atrophy

•

en:muscle weakness, severe, proximal and distal

•

en:muscle weakness, proximal greater than distal

•

en:muscle cramps, painful, recurrent

•

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

•

en:muscle hyperirritability

•

en:muscle fibers appear as fetal myotubules

•

en:muscle biopsy shows type i fiber predominance

•

en:muscle biopsy shows nemaline rods

•

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

•

en:muscle biopsy shows lipid droplets

•

en:muscle atrophy restricted to the upper limb

•

en:muscle atrophy, primarily in the legs

•

en:multiple mitochondrial dna deletions

•

en:rare necrotic fibers

•

en:z-disk degeneration

•

en:short and thickened z-discs

•

en:abnormal mitochondria in skeletal muscle biopsy

•

en:cellulitis in lower limbs, recurrent

•

en:mildly reduced respiratory enzyme activities except for complex ii

•

en:calf hypertrophy (early in the disease)

•

en:autophagic rimmed vacuoles

•

en:atrophy of anterior compartment tibial muscles

•

en:areflexia due to muscle weakness

•

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

•

en:adiposis on mri

•

en:adhalin deficiency seen on muscle biopsy

•

en:muscle soft, tissue

•

en:skeletal muscle may show less severe mtdna deletion

•

en:variable deficiencies of mitochondrial respiratory chain enzymes

•

en:unable to walk

•

en:type 1 fibers with inclusions containing myh7 protein aggregates

•

en:symptoms may be induced by heat

•

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

•

en:stiffness (uncommon)

•

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

•

en:skeletal myopathy

•

en:skeletal muscle shows dystrophic changes

•

en:mri may show cervical spinal cord atrophy

•

en:distal muscle weakness occurs later

•

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

•

en:biopsy muscle normal

•

en:distal limb muscle atrophy due to peripheral neuropathy

•

en:distal limb muscle atrophy, lower more than upper

•

en:disruption of the sarcolemmal membrane seen on muscle biopsy

•

en:difficulty running or inability to run

•

en:decreased numbers of achr seen on muscle biopsy

•

en:decreased mitochondrial respiratory activities (in some patients)

•

en:decreased ability to run

•

en:calf pseudohypertrophy rare

•

en:calcium accumulation in junctional folds seen on muscle biopsy

•

en:atrophy of the intrinsic foot and hand muscles

•

en:distal muscle atrophy, predominantly lower limbs

•

en:atrophic fibers

•

en:ankle reflex absent

•

en:alimentary edema

•

en:acute rhabdomyolysis

•

en:absence of muscle pseudohypertrophy

•

en:abnormal sarcoplasmic reticulum elements

•

en:abnormal mitochondria with loss of cristae

•

en:abnormal iron deposition in mitochondria

•

en:congenital myopathy (in one patient)

•

en:distal limb muscle weakness and atrophy

•

en:distal muscle weakness, predominantly affecting the lower limbs

•

en:lymphedema of lower limbs (in some patients)

•

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

•

en:loss of subcutaneous fat, diffuse

•

en:loss of subcutaneous and visceral adipose tissue, mild

•

en:loss of ability to walk in early childhood

•

en:involves upper and lower proximal muscles

•

en:internal nuclei

•

en:increased fibrosis (family a)

•

en:increased falls

•

en:hypotonia, truncal and appendicular

•

en:hypoplasia of supraspinatus muscle

•

•

en:dystrophic changes may be present

•

en:haemorrhage subcutaneous

•

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

•

en:generalized limb muscle atrophy

•

en:flaccid weakness or paralysis, episodic attacks

•

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

•

en:emg may showed myotonic discharges

•

en:electromyography shows myotonic discharges

•

en:edema (hands and feet)

•

•

en:dystrophic changes seen on skeletal muscle biopsy

•

en:centralized myonuclei

•

en:distal limb muscle atrophy (less common)

•

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

•

en:muscle weakness may affect upper limbs

•

en:pelvic girdle muscle atrophy

•

en:partial lipodystrophy (abnormal distribution of adipose tissue)

•

en:no dystrophic changes

•

en:normal mitochondrial morphology (1 patient)

•

en:nemaline rods may be observed

•

en:myopathic and neurogenic changes seen on emg

•

en:myofibrillar myopathy

•

•

en:muscular dystrophy (in 1 of 3 patients)

•

en:muscle weakness begins proximally

•

en:predominantly lower limb lymphedema

•

en:muscle weakness, severe, diffuse

•

en:muscle weakness, lower limbs, during exercise

•

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

•

en:muscle spasticity

•

en:muscle rigidity

•

en:muscle fibers are immunoreactive for desmin and vimentin

•

en:muscle biopsy shows small rounded fibers

•

en:muscle biopsy shows ragged red fibers

•

en:muscle biopsy shows mitochondrial aggregates

•

en:poor muscle mass

•

en:preserved nerve terminals seen on muscle biopsy

•

en:muscle biopsy shows dystrophic pattern

•

en:secondary myopathic changes

•

en:weakness of neck extensors (rare)

•

en:type 1 fiber predominance

•

en:transient neonatal hypotonia (less common)

•

en:toe and foot dorsiflexor weakness

•

•

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

•

en:small and incompletely fused muscle fibers seen on biopsy

•

en:decreased activity of respiratory complex ii+iii

•

en:severe form shows absence of spontaneous activity at birth

•

en:secondarily decreased activities of mitochondrial respiratory enzymes (1 patient)

•

en:progressive loss of facial adipose tissue

•

en:rupture of muscle

•

en:rhabdomyolysis may occur

•

en:retroperitoneal fibrosis (rare)

•

en:reduced muscle mass

•

en:ragged red fibers seen on skeletal muscle biopsy

•

en:ragged-red muscle fibers

•

en:proximal muscle weakness (occasional)

•

en:proximal muscle weakness (85% of patients)

•

en:proximal amyotrophy

•

en:muscle biopsy shows lipid deposition

•

en:shortening of various muscle-tendon groups in legs

•

en:muscle atrophy appears later in disease course

•

en:distal muscle atrophy, lower legs

•

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

•

en:familial generalized lipodystrophy

•

en:emg shows chronic denervation

•

en:emg may show myopathic features

•

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

•

en:edematous hands and feet (1 patient)

•

•

en:distal muscle weakness may occur

•

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

•

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

•

en:generalized hypotonia due to defect at the neuromuscular junction

•

en:distal amyotrophy (hands and feet)

•

en:difficulty walking and climbing stairs

•

en:difficulty rising from chair

•

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

•

en:dense membranous structure surrounding nuclei on electron microscopy

•

en:decreased mitochondrial complex iii activity seen on muscle biopsy

•

en:decreased cytochrome c oxidase staining

•

en:decreased coenzyme q10 content

•

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

•

en:fiber type variation seen on biopsy

•

en:decreased or absent ankle reflexes

•

en:gowers sign present

•

en:lafora bodies (accumulation of polyglucosan) seen on skeletal muscle biopsy

•

en:mri shows increased connective tissue and fat

•

en:humeroperoneal weakness and atrophy

•

en:mitochondrial myopathy, severe

•

en:loss of independent ambulation around age 12 years

•

en:loss of ambulation

•

en:lipomas or lipomatous masses (most cases)

•

en:limb weakness and atrophy

•

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

•

•

en:mitochondrial complex iii deficiency (disorder)

•

en:intrasarcoplasmic dense granulofilamentous aggregates that are immunoreactive with desmin

•

en:increased fibrosis

•

en:increased fatty and connective tissue in skeletal muscle

•

en:impaired heel-walking

•

en:hypotonia (45%)

•

en:hypoglycosylation of alpha-dystroglycan

•

en:hypotonia, severe (patient b)

•

en:hypoplasia of the hand muscles (29%)

•

en:hypotonia, neonatal and later

•

en:increased internal nuclei seen on muscle biopsy

•

en:hypotonia (patients a and c)

•

en:hypotrophic type 2 muscle fibers

•

en:generalized muscle weakness, proximal and distal

•

en:hypoplasia of cervical paravertebral muscles

•

en:hypertonicity of the lower limbs

•

en:grip strength decreased

•

en:inability to run

•

en:internal nuclei seen on muscle biopsy

•

en:increased muscle tone at birth

•

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

•

en:increased subcutaneous truncal adipose tissue

•

•

en:lipid droplet accumulation

•

en:marked muscular hypertrophy

•

en:mildly increased mtdna

•

en:gastrocnemius and soleus muscles most affected

•

en:mitochondrial swelling

•

en:generalized amyotrophy

•

en:distal muscle wasting due to peripheral neuropathy

•

en:fibrous dysplasia (rare)

•

en:disarray of mitochondrial cristae seen on muscle biopsy

•

en:muscle biopsy shows decreased glycosylation of alpha-dystroglycan

•

en:decremental response on 3-hz repetitive nerve stimulation

•

en:degenerating fibers

•

en:delayed motor development (cvs+)

•

en:difficulty raising arms

•

en:difficulty running and jumping

•

en:difficulty standing

•

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

•

en:facial muscle atrophy

•

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

•

en:easy fatigability

•

en:emg shows myopathic or neurogenic changes

•

en:emg shows myopathy

•

en:endplate abnormalities

•

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

•

en:exercise capacity decreased

•

en:multiple mitochondrial respiratory enzymes deficiencies seen on biopsy

•

en:some subcutaneous adipose tissue may remain on upper arms

•

en:muscle biopsy shows inflammation with t cells

•

en:vacuoles containing neutral lipids seen on muscle biopsy

•

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

•

en:superficial rerouting of lymph through the skin

•

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

•

en:truncal hypotonia (family a)

•

en:type 2 muscle fiber atrophy

•

en:type ii fiber atrophy seen on muscle biopsy

•

en:underdeveloped muscles (in some patients)

•

en:variability in fiber size

•

en:skeletal muscle damage

•

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

•

en:variation of myofiber diameter

•

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

•

en:weakness of the anterior tibial muscle and toe extensors

•

en:weakness worsened by activity

•

en:almost complete absence of large diameter fibers

•

en:distal upper limb muscle weakness

•

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

•

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

•

en:muscle cramps at rest

•

en:myotonia is usually not seen

•

en:muscle pain (in some patients)

•

en:muscle weakness, proximal and distal

•

en:muscle weakness after cooling or on warming affected muscle

•

en:muscle weakness and atrophy, distal

•

en:muscle weakness is predominantly of extremities and tongue

•

en:muscular atrophy

•

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

•

en:necrotic and regenerating fibers

•

en:sarcomere disappearance seen on muscle biopsy

•

en:neurogenic changes later in disease seen on emg

•

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

•

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

•

en:nuclear clumps

•

en:panniculitis

•

en:percussion-induced muscle mounding (muscle rippling)

•

en:percussion myotonias

•

en:decreased muscle succinate dehydrogenase

◀

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

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=9094418 • caches: c1=6 c2=1002 c3=1

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