Diko : en:emg shows myotonic discharges in the absence of clinical myotonia

en:emg shows myotonic discharges in the absence of clinical myotonia

Catégories

Nom

Informations lexicales

Langue:anglais

Liens externes

›

umls:C1839620

Associations d'idées

[F]

›

586

Hypotonie musculaire

•

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

•

en:biceps aplasia

•

en:evidence of lymphatic rerouting

•

en:distal muscle atrophy, predominantly lower limbs

•

en:many fibers with internal nuclei

•

en:muscle biopsy shows peripheral accumulation of abnormal mitochondria

•

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

•

en:muscle weakness, distal more than proximal

•

en:ascites (in some patients)

•

en:peroneal muscle weakness and atrophy due to peripheral neuropathy

•

en:quadriceps aplasia

•

en:fiber-type grouping pattern

•

en:muscle biopsy shows lipid droplets

•

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

•

en:increased muscle tone at birth

•

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

•

en:neck muscle weakness

•

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

•

oedème facial

•

en:atrophia

•

en:proximal muscle weakness

•

en:atrophy

•

en:fasciculation

•

en:face edema

•

oedème de la face

•

oedème du visage

•

en:atrophy, neurogenic muscular

•

en:fibromyalgia

•

en:decreased exercise tolerance

•

en:congenital fiber-type disproportion

•

en:proximal myopathy

•

en:distal lower limb muscle weakness

•

en:poor head control

•

en:weak extraocular muscles

•

en:relative sparing of the rectus femoris

•

en:distal limb muscle weakness, lower more than upper

•

en:acute rhabdomyolysis

•

en:increased centralized nuclei

•

en:thickening of fascia of forearm

•

en:hang weakness

•

en:lipoatrophic appearance

•

en:muscle biopsy shows atrophy

•

en:mildly decreased cytochrome c oxidase activity

•

en:abnormal mitochondrial proliferation

•

en:vacuoles containing neutral lipids seen on muscle biopsy

•

en:proximal muscle weakness, less severe

•

en:limb muscle weakness and atrophy, distal, neurogenic

•

en:gait disturbance

•

Oedème

•

en:decreased postsynaptic folding at the neuromuscular junction

•

exomphale

•

hernies ombilicales

•

exomphale congénitale

•

en:skeletal muscle weakness

•

fasciculation musculaire

•

en:relative sparing of the tibialis anterior

•

en:lipid droplets seen on muscle biopsy

•

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

•

en:abnormal sarcoplasmic reticulum elements

•

en:axial weakness

•

en:easy fatigue

•

en:muscle amyotrophy

•

en:degrading mitochondria

•

en:generalized muscle contractions, episodic

•

en:proximal muscle weakness (120270.0002)

•

en:filamentous inclusions in muscle fibers

•

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

•

en:arm/shoulder muscle hypoplasia

•

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

•

en:wasted lower leg muscles

•

en:relative muscle weakness, especially in pelvic girdle

•

en:myopathy, mild

•

en:nemaline rods (rare)

•

en:muscle atrophy, severe

•

en:pelvic girdle muscle atrophy

•

en:wide variation in fiber size

•

en:muscle biopsy shows neurogenic atrophy affecting both fibers types

•

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

•

en:decreased muscle mass, especially distally

•

en:hypotonia, generalized (in some patients)

•

en:muscle weakness, severe, axial and proximal predominance

•

en:painful swelling in aponeuroses

•

en:chronic denervation seen on skeletal muscle biopsy

•

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

•

en:deafferentation

•

en:giant granules in muscle cells

•

en:limb-girdle muscle weakness (2 families)

•

en:atrophy of upper girdle muscles

•

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

•

en:biopsy muscle normal

•

en:enteroviral dermatomyositis syndrome

•

en:contractures of upper limbs (in some patients)

•

en:calf hypertrophy (in some patients)

•

parésie

•

en:gait unsteady

•

en:polymyositis

•

en:myofibrillar myopathy

•

en:lymphangiectasia

•

en:glycogen accumulation seen on biopsy

•

en:distal muscle atrophy (1 patient)

•

faiblesse de muscle

•

en:loss of subcutaneous fat, particularly affecting the limbs

•

en:paracrystalline inclusions

•

en:minicores (in some)

•

désafférentation

•

hypothyroïdie (manifestations neuromusculaires dans l')

•

remaniement nécrotique

•

en:muscular weakness

•

en:omphalocele

•

omphalocèles

•

autophagosome

•

atrophie musculaire neurogénique

•

en:tortuous lymphatic tracts

•

en:weakness of all intrinsic hand muscles (later)

•

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

•

en:triceps aplasia

•

en:syphilitic meningoencephalitis

•

en:type 2 fiber predominance

•

en:necrotic and atrophic fibers with centralized nuclei

•

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

•

en:increased endomysial fibrosis

•

en:hypoplasia of latissimus dorsi muscle

•

en:lower limb muscle hypotrophy

•

en:dystrophic features and atrophic fibers seen on muscle biopsy

•

en:knee and hip flexor weakness due to peripheral neuropathy

•

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

•

en:scapular muscle atrophy

•

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

•

en:muscle atrophy, primarily in the legs

•

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

•

en:ragged red fibers (in some patients)

•

en:myalgia with febrile episodes (rare)

•

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

•

en:increased mitochondria seen on muscle biopsy

•

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

•

en:increased focal mitochondrial density

•

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

•

en:muscle aches, cramps

•

en:neurogenic changes

•

en:predominance of oxidative fibers

•

en:abnormal mitochondria with paracrystalline inclusions seen on muscle biopsy

•

en:proximal muscle atrophy (in some patients)

•

en:fasciculations (in some patients)

•

en:dysphagia

•

en:difficulty running and jumping

•

en:buffalo hump (rare)

•

en:dystrophic features seen on muscle biopsy

•

en:benign soft tissue developmental anomalies

•

en:centrally located nuclei seen on muscle biopsy

•

en:angular atrophic fibers

•

faiblesse du muscle

•

en:muscular rigidity

•

en:edema

•

atrophie

•

en:muscle weakness

•

en:proximal muscles may be mildly affected

•

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

•

en:predominantly lower limb lymphedema

•

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

•

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

•

en:thick palmar fascia

•

macroglossie

•

myopathie myofibrillaire

•

en:general paralysis

•

en:paralytic dementia

•

empâtement de la nuque et du cou

•

en:hyporeflexia

•

en:twitching

•

en:ankle reflex absent

•

en:mild decrease in mitochondrial respiratory chain activity

•

en:distal limb atrophy (upper and lower)

•

en:hematomphalus

•

en:type 2 fiber atrophy see on biopsy

•

en:mitochondrial vacuolization seen on muscle biopsy

•

en:increased connective tissue (in some patients)

•

en:muscle pain after exercise

•

en:increased mitochondria with abnormal cristae

•

en:muscle weakness due to peripheral neuropathy

•

en:congophilic eosinophilic inclusions

•

en:poor sarcomeric structure (in some patients)

•

en:replacement of myofibers with connective tissue

•

en:muscle weakness, episodic

•

en:small, angulated muscle fibers seen on muscle biopsy

•

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

•

en:decreased muscle mass (predominantly in lower extremities)

•

en:glycogen deficiency in muscle fibers

•

en:prominent veins, lower limbs

•

en:muscle weakness (in 90% of patients)

•

en:fiber type variation seen on biopsy

•

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

•

en:extensive fatty infiltration on biopsy

•

en:hypertonicity (uncommon)

•

en:mild distal muscle atrophy

•

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

•

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

•

en:scapuloperoneal weakness

•

en:fragmented mitochondrial network

•

en:accumulated lipid droplets seen on muscle biopsy

•

en:distal myopathy (in 1 family)

•

fibrillation

•

déficit en cytochrome-c oxydase

•

déficit en cytochrome oxydase

•

en:necrotic change

•

en:muscular hypotonia of the trunk

•

oedème

•

en:myokymia

•

en:areflexia of lower limbs

•

en:muscle fatigue

•

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

•

en:rigidity (uncommon)

•

en:biopsy shows myopathy without vacuoles

•

en:muscle biopsy shows sarcoplasmic rods in myofibers

•

en:defective glycosylation of alpha-dystroglycan seen on biopsy

•

hypotonie musculaire

•

en:feebleness

•

en:gait, drop foot

•

hypertonie

•

fibromyalgie

•

en:umbilical hernia

•

fasciculation d'un muscle squelettique

•

en:rare necrotic fibers

•

en:poor muscle mass

•

en:fiber-type variability

•

en:focal lymphocytic and macrophage infiltrates on biopsy

•

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

•

en:muscle wasting, severe, primarily in the legs

•

en:subsarcolemmal lipofuscin-positive deposits

•

en:muscle weakness, symmetric, proximal, lower limbs

•

en:abnormal axons with sprouting and swelling

•

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

•

en:atrophy of type 1 and type 2 fibers

•

en:numerous vacuole-like areas

•

en:loss of ambulation (in some patients)

•

en:peroneal muscle weakness

•

en:muscle strength and bulk is preserved

•

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

•

en:myopathy (in some patients)

•

en:myopathic changes seen muscle biopsy

•

en:muscle atrophy (in some patients)

•

en:inability to sit or hold head up

•

en:protein aggregates immunopositive for actin and desmin

•

en:muscle fibers contain internal nuclei

•

en:muscle weakness may affect upper limbs

•

en:muscle fatigability

•

en:sarcomere disappearance seen on muscle biopsy

•

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

•

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

•

en:muscle weakness, hypokalemia-related

•

en:hypoglycosylation of alpha-dystroglycan

•

en:secondary hypertrophy

•

en:hypotonia, severe, neonatal

•

en:disruption plasma membrane (in some patients)

•

en:infantile axial hypotonia

•

en:inclusions form a lobulated structure seen on electron microscopy

•

en:atrophic muscle fibers

•

en:exercise capacity decreased

•

lipome

•

en:edema limbs

•

faiblesse musculaire

•

en:progressive muscle weakness

•

en:percussion myotonias

•

en:muscle hypertrophy

•

en:myopathy with abnormal lipid metabolism

•

en:recovery between attacks

•

en:hypotonia

•

en:tremor of the upper limb

•

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

•

tirant d'un coup sec

•

en:macroglossia

•

en:ombilical hernia

•

rhabdomyolyse

•

en:wide-based gait

•

lymphangiectasie

•

bosse de bison

•

spasme carpopédal

•

en:secondary loss of merosin and desmin

•

en:stiffness (uncommon)

•

en:muscle biopsy shows nemaline rods

•

en:increased muscle tone (early in life)

•

en:tubular aggregates (in some patients)

•

en:myosin storage myopathy (in some patients)

•

en:gowers sign (in some patients)

•

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

•

en:generalized muscle weakness also seen in symptomatic carrier females

•

en:increased glycogen in muscle

•

en:secondary myopathic changes

•

en:slim, muscular build (in some patients)

•

en:shoulder girdle muscle weakness and atrophy, progressive

•

en:muscle weakness, severe

•

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

•

en:lack of adipose tissue on limbs and femorogluteal regions

•

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

•

en:muscle weakness (1 patient)

•

en:thenar eminence hypoplasia

•

en:decreased density of calcium release units

•

en:muscle weakness, severe, proximal and distal

•

en:muscle wasting (especially legs and arms)

•

en:rhabdomyolysis (in some patients)

•

en:wrist swelling

•

en:myotonia (delayed muscle relaxation after contraction)

•

en:myositis (in some patients)

•

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

•

en:subcutaneous edema

•

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

•

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

•

en:no myofibrillar abnormalities or protein aggregation

•

en:fibrous dysplasia (rare)

•

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

•

en:muscle pain and cramping on exertion

•

en:jitter

•

en:increased variability of fiber size seen on muscle biopsy

•

en:lipid and glycogen accumulation

•

en:internal nuclei seen on muscle biopsy

•

en:abnormal mitochondrial morphology

•

en:lipoma

•

fasciculation

•

myotonie

•

parésie musculaire

•

en:leg edema

•

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

•

en:axial muscle hyperextension, episodic

•

en:generalized hypotonia

•

en:calf muscle enlargement

•

en:marked variability of fiber size

•

en:exumbilication

•

dysphagia

•

en:exomphalos

•

hernie ombilicale

•

en:plantar fibromatosis

•

hypotonie du nouveau-né

•

contraction clonique

•

en:muscular fasciculation

•

en:tubular aggregates mainly in type 1 fibers

•

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

•

en:muscle weakness and atrophy, distal

•

en:symmetrical muscle wasting

•

incapable de marcher

•

en:small endplate

•

en:distal muscle weakness, predominantly lower limbs

•

en:head drop due to neck muscle weakness

•

en:distal muscle wasting, mild

•

en:lack of integrin alpha-7 staining

•

en:global muscle weakness

•

en:variability in fiber size

•

en:bilateral foot drop

•

en:fatty infiltration seen on muscle biopsy

•

en:skeletal muscle damage

•

en:muscle biopsy shows decreased glycosylation of alpha-dystroglycan

•

en:muscle biopsy shows atrophic fibers

•

en:nonspecific myopathic changes seen on biopsy

•

en:edematous hands and feet (1 patient)

•

en:muscle hypertrophy in affected area

•

en:hypotonia, mild (1 patient)

•

en:muscle weakness and atrophy

•

en:multi-core congenital myopathy

•

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

•

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

•

en:increased mitochondria with rare paracrystalline inclusions

•

en:nonspecific myopathic changes

•

en:impaired toe-walking

•

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

•

en:atrophy, mild (in some cases)

•

en:redundancy of basal lamina with accumulated debris

•

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

•

en:muscle biopsy shows grouped atrophy

•

en:easy fatigability with exercise

•

en:limb muscular atrophy

•

en:impaired heel-walking

•

en:generalized muscle hypertrophy

•

en:myofibromatosis

•

en:hand muscle atrophy

•

en:axial muscle weakness

•

en:broad-based gait

•

en:hypertonia

•

en:myasthenias

•

en:fibrillation

•

en:exercise-induced myalgia

•

en:pelvic girdle weakness

•

en:increased intermyofibrillar and subsarcolemmal glycogen

•

en:reduced subcutaneous adipose tissue

•

en:lymphedema of lower limbs (in some patients)

•

en:absence of some scapular muscles (less common)

•

en:limb lymphedema (in some patients)

•

myalgie

•

en:autophagosome

•

en:facial edema

•

en:oedema

•

hernie ombilicale congénitale

•

omphalocèle

•

hypotonie

•

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

•

en:abnormal fat distribution

•

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

•

en:variable deficiencies of mitochondrial respiratory chain enzymes

•

en:buffalo hump

•

myokymie

•

en:nemaline bodies

•

en:sarcoplasmic accumulation of electron-dense granulofilamentous material

•

en:impaired mitochondrial respiration

•

en:muscle atrophy, diffuse, severe

•

en:muscle paralysis, episodic

•

en:myopathic changes seen on biopsy

•

en:myoclonic spasms

•

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

•

en:proximal muscle weakness, lower limbs, mild

•

en:nemaline myopathy (in 1 reported male)

•

en:mild atrophy of the proximal lower limbs

•

en:muscle biopsy shows cytochrome c oxidase-negative fibers

•

en:rimmed vacuoles

•

en:fat pads on the hands and feet

•

en:calf and thigh cramping muscle pains

•

en:muscle weakness, primarily proximal

•

en:multiple mitochondrial respiratory enzymes deficiencies seen on biopsy

•

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

•

en:myopathic features seen on biopsy

•

en:muscle weakness and atrophy, progressive

•

en:fat accumulation in the suprabuttock area

•

en:muscle weakness, mainly proximal and axial

•

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

•

en:difficulty walking up stairs

•

en:dystrophic changes, mild, seen on muscle biopsy

•

en:facial muscle atrophy of involved side

•

paralysie générale

•

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

•

en:chronic weakness

•

en:denervation of skeletal muscles

•

en:abnormal fiber size variation seen on muscle biopsy

•

en:unable to walk

•

en:paresis

•

en:floppy infant

•

en:alimentary edema

•

en:hematomas, recurrent large subcutaneous

•

en:difficulty standing

•

en:neonatal hypotonia

•

en:carpopedal spasm

•

en:central nuclei

•

en:accumulation of abnormal mitochondria

•

en:calf muscle hypoplasia

•

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

•

en:megaloglossia

•

?dème

•

en:adrenal cytomegaly

•

en:gigantism and hyperplastic visceromegaly

•

polymyosite

•

fatigue musculaire

•

en:weakness of neck extensors (rare)

•

en:muscle twitch

•

en:ubiquinone decreased

•

dysphagie

•

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

•

cou de bison

•

en:amyotrophy, neurogenic

•

en:normal phosphorylase kinase activity in muscle

•

en:structurally abnormal mitochondria

•

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

•

en:distal muscle atrophy, predominantly affecting the lower limbs

•

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

•

en:weakness of the anterior tibial muscle and toe extensors

•

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

•

en:lower limbs more often affected

•

en:muscle weakness, limb-girdle, mild

•

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

•

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

•

en:proximal muscle weakness (in some patients)

•

en:muscle biopsy shows mitochondrial aggregates

•

en:decreased activities of several mitochondrial respiratory enzymes

•

en:cox-negative fibers seen on muscle biopsy

•

en:lymphoscintigraphy shows impaired lymphatic uptake and drainage

•

en:muscle fiber splitting (in some patients)

•

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

•

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

•

en:muscle weakness following prolonged exercise

•

en:loss of subcutaneous and visceral adipose tissue, mild

•

en:type 1 fiber atrophy seen on muscle biopsy

•

en:increased fiber size variability

•

en:subsarcolemmal mitochondrial aggregates

•

en:distal muscle weakness, predominantly affecting the lower limbs

•

en:myotonia

•

en:fatty deposition

•

en:central cores seen on muscle biopsy

•

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

•

en:distal amyotrophy (hands and feet)

•

en:decreased activity of cytochrome c oxidase (in most cases)

•

en:anasarca

•

en:polyglucosan accumulation

•

parésié

•

en:decreased activity of mitochondrial complex i

•

en:abnormal subcutaneous fat tissue distribution

•

en:necrotic process

•

en:hyporeflexia of lower limbs

•

en:proximal muscle weakness, limb-girdle distribution

•

en:hypoplasia of muscle

•

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

•

en:adhalin deficiency seen on muscle biopsy

•

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

•

en:minicores or core-like regions may be present

•

en:distal lower limb anterior compartment weakness

•

hypotonie, obésité et incisives proéminentes

•

en:Umbilical hernia

•

en:general paresis

•

en:macies

•

en:hypoactive gag reflex

•

jitter

•

en:necrosis and degeneration seen on muscle biopsy

•

en:neuropathic process seen on muscle biopsy

•

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

•

en:muscle atrophy, mild

•

en:proximal muscles more often affected

•

en:muscle atrophy (1 patient)

•

en:water thesaurismosis

•

en:signs of denervation seen on biopsy

•

en:hypertonicity of the lower limbs

•

en:swelling of the hands and feet, episodic

•

en:enlarged vesicles of sarcoplasmic reticulum origin

•

en:aggregates contain granular electron-dense material

•

en:increased fat and fibrous tissue

•

en:toe and foot dorsiflexor weakness

•

en:distal muscular atrophy due to peripheral neuropathy

•

en:low maximum workload on exercise testing

•

en:loss of sarcomeric striations

•

en:lipid accumulation in muscle tissue

•

en:decreased muscle mass (especially of limbs)

•

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

•

en:myogenic profile on electromyography

•

en:limb weakness, proximal followed by distal

•

en:ragged red fibers seen on biopsy

•

en:biopsy shows myopathic and dystrophic changes

•

en:muscle biopsy shows hypoglycosylation of alpha-dystroglycan

•

en:axial hypotonia (in some patients)

•

en:ring fibers

•

en:muscular dystrophy (in some patients)

•

en:tubular aggregates seen on muscle biopsy

•

en:contractures of distal lower limbs

•

en:type 1 fiber predominance seen on muscle biopsy

•

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

•

en:defects in lipoate-containing mitochondrial enzyme complexes

•

en:disorganized myofilaments seen on muscle biopsy

•

en:enlarged terminal cisternae of the sarcoplasmic reticulum

•

en:difficulty raising arms

•

en:decreased mitochondrial respiratory activities (in some patients)

•

en:atrophy of shins

•

en:generalized weakness (adult-onset)

•

en:distal limb muscle atrophy, lower more than upper

•

en:hypotonia, infantile, severe

•

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

•

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

•

en:neonatal hypertonias

•

en:severe muscular hypotonia

•

en:rhabdomyolysis

•

en:mitochondrial myopathy

•

en:myalgia

•

en:berardinelli-seip congenital lipodystrophy

•

en:lower and upper limbs affected

•

en:exertional leg pain

•

en:tubular aggregates seen on biopsy

•

en:enlarged nuclei with central pallor

•

en:muscle weakness, distal (in some patients)

•

en:muscular hypotonia

•

spasme carpo-pédal

•

hypertrophie staturale avec macroglossie et omphalocèle

•

ophtalmoplégie, hypotonie, ataxie, hypoacousie et athétose

•

en:clumsiness

•

élargissement du polygone de sustentation

•

en:toe-walking gait

•

atrophie musculaire neurogène

•

secousse musculaire

•

en:subcutaneous fat markedly reduced

•

en:increased lipid

•

en:reduced lower limb subcutaneous fat

•

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

•

en:small rounded fibers

•

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

•

en:progressive proximal muscle involvement

•

en:disruption of the sarcolemmal membrane seen on muscle biopsy

•

en:presynaptic defect at the neuromuscular junction

•

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

•

en:ascending muscle weakness (beginning with feet and legs)

•

en:protein aggregates resembling myofibrillar myopathy may be present

•

en:upper and/or lower limbs may be affected

•

en:small or absent axon terminals

•

en:loss of lower-limb tendon reflexes

•

en:deficiency of mitochondrial respiratory enzymes seen on muscle biopsy

•

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

•

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

•

en:cytochrome-c oxidase deficiency

◀

‹

707

faiblesse de muscle

•

en:muscle weakness

•

en:paresis

•

faiblesse du muscle

•

faiblesse musculaire

•

parésie musculaire

•

parésie

•

paralysie générale

•

oedème facial

•

en:face edema

•

oedème du visage

•

oedème de la face

•

omphalocèle

•

en:omphalocele

•

hernie ombilicale congénitale

•

hernie ombilicale

•

exomphale congénitale

•

exomphale

•

omphalocèles

•

en:umbilical hernia

•

hernies ombilicales

•

atrophie

•

en:atrophy

•

en:fasciculation

•

en:muscular fasciculation

•

secousse musculaire

•

en:twitching

•

en:muscle twitch

•

contraction clonique

•

fasciculation d'un muscle squelettique

•

en:cytochrome-c oxidase deficiency

•

déficit en cytochrome oxydase

•

oedème

•

œdème

•

déficit en cytochrome-c oxydase

•

en:general paresis

•

en:edema

•

en:hypotonia

•

Oedème

•

lipome

•

hypotonie

•

en:Umbilical hernia

•

en:lipoma

•

Autophagosome

•

autophagosome

•

en:dysphagia

•

dysphagie

•

spasme carpopédal

•

parésié

•

en:carpopedal spasm

•

dysphagia

•

en:broad-based gait

•

spasme carpo-pédal

•

élargissement du polygone de sustentation

•

en:wide-based gait

•

hypertrophie staturale avec macroglossie et omphalocèle

•

Exomphale

•

bosse de bison

•

empâtement de la nuque et du cou

•

en:neonatal hypotonia

•

en:buffalo hump

•

hypotonie du nouveau-né

•

cou de bison

•

en:macroglossia

•

en:oedema

•

en:syphilitic meningoencephalitis

•

hypotonie, obésité et incisives proéminentes

•

fatigue musculaire

•

en:feebleness

•

hypotonie musculaire

•

en:muscle fatigue

•

polymyosite

•

en:lack of adipose tissue on limbs and femorogluteal regions

•

remaniement nécrotique

•

en:head drop due to neck muscle weakness

•

en:rhabdomyolysis

•

en:rimmed vacuoles

•

en:hypotonia, infantile, severe

•

en:defective glycosylation of alpha-dystroglycan seen on biopsy

•

en:adrenal cytomegaly

•

macroglossie

•

en:muscular dystrophy (in some patients)

•

en:tubular aggregates (in some patients)

•

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

•

en:myalgia with febrile episodes (rare)

•

en:polymyositis

•

en:distal lower limb muscle weakness

•

en:atrophy of upper girdle muscles

•

en:lower limb muscle hypotrophy

•

en:proximal muscle weakness (in some patients)

•

en:thickening of fascia of forearm

•

rhabdomyolyse

•

en:facial edema

•

hypertonie

•

en:general paralysis

•

en:muscular weakness

•

hypothyroïdie (manifestations neuromusculaires dans l')

•

en:dystrophic features and atrophic fibers seen on muscle biopsy

•

en:easy fatigability with exercise

•

en:anasarca

•

en:atrophy, neurogenic muscular

•

en:necrotic change

•

en:variability in fiber size

•

en:axial muscle weakness

•

en:weak extraocular muscles

•

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

•

en:proximal muscles may be mildly affected

•

en:muscle atrophy, diffuse, severe

•

en:proximal muscle weakness (120270.0002)

•

ophtalmoplégie, hypotonie, ataxie, hypoacousie et athétose

•

en:ombilical hernia

•

Hypotonie musculaire

•

en:gigantism and hyperplastic visceromegaly

•

en:lipid accumulation in muscle tissue

•

en:ankle reflex absent

•

en:muscle weakness, severe, axial and proximal predominance

•

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

•

en:hypotonia, mild (1 patient)

•

en:hypertonia

•

en:decreased activity of mitochondrial complex i

•

en:type 1 fiber predominance seen on muscle biopsy

•

en:autophagosome

•

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

•

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

•

en:gait disturbance

•

atrophie musculaire neurogène

•

atrophie musculaire neurogénique

•

lymphangiectasie

•

en:macies

•

en:enteroviral dermatomyositis syndrome

•

en:secondary loss of merosin and desmin

•

en:impaired mitochondrial respiration

•

en:biceps aplasia

•

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

•

en:fat pads on the hands and feet

•

en:muscle hypertrophy in affected area

•

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

•

en:myopathy (in some patients)

•

en:degrading mitochondria

•

en:muscle paralysis, episodic

•

en:muscle weakness, limb-girdle, mild

•

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

•

en:muscle weakness, episodic

•

en:paracrystalline inclusions

•

en:skeletal muscle damage

•

en:minicores or core-like regions may be present

•

en:small endplate

•

en:ascending muscle weakness (beginning with feet and legs)

•

en:muscle biopsy shows sarcoplasmic rods in myofibers

•

en:type 2 fiber atrophy see on biopsy

•

en:progressive proximal muscle involvement

•

en:ubiquinone decreased

•

en:hyporeflexia

•

œdème de la face

•

en:hypoplasia of latissimus dorsi muscle

•

en:thenar eminence hypoplasia

•

en:low maximum workload on exercise testing

•

en:muscle weakness, primarily proximal

•

en:axial weakness

•

en:predominantly lower limb lymphedema

•

en:mitochondrial myopathy

•

en:necrotic process

•

en:progressive muscle weakness

•

en:evidence of lymphatic rerouting

•

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

•

en:muscle biopsy shows peripheral accumulation of abnormal mitochondria

•

en:benign soft tissue developmental anomalies

•

en:mild distal muscle atrophy

•

en:increased focal mitochondrial density

•

en:enlarged terminal cisternae of the sarcoplasmic reticulum

•

en:hypotonia, severe, neonatal

•

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

•

en:myopathic changes seen muscle biopsy

•

en:axial muscle hyperextension, episodic

•

en:calf and thigh cramping muscle pains

•

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

•

en:calf muscle hypoplasia

•

en:muscle biopsy shows decreased glycosylation of alpha-dystroglycan

•

en:secondary myopathic changes

•

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

•

en:sarcoplasmic accumulation of electron-dense granulofilamentous material

•

en:mitochondrial vacuolization seen on muscle biopsy

•

en:distal muscle weakness, predominantly lower limbs

•

en:increased glycogen in muscle

•

en:knee and hip flexor weakness due to peripheral neuropathy

•

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

•

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

•

en:small rounded fibers

•

en:arm/shoulder muscle hypoplasia

•

en:atrophia

•

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

•

en:ragged red fibers (in some patients)

•

en:type 2 fiber predominance

•

en:muscle biopsy shows atrophy

•

en:amyotrophy, neurogenic

•

en:fiber-type variability

•

en:tubular aggregates seen on biopsy

•

en:focal lymphocytic and macrophage infiltrates on biopsy

•

fasciculation musculaire

•

en:plantar fibromatosis

•

en:gait, drop foot

•

myopathie myofibrillaire

•

en:muscle biopsy shows neurogenic atrophy affecting both fibers types

•

en:weakness of neck extensors (rare)

•

en:scapuloperoneal weakness

•

en:rigidity (uncommon)

•

en:disruption plasma membrane (in some patients)

•

en:hematomas, recurrent large subcutaneous

•

en:poor head control

•

en:myopathy with abnormal lipid metabolism

•

en:hand muscle atrophy

•

en:unable to walk

•

en:centrally located nuclei seen on muscle biopsy

•

en:dystrophic features seen on muscle biopsy

•

en:buffalo hump (rare)

•

en:adhalin deficiency seen on muscle biopsy

•

en:decreased muscle mass (predominantly in lower extremities)

•

en:many fibers with internal nuclei

•

en:biopsy shows myopathic and dystrophic changes

•

en:subcutaneous edema

•

en:extensive fatty infiltration on biopsy

•

en:fiber type variation seen on biopsy

•

en:muscle weakness, distal more than proximal

•

en:neurogenic changes

•

en:muscle weakness, hypokalemia-related

•

en:prominent veins, lower limbs

•

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

•

en:fat accumulation in the suprabuttock area

•

en:muscle weakness, mainly proximal and axial

•

en:increased fiber size variability

•

en:relative sparing of the rectus femoris

•

en:reduced subcutaneous adipose tissue

•

en:paralytic dementia

•

en:exomphalos

•

en:slim, muscular build (in some patients)

•

en:atrophy, mild (in some cases)

•

en:difficulty walking up stairs

•

en:central nuclei

•

en:congophilic eosinophilic inclusions

•

en:lack of integrin alpha-7 staining

•

en:absence of some scapular muscles (less common)

•

en:distal muscular atrophy due to peripheral neuropathy

•

en:easy fatigue

•

en:decreased muscle mass (especially of limbs)

•

en:disorganized myofilaments seen on muscle biopsy

•

en:necrotic and atrophic fibers with centralized nuclei

•

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

•

en:hypoactive gag reflex

•

en:increased connective tissue (in some patients)

•

en:filamentous inclusions in muscle fibers

•

en:scapular muscle atrophy

•

en:upper and/or lower limbs may be affected

•

en:marked variability of fiber size

•

en:neuropathic process seen on muscle biopsy

•

en:stiffness (uncommon)

•

en:pelvic girdle muscle atrophy

•

en:limb muscle weakness and atrophy, distal, neurogenic

•

en:weakness of all intrinsic hand muscles (later)

•

en:tubular aggregates mainly in type 1 fibers

•

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

•

en:abnormal fat distribution

•

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

•

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

•

en:subsarcolemmal mitochondrial aggregates

•

en:pelvic girdle weakness

•

en:lymphangiectasia

•

en:proximal myopathy

•

en:hyporeflexia of lower limbs

•

en:myokymia

•

en:difficulty running and jumping

•

en:abnormal mitochondria with paracrystalline inclusions seen on muscle biopsy

•

en:impaired heel-walking

•

en:lipid and glycogen accumulation

•

en:generalized weakness (adult-onset)

•

en:hypertonicity (uncommon)

•

en:myalgia

•

en:muscle biopsy shows mitochondrial aggregates

•

en:muscle weakness and atrophy

•

en:muscle biopsy shows hypoglycosylation of alpha-dystroglycan

•

en:nemaline rods (rare)

•

en:type 1 fiber atrophy seen on muscle biopsy

•

en:axial hypotonia (in some patients)

•

en:sarcomere disappearance seen on muscle biopsy

•

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

•

en:muscle fibers contain internal nuclei

•

en:giant granules in muscle cells

•

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

•

en:peroneal muscle weakness and atrophy due to peripheral neuropathy

•

en:jitter

•

en:muscle weakness (in 90% of patients)

•

en:muscle atrophy (1 patient)

•

en:abnormal sarcoplasmic reticulum elements

•

en:loss of sarcomeric striations

•

en:lymphedema of lower limbs (in some patients)

•

en:minicores (in some)

•

en:muscle amyotrophy

•

en:relative muscle weakness, especially in pelvic girdle

•

en:deficiency of mitochondrial respiratory enzymes seen on muscle biopsy

•

en:small or absent axon terminals

•

en:muscle biopsy shows cytochrome c oxidase-negative fibers

•

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

•

en:relative sparing of the tibialis anterior

•

en:hang weakness

•

en:limb lymphedema (in some patients)

•

en:muscle atrophy, mild

•

en:abnormal mitochondrial proliferation

•

en:muscle weakness and atrophy, distal

•

en:increased centralized nuclei

•

en:triceps aplasia

•

en:muscle biopsy shows nemaline rods

•

myokymie

•

incapable de marcher

•

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

•

en:redundancy of basal lamina with accumulated debris

•

en:proximal muscle weakness, limb-girdle distribution

•

en:subsarcolemmal lipofuscin-positive deposits

•

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

•

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

•

en:fibrillation

•

en:myasthenias

•

en:myofibrillar myopathy

•

en:muscular hypotonia of the trunk

•

fibrillation

•

en:deafferentation

•

en:polyglucosan accumulation

•

en:denervation of skeletal muscles

•

en:central cores seen on muscle biopsy

•

en:exercise-induced myalgia

•

en:internal nuclei seen on muscle biopsy

•

en:painful swelling in aponeuroses

•

en:decreased activities of several mitochondrial respiratory enzymes

•

en:recovery between attacks

•

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

•

en:increased muscle tone at birth

•

en:wide variation in fiber size

•

en:decreased density of calcium release units

•

en:decreased mitochondrial respiratory activities (in some patients)

•

en:lymphoscintigraphy shows impaired lymphatic uptake and drainage

•

en:distal limb muscle atrophy, lower more than upper

•

en:impaired toe-walking

•

en:mild atrophy of the proximal lower limbs

•

en:atrophy of type 1 and type 2 fibers

•

en:muscle weakness due to peripheral neuropathy

•

en:muscle biopsy shows atrophic fibers

•

en:myopathic changes seen on biopsy

•

en:enlarged nuclei with central pallor

•

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

•

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

•

en:edematous hands and feet (1 patient)

•

en:loss of subcutaneous fat, particularly affecting the limbs

•

en:tortuous lymphatic tracts

•

en:accumulation of abnormal mitochondria

•

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

•

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

•

en:distal limb atrophy (upper and lower)

•

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

•

en:rare necrotic fibers

•

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

•

myotonie

•

myalgie

•

Hypertonie

•

Paralysie générale

•

en:fatty infiltration seen on muscle biopsy

•

en:muscle biopsy shows grouped atrophy

•

en:numerous vacuole-like areas

•

en:atrophic muscle fibers

•

en:hypoplasia of muscle

•

en:difficulty standing

•

en:decreased exercise tolerance

•

en:leg edema

•

en:abnormal subcutaneous fat tissue distribution

•

en:myofibromatosis

•

en:angular atrophic fibers

•

en:dystrophic changes, mild, seen on muscle biopsy

•

en:facial muscle atrophy of involved side

•

en:fragmented mitochondrial network

•

en:hypertonicity of the lower limbs

•

en:distal limb muscle weakness, lower more than upper

•

en:muscle aches, cramps

•

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

•

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

•

en:ragged red fibers seen on biopsy

•

en:nonspecific myopathic changes

•

en:tremor of the upper limb

•

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

•

en:chronic denervation seen on skeletal muscle biopsy

•

en:global muscle weakness

•

en:inclusions form a lobulated structure seen on electron microscopy

•

en:exertional leg pain

•

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

•

en:lower limbs more often affected

•

en:lower and upper limbs affected

•

en:distal muscle atrophy, predominantly affecting the lower limbs

•

en:loss of ambulation (in some patients)

•

en:abnormal axons with sprouting and swelling

•

en:generalized muscle contractions, episodic

•

en:weakness of the anterior tibial muscle and toe extensors

•

en:loss of lower-limb tendon reflexes

•

en:limb weakness, proximal followed by distal

•

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

•

en:nemaline myopathy (in 1 reported male)

•

en:protein aggregates resembling myofibrillar myopathy may be present

•

en:myosin storage myopathy (in some patients)

•

en:mildly decreased cytochrome c oxidase activity

•

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

•

en:reduced lower limb subcutaneous fat

•

en:vacuoles containing neutral lipids seen on muscle biopsy

•

en:subcutaneous fat markedly reduced

•

jitter

•

fibromyalgie

•

en:hematomphalus

•

en:aggregates contain granular electron-dense material

•

en:glycogen accumulation seen on biopsy

•

tirant d'un coup sec

•

en:enlarged vesicles of sarcoplasmic reticulum origin

•

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

•

en:hypotonia, generalized (in some patients)

•

en:proximal muscle weakness

•

en:muscular rigidity

•

en:muscle hypertrophy

•

en:generalized hypotonia

•

fasciculation

•

en:abnormal fiber size variation seen on muscle biopsy

•

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

•

en:exercise capacity decreased

•

en:difficulty raising arms

•

en:biopsy muscle normal

•

en:calf hypertrophy (in some patients)

•

en:increased mitochondria seen on muscle biopsy

•

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

•

en:bilateral foot drop

•

en:muscle fiber splitting (in some patients)

•

en:biopsy shows myopathy without vacuoles

•

en:wrist swelling

•

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

•

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

•

en:predominance of oxidative fibers

•

en:myopathic features seen on biopsy

•

en:fiber-type grouping pattern

•

en:protein aggregates immunopositive for actin and desmin

•

en:no myofibrillar abnormalities or protein aggregation

•

en:muscle strength and bulk is preserved

•

en:muscle weakness, symmetric, proximal, lower limbs

•

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

•

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

•

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

•

en:decreased muscle mass, especially distally

•

en:muscle pain after exercise

•

en:muscle wasting, severe, primarily in the legs

•

en:toe and foot dorsiflexor weakness

•

en:increased fat and fibrous tissue

•

en:thick palmar fascia

•

en:myogenic profile on electromyography

•

en:poor sarcomeric structure (in some patients)

•

en:water thesaurismosis

•

en:shoulder girdle muscle weakness and atrophy, progressive

•

en:signs of denervation seen on biopsy

•

en:muscle weakness, severe

•

en:lipoatrophic appearance

•

en:presynaptic defect at the neuromuscular junction

•

en:disruption of the sarcolemmal membrane seen on muscle biopsy

•

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

•

en:muscle weakness, distal (in some patients)

•

en:poor muscle mass

•

en:mild decrease in mitochondrial respiratory chain activity

•

en:toe-walking gait

•

en:exumbilication

•

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

•

en:muscular hypotonia

•

en:decreased postsynaptic folding at the neuromuscular junction

•

en:ring fibers

•

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

•

en:cox-negative fibers seen on muscle biopsy

•

en:percussion myotonias

•

en:severe muscular hypotonia

•

en:ascites (in some patients)

•

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

•

en:chronic weakness

•

en:muscle atrophy, severe

•

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

•

en:contractures of upper limbs (in some patients)

•

en:distal myopathy (in 1 family)

•

en:distal muscle atrophy, predominantly lower limbs

•

en:distal muscle weakness, predominantly affecting the lower limbs

•

en:infantile axial hypotonia

•

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

•

en:increased variability of fiber size seen on muscle biopsy

•

en:quadriceps aplasia

•

en:multiple mitochondrial respiratory enzymes deficiencies seen on biopsy

•

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

•

en:proximal muscle atrophy (in some patients)

•

en:increased mitochondria with rare paracrystalline inclusions

•

en:muscle fatigability

•

en:muscle wasting (especially legs and arms)

•

en:muscle atrophy (in some patients)

•

en:muscle weakness and atrophy, progressive

•

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

•

en:hypoglycosylation of alpha-dystroglycan

•

en:limb-girdle muscle weakness (2 families)

•

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

•

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

•

en:replacement of myofibers with connective tissue

•

en:myoclonic spasms

•

en:muscle atrophy, primarily in the legs

•

en:gowers sign (in some patients)

•

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

•

en:small, angulated muscle fibers seen on muscle biopsy

•

en:increased mitochondria with abnormal cristae

•

en:muscle weakness (1 patient)

•

en:structurally abnormal mitochondria

•

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

•

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

•

en:increased lipid

•

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

•

en:necrosis and degeneration seen on muscle biopsy

•

en:clumsiness

•

en:peroneal muscle weakness

•

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

•

en:increased endomysial fibrosis

•

en:glycogen deficiency in muscle fibers

•

en:distal muscle atrophy (1 patient)

•

en:areflexia of lower limbs

•

en:gait unsteady

•

en:edema limbs

•

en:fasciculations (in some patients)

•

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

•

en:loss of subcutaneous and visceral adipose tissue, mild

•

en:accumulated lipid droplets seen on muscle biopsy

•

en:rhabdomyolysis (in some patients)

•

en:secondary hypertrophy

•

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

•

en:tubular aggregates seen on muscle biopsy

•

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

•

en:contractures of distal lower limbs

•

en:distal lower limb anterior compartment weakness

•

en:swelling of the hands and feet, episodic

•

en:muscle weakness may affect upper limbs

•

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

•

en:normal phosphorylase kinase activity in muscle

•

en:lipid droplets seen on muscle biopsy

•

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

•

en:defects in lipoate-containing mitochondrial enzyme complexes

•

en:acute rhabdomyolysis

•

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

•

en:distal muscle wasting, mild

•

en:generalized muscle weakness also seen in symptomatic carrier females

•

en:increased intermyofibrillar and subsarcolemmal glycogen

•

en:proximal muscle weakness, lower limbs, mild

•

en:nonspecific myopathic changes seen on biopsy

•

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

•

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

•

en:wasted lower leg muscles

•

en:nemaline bodies

•

en:proximal muscle weakness, less severe

•

en:skeletal muscle weakness

•

en:proximal muscles more often affected

•

en:symmetrical muscle wasting

•

en:increased muscle tone (early in life)

•

en:variable deficiencies of mitochondrial respiratory chain enzymes

•

en:myositis (in some patients)

•

désafférentation

•

en:megaloglossia

•

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

•

en:calf muscle enlargement

•

en:myotonia (delayed muscle relaxation after contraction)

•

en:generalized muscle hypertrophy

•

en:berardinelli-seip congenital lipodystrophy

•

en:myopathy, mild

•

en:congenital fiber-type disproportion

•

en:myotonia

•

en:alimentary edema

•

en:neonatal hypertonias

•

en:floppy infant

•

en:neck muscle weakness

•

en:abnormal mitochondrial morphology

•

en:decreased activity of cytochrome c oxidase (in most cases)

•

en:distal amyotrophy (hands and feet)

•

en:fibrous dysplasia (rare)

•

en:fibromyalgia

•

en:fatty deposition

•

en:muscle biopsy shows lipid droplets

•

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

•

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

•

en:limb muscular atrophy

•

en:multi-core congenital myopathy

•

en:muscle weakness, severe, proximal and distal

•

en:muscle weakness following prolonged exercise

•

en:inability to sit or hold head up

•

en:muscle pain and cramping on exertion

•

en:atrophy of shins

•

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

•

en:mitochondrial swelling

•

en:enfeeblement of muscle

•

en:obesity

•

en:lymphangiectasis

•

en:and proeminent incisors

•

Lipome

•

en:supraclavicular fat pads

•

en:ophthalmoplegia

•

en:umbilical hiatus

•

palpitation

•

Rhabdomyolyse

•

anasarque

•

Myalgie

•

hypotrichose avec anodontie et anhidrose de Touraine

•

en:myodynia

•

hypotrichose congénitale simple

•

en:myosalgia

•

en:mass reflex

•

en:congenital atrophy of thyroid

•

en:congenital hypothyroidism

•

en:medullary automatic defence reflex

•

en:neonatal hypothyroidism

•

obésité

•

Anasarque

•

hypotrichose congénitale des cils

•

hypotonie plasmatique

•

hypotrichose héréditaire de Marie Unna

•

hypothyroïdie congénitale

•

hypotrichose, atrophodermie folliculaire et épithéliomatose

•

hyperthyroïdie (manifestations neuromusculaires dans l')

•

hypothyroïdie néonatale

•

hypothyroïdie et psychisme

•

automatisme médullaire (réflexe d')

•

hypotonie vésicale

•

hypotonique

•

hypotonie sphinctérienne uréthrale

•

hypotonie sphinctérienne anale

•

hypotrichose

•

hypotonie utérine

•

myasthénie

•

polyneuropathie, ophtalmoplégie, leucoencéphalopathie et pseudo-obstruction intestinale

•

en:ataxia

•

en:hypacusis and athetosis

•

en:hypothyroidism and psychism

•

macrosomie, obésité, macrocéphalie et anomalies oculaires

•

en:hypotrichosis

•

en:hypothyreosis

•

en:plasma hypotonia

•

en:hypotonic

•

syndrome de Treft-Sanborn-Carey

•

Parésie

•

Atrophie

•

Dysphagie

•

Fibromyalgie

•

Hypotonie

•

Macroglossie

•

Palpitation

•

en:sphincteric hypotony

•

réflexe en masse

•

myotonia

•

en:hydrops fetalis

•

Obésité

•

en:anal sphincter hypotonia

•

MOMO (syndrome)

•

en:uterine hypotonia

•

en:adipose wen

•

en:bladder hypotonia

•

en:fibrillar twitching

•

sautillement

•

en:myasthenia

•

Jewett-Strong-Marshall (classification de)

•

omovertébral (os)

•

polymorphisme (taux de)

•

Spanlang-Tappeiner (syndrome de)

•

oedémateux (syndrome)

•

Hernie ombilicale

•

paralysie du muscle oblique supérieur (du globe oculaire)

•

en:muscle pain

•

en:fatty tumor

•

DES (syndrome du)

•

inertie utérine

•

atonie de l'utérus

•

en:desafferentation

•

hernie diaphragmatique, exomphalocèle, absence de corps calleux, hypertélorisme, myopie et surdité neurosensorielle

•

en:hypotrichosis congenita simplex

•

en:congenital eyelashes hypotrichosis

•

en:fatty tumour

•

en:hypotrichosis-anodontic syndrome

•

atrophie congénitale de la thyroïde

•

Mya (maladie de)

•

Palmer (manoeuvre de)

•

crétinismes

•

hypothyroïdisme congénital

•

infantilisme type brissaud

•

en:congenital goiter

•

goitre congénital

•

syndrome d'insuffisance thyroïdienne congénitale

•

nanisme hypothyroïdien

•

Faiblesse musculaire

•

hypertrichose lanugineuse acquise

•

hypertrichose congénitale des cils

•

autonomisation du patient

•

hypertrichose lanugineuse congénitale

•

hypertrichose nævoïde

•

hypertrichose-atrophie cutanée-ectropion et macrostomie

•

hypertrichosis universalis congenita

•

hypertriglycéridémie

•

hyperthyroïdie et psychisme

•

automatisme mental

•

automatisme psychique

•

automédication

•

automutilation

•

autonomisation de la pointe du nez

•

autophagique

•

autophagocytose

•

Hypotonique

◀

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

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=7119644 • caches: c1=6 c2=710 c3=709

+/-

♥

po

la

ti

le

as

ku

co

lo

to

ta

ta

xe

po

li

?!

!?

[Vider le cache]