Diko : en:hypotonia from birth to age 12

en:hypotonia from birth to age 12

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Informations lexicales

Langue:anglais

Informations sémantiques

source:wiki

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umls:C4230961

Associations d'idées

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50+

âge ▷

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en:hypotonia

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en:fiber size variation seen on muscle biopsy

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en:pain or cramping during sustained manual activity

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en:muscle atrophy (variable)

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en:calf pseudohypertrophy rare

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en:muscle weakness, upper and lower limbs

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en:onset of weakness in hands and feet

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en:increased central nucleation

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en:muscle atrophy later in the disease

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en:muscles become hard and tender during exercise

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en:muscle atrophy, mild, more proximal than distal

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en:myopathy, nonprogressive

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en:no dystrophic changes

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en:hypoplasia of supraspinatus muscle

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en:muscle biopsy may show inflammatory changes

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en:increased muscle lipid content

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en:muscle biopsy shows rimmed vacuoles

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en:muscle biopsy shows increased variation in fiber size

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en:muscle atrophy appears later in disease course

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en:absence of telethonin protein

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en:muscle biopsy shows degenerating endplates and junctional folds

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en:limb muscle weakness, proximal, upper and lower

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en:electromyographic decrements in some muscles

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en:muscle cramps, painful, recurrent

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en:muscle biopsy shows glycogen accumulation in myofibrils and lysosomes

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en:poor exercise tolerance

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en:other mitochondrial complex enzyme activities may also be decreased

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en:difficulty rising from chair

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en:muscle biopsy shows variation in fiber size

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en:muscle biopsy shows intranuclear tubulofilamentous inclusions

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en:hypotonia (2 patients)

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en:normal or increased facial and neck adipose tissue

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en:enlarged mitochondria

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en:loss of truncal subcutaneous adipose tissue

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en:myopathy (rare)

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

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en:red-ragged fibers (2p21del)

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en:progression to wheelchair in fourth decade

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en:poor muscle bulk

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

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en:progressive distal muscle weakness

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en:potassium sensitivity has been reported

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en:nemaline bodies are rarely intranuclear

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en:myofibrillar disintegration

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en:muscle pain with exercise (in older patients)

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en:proximal muscle weakness (85% of patients)

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en:muscle fibers appear as fetal myotubules

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en:primarily affects lower limbs

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en:pseudoathletic appearance with prominent muscles before disease onset

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50+

hypoplasie glutéale

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en:gluteal hypoplasia

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en:proximal muscle weakness (occasional)

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en:exercise intolerance (less common)

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en:normal neonatal period may occur before weakness is apparent

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en:generalized neonatal hypotonia

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en:thenar amyotrophy (rare)

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en:disorganization of the neuromuscular junction

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en:dystrophic changes on biopsy

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en:partial lipodystrophy (abnormal distribution of adipose tissue)

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en:subsarcolemmal mitochondrial accumulation

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en:mitochondrial paracrystalline inclusion bodies

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en:exercise-induced muscle fatigue

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en:normal dystrophin immunostaining

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en:sparing of the anterior tibial compartment

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en:calf muscle discomfort

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en:decreased immunostaining for alpha-sarcoglycan

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en:increased numbers of type 1 fibers

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

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

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en:rectus abdominis muscle separation

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en:decreased muscle action potential after warming affected muscle

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en:muscle stiffness or aching

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en:muscle biopsy shows no dystrophic changes

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en:angular fibers (in some patients)

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en:minimal muscle mass

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en:myofibrillar disintegration

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en:respiratory distress (congenital form)

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

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

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en:decreased muscle mitochondrial aconitase

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en:fat pad anterior to malleolus

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en:muscle mounding

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en:interfibrillar and subsarcolemmal vacuoles

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en:skeletal muscle shows decreased sarcoglycan proteins

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

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en:muscle weakness is not a feature

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en:myopathic findings on biopsy have been occasionally reported

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en:small and incompletely fused muscle fibers seen on biopsy

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en:hip girdle muscle weakness (usually presenting symptom)

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en:weakness of anterior compartment tibial muscles

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en:hyaline plaques with absent oxidative activity

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en:fatty infiltration of affected muscles

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en:decreased muscle mass

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en:decreased muscle bulk

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en:absence of caveolin-3 staining

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en:muscle atrophy (variable)

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en:distal muscle weakness occurs later

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en:weakness of neck muscles may occur later

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en:eosinophilic inclusions

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Génériques

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en:hypotonia

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

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=9094254 • caches: c1=104 c2=466 c3=2164

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