Diko : en:thenar eminence hypoplasia

en:thenar eminence hypoplasia

Catégories

Nom

Informations lexicales

Langue:anglais

Liens externes

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umls:C3807663

Associations d'idées

[F]

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50+

en:shortening of various muscle-tendon groups in feet

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en:poor sarcomeric structure (in some patients)

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

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en:absence of telethonin protein

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

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en:emg in myotonia permanens shows continuous myotonic activity

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en:lack of facial subcutaneous fat

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en:loose connective tissue

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en:muscle biopsy shows nemaline rods

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en:pyruvate oxidation defect

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en:combined oxidative phosphorylation deficiency, complexes i and iv

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en:emg shows neurogenic changes consistent with denervation

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en:facial muscle atrophy of involved side

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en:increased adipose fibrosis

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en:increased connective tissue and fat in muscles

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en:myopathic pattern on emg

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en:redundancy of basal lamina with accumulated debris

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en:muscle strength and bulk is preserved

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en:amorphous granulofilamentous material associated with z-discs

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en:angulated atrophic fibers

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en:biopsy muscle normal

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en:frontalis muscle weakness

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en:low muscle mass

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en:edematous hands and feet (1 patient)

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en:usually no myopathic changes on biopsy

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en:increased endo- and perimysial connective tissue

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

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en:muscle atrophy appears later in disease course

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en:muscle cramps, painful, recurrent

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en:proximal lower limb amyotrophy

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en:atrophic calf muscles

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en:attacks precipitated by cold temperature

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en:disruption of sarcomeres with disorganization of the z band

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

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en:paralysis of the lower limbs (later)

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

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en:abnormal aggregation of mitochondria

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en:enlarged vesicles of sarcoplasmic reticulum origin

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en:quadriceps weakness

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

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en:skeletal myopathy

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

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en:pain or cramping during sustained manual activity

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

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en:neurogenic changes seen on emg

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en:exercise intolerance (cvs+)

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en:pelvic girdle weakness

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

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en:hyporeflexia

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en:increased lipid droplets and abnormal mitochondria

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50+

faiblesse de muscle

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en:muscle weakness

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faiblesse du muscle

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en:paresis

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faiblesse musculaire

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parésie musculaire

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parésie

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paralysie générale

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en:face edema

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oedème facial

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oedème de la face

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oedème du visage

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atrophie

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en:atrophy

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oedème

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en:edema

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Oedème

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secousse musculaire

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en:twitching

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en:muscle twitch

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contraction clonique

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fasciculation d'un muscle squelettique

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en:fasciculation

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en:muscular fasciculation

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en:cytochrome-c oxidase deficiency

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déficit en cytochrome oxydase

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œdème

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déficit en cytochrome-c oxydase

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en:general paresis

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lipome

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en:lipoma

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Autophagosome

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autophagosome

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parésié

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spasme carpopédal

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spasme carpo-pédal

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en:carpopedal spasm

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en:neonatal hypotonia

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hypotonie du nouveau-né

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bosse de bison

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dysphagia

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en:dysphagia

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dysphagie

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en:syphilitic meningoencephalitis

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empâtement de la nuque et du cou

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en:buffalo hump

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cou de bison

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en:fibrillation

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fatigue musculaire

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hypotonie musculaire

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

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=7119049 • caches: c1=162 c2=1086 c3=3143

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