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

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

Catégories

Nom

Informations lexicales

Langue:anglais

Liens externes

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umls:C4228456

Associations d'idées

[F]

›

50+

en:wide variation in fiber size

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

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en:type 1 fiber atrophy

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

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en:distal muscle atrophy due to denervation

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en:generalized muscle contractions, episodic

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en:myopathic changes seen on biopsy

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en:proximal and distal muscle atrophy

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en:hypotonia, mild (1 patient)

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en:weakness of the muscles in the anterior compartment of the lower leg (particularly the tibialis anterior muscle)

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en:distal lower limb muscle weakness and atrophy

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

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en:fibrous dysplasia (rare)

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en:inability to run

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en:muscle stiffness or aching

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

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

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en:hamstring muscle affected

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en:minipolymyoclonus

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en:macroglossia

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en:lipid accumulation in muscle tissue

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en:abnormal subcutaneous fat tissue distribution

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en:fibrillation

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en:fat pad between achilles tendon and medial malleolus

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

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en:muscle fiber necrosis

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en:muscle cramps affect the upper and lower limbs

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

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en:myotonia seen on emg

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en:muscle hypertrophy may occur

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en:small nerve terminals

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en:pectoralis hypoplasia

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

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en:necrotic muscle fibers

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en:increased number of small endplates

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en:exertional leg pain

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

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en:prolonged miniature endplate currents

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en:progressive proximal muscle weakness

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en:decreased activities of several mitochondrial respiratory enzymes

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en:generalized muscle weakness, severe

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en:granular deposits in the sarcomeres

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en:muscle activity is electrically silent on emg

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en:muscle biopsy shows type i fiber predominance

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en:muscle stiffness (in older patients)

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en:nemaline bodies

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en:absence of myotonia in infancy (congenital form)

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en:prolonged endplate currents

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en:myasthenias

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en:central cores seen on muscle biopsy

▶

‹

50+

en:variation in fibrodiameter seen on muscle biopsy

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en:red-ragged fibers (2p21del)

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en:superior rectus atrophy

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en:muscle weakness after cooling or on warming affected muscle

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en:slowly progressive limb-girdle myopathy

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en:hypoplasia of cervical paravertebral muscles

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hypoplasie glutéale

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

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

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en:soft tissue vascular malformations

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en:muscle biopsy shows type 2 fiber atrophy

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en:decreased ability to run

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

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en:decreased distal reflexes

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en:focal loss of cross striations seen on muscle biopsy

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en:amyotrophy, distal, upper and lower limbs

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en:decreased immunostaining for alpha-sarcoglycan

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en:abnormal aggregation of mitochondria

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en:loss of subcutaneous fat, generalized

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en:gluteal hypoplasia

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

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en:decremental compound muscle action potential on repetitive stimulation

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en:muscle biopsy shows loss of myofibrillar organization

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œdème

•

oedème

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en:eosinophilic inclusions

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en:rectus medial atrophy

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en:no muscle fiber necrosis

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en:degenerating fibers

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en:abnormal mitochondria in skeletal muscle biopsy

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

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en:calf muscle hypertrophy

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en:progressive ectopic ossification (neck, dorsal trunk, proximal limbs, sternocleidomastoid, masseters)

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en:muscle weakness, distal, particularly affecting the hands

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en:absence of necrosis

•

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

•

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

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en:progressive distal muscle weakness

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

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en:decreased mitochondria

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en:hypotonia, profound

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en:prominent involvement of the quadriceps femoris muscles

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en:muscle biopsy shows necrotic and regenerating fibers

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en:hypoplasia of the hand muscles (29%)

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en:fiber size variation

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en:congophilic staining

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en:disorganization of the myofibrillar pattern

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en:gluteus maximus and thigh adductors most affected

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en:increased glycogen

•

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

▶

Génériques

[F] [H]

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en:absence ▷?

•

en:absence of

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

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=9094171 • caches: c1=8 c2=104 c3=1857

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