Alternate Name:
Test:
Muscle biopsy (AB), intrauterine chorionic villassampling. (AB), U.creatinine (H), S.CPK (H), S.AST (H), S.aldolase (H), electromyelography (AB)
Sign:
Peripheral reflexes, muscular atrophy, claw hand,fasciculation, hypotonia, flaccid paralysis, waddling gait, wrist drop, "Gower's manoeuvre
Dd:
Orthopaedic anomalies, neurogenic diseases, polio, cretinism, gonadal disorders, Charcot-Marie-Tooth disease, polyneuritis
Phys:
Inherited myopathies characterised by progressive, severe, muscular weakness. Many differeht subgroups
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