[Emery-Dreifuss muscular dystrophy--reported a family with 5 cases].
Five cases of Emery-Dreifuss muscular dystrophy in four generations of a family was reported. It is a rare form X-linked recessive muscular dystrophy. The distinctive features of this disease are: Firstly, early contractures of elbows and achilles tendons and posterior cervical muscles are revealed. Secondly, muscle weakness is more proximal (scapulo-humeral) in the upper limbs and distal (anterior tibial and peroneal muscle) in the lower limbs. Thirdly, there is no calf pseudohypertrophy. Fourthly, myocardial involvement with cardiac conduction defects is frequent and important features. The CPK level is usually slightly raised. In our report, the EMG and muscle biopsies showed a mixed pattern of neurogenic and myogenic changes.
Luo
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Dept of Neurology, First Affiliated Hospital, West China University of Medical Sciences, Chengdu, Sichuan.
D000328:Adult; D003286:Contracture / Q000175:diagnosis; D005260:Female; D006327:Heart Block / Q000175:diagnosis; D006801:Humans; D008297:Male; D009136:Muscular Dystrophies / Q000175:diagnosis* / Q000235:genetics; D020389:Muscular Dystrophy, Emery-Dreifuss; D010375:Pedigree; D013577:Syndrome