Emery-Dreifuss muscular dystrophy.
A man had weakness of humeroperoneal distribution associated with limited range of motion of the cervical spine and elbows. At age 25 he developed permanent atrial paralysis, and a cardiac pacemaker was inserted. Although this case was sporadic, most others have been transmitted as an X-linked recessive trait. Mixed patterns in electromyography and muscle histology have caused nosological confusion, but the unique clinical signs seem to define a distinct form of muscular dystrophy, warranting the designation "emery-Dreifuss" type.
D000328:Adult; D004576:Electromyography; D006801:Humans; D008297:Male; D009132:Muscles / Q000201:enzymology / Q000473:pathology / Q000503:physiopathology; D009136:Muscular Dystrophies / Q000175:diagnosis* / Q000201:enzymology / Q000473:pathology / Q000503:physiopathology; D020389:Muscular Dystrophy, Emery-Dreifuss; D013577:Syndrome