Emery-Dreifuss muscular dystrophy with autosomal dominant transmission.
A woman with early-onset, slowly progressive, humeroperoneal muscle weakness had marked restriction of neck flexion with contracture at the elbows. She developed exertional dyspnea at age 25, atrial fibrillation with slow ventricular rate was discovered, and a cardiac pacemaker was implanted. Her father had a similar disorder. There is at least one other report of autosomal dominant transmission of this clinical picture, which had previously only been reported as Emery-Dreifuss muscular dystrophy with X-linked recessive inheritance. Thus, more than one mode of inheritance is possible for this unusual and distinctive form of muscular dystrophy.
D000328:Adult; D001145:Arrhythmias, Cardiac / Q000150:complications; D002574:Cervical Vertebrae / Q000002:abnormalities / Q000000981:diagnostic imaging; D003286:Contracture / Q000150:complications; D004576:Electromyography; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D009132:Muscles / Q000201:enzymology; D009135:Muscular Diseases / Q000150:complications / Q000503:physiopathology; D009136:Muscular Dystrophies / Q000150:complications / Q000235:genetics*; D020389:Muscular Dystrophy, Emery-Dreifuss; D009334:Neck Muscles; D010375:Pedigree; D011859:Radiography