X-linked muscular dystrophy with early contractures and cardiomyopathy (Emery-Dreifuss type).
The original Virginia family with X-linked muscular dystrophy with early contractures and cardiomyopathy (Emery-Dreifuss type) has been reinvestigated 25 years later. The findings confirm that a cardiomyopathy, presenting most often as atrioventricular block, is a significant feature of the disease, which is characterized by the triad of: 1) slowly progressive muscle wasting and weakness with a humero-peroneal distribution in the early stages; 2) early contractures of the elbows, Achilles tendons, and post-cervical muscles; and 3) a cardiomyopathy usually presenting as heart block (some female carriers may also develop heart block). Other reported families with X-linked Emery-Dreifuss muscular dystrophy as well as a rare autosomal variant are reviewed, and differentiation from scapulo-peroneal muscular dystrophy and the rigid spine syndrome is discussed.
Emery
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Division of Neurology, Duke University Medical Center, Durham, North Carolina.
D003286:Contracture / Q000235:genetics*; D003937:Diagnosis, Differential; D005260:Female; D008040:Genetic Linkage; D006327:Heart Block / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D009136:Muscular Dystrophies / Q000235:genetics*; D010375:Pedigree; D013577:Syndrome; D014960:X Chromosome