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X‐linked muscular dystrophy with early contractures and cardiomyopathy (Emery‐Dreifuss type)
Author(s) -
Emery Alan E. H.
Publication year - 1987
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1987.tb03302.x
Subject(s) - muscular dystrophy , medicine , muscle contracture , cardiomyopathy , cardiology , weakness , anatomy , heart failure
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.