X‐linked muscular dystrophy with early contractures and cardiomyopathy (Emery‐Dreifuss type)

作者：Alan E. H. Emery · 发表于：Clinical Genetics · 年份：1987 · DOI：10.1111/j.1399-0004.1987.tb03302.x · 被引用次数：86 · 研究领域：Muscle Physiology and Disorders、Genetic Neurodegenerative Diseases、Nuclear Structure and Function

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.