Spotlight on Emery-Dreifuss muscular dystrophy

In this article, Dr. Howard Worman of Columbia University discusses Emery-Dreifuss muscular dystrophy, a syndrome classically characterized by (1) slowly progressive muscle weakness and wasting in a scapulo-humeroperoneal distribution, (2) early contractures of the elbows, ankles, and posterior neck, and (3) dilated cardiomyopathy with conduction defects. Originally described as an X-linked disorder, Emery-Dreifuss muscular dystrophy-like phenotypes can arise from mutations in both autosomal and X chromosome genes including those encoding emerin and A-type lamins as well as in less frequent cases those encoding nesprin1, nesprin2, SUN1, SUN2, four-and-a-half-LIM protein 1, LUMA, and lamina-associated polypeptide 1. Although the skeletal muscle involvement can vary as a result of mutations in these genes, cardiomyopathy is the most prevalent and potentially life-threatening feature.

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