Emery-Dreifuss muscular dystrophy is a phenotype of (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, the Emery-Dreifuss muscular dystrophy phenotype can arise from mutations in both autosomal and X chromosome genes, including those encoding emerin, A-type lamins, nesprin1, nesprin2, four-and-a-half-LIM protein 1, and LUMA. Cardiomyopathy is the life-threatening feature that can occur with variable or no skeletal muscle involvement as a result of mutations in these genes. In this clinical summary, Dr. Howard Worman of Columbia University discusses the manifestations, etiology, and diagnosis of Emery-Dreifuss muscular dystrophy.
To view the complete clinical summary, click here.
MedLink Neurology authors are always at work to bring you broad and up-to-date coverage of neurology topics. We are pleased to highlight clinical summaries that have been recently added or updated and to introduce the authors who write these authoritative articles. We hope you enjoy these overviews and appreciate the contributions of our more than 450 authors who keep MedLink Neurology the premier information resource for neurologists.