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.

To view the complete article, click here and log in.

Spotlight on Duchenne muscular dystrophy

Duchenne muscular dystrophy is a common and devastating disease affecting males. Dr. Gyula Acsadi of the University of Connecticut outlines the clinical presentation and advances in the molecular pathogenesis of Duchenne muscular dystrophy. Early recognition of cardiac and respiratory pathophysiology and proactive management, along with corticosteroid treatment, will have a significant impact on improving the outcome of Duchenne muscular dystrophy. Various genetic therapy strategies including “exon skipping” are entering into clinical trials, thus, improving the prospect for therapy for muscular dystrophies.

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.

Spotlight on Emery-Dreifuss muscular dystrophy

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.