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Semin Neurol 1999; 19(1): 67-79
DOI: 10.1055/s-2008-1040827
© 1999 by Thieme Medical Publishers, Inc.

Emery-Dreifuss Muscular Dystrophy

Alan S. Zacharias1 , Maylene E. Wagener2 , Stephen T. Warren2 , 3 , Linton C. Hopkins1
  • 1Department of Neurology, Emory University School of Medicine, Atlanta, Georgia
  • 2Department of Biochemistry, Emory University School of Medicine, Atlanta, Georgia
  • 3Department of Pediatrics and Genetics, Emory University School of Medicine, Atlanta, Georgia
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Publication History

Publication Date:
19 March 2008 (online)

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ABSTRACT

Emery-Dreifuss muscular dystrophy (EDMD) is the third most common X-linked muscular dystrophy. This disorder is characterized by childhood onset of early contractures, humeroperoneal muscle atrophy, and cardiac conduction abnormalities. Weakness is slowly progressive, but there is a broad spectrum of clinical severity. Patients and carriers are at risk of sudden death. Regular cardiac evaluation is mandatory to assess the risk of cardiac arrhythmias. Unique atrial pathology is seen at autopsy. The mutated gene in EDMD is localized to the long arm of the X chromosome. Mutations in the gene lead to abolished synthesis of the gene product, emerin. Emerin is localized to the nuclear membrane of skeletal, cardiac, and smooth muscle. The term Emery-Dreifuss syndrome describes patients who have the EDMD phenotype without X-linked inheritance. There is no treatment for the underlying disease, but early placement of pacemakers may be lifesaving.

Keywords

Emery-Dreifuss dystrophy - arrhythmia - contracture