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Genetic and Rare Diseases Information Center (GARD)

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Emery-Dreifuss muscular dystrophy


Other Names for this Disease

  • EDMD
  • Humeroperoneal neuromuscular disease, (formerly)
  • Muscular dystrophy, tardive, Dreifuss-Emery type, with contractures
  • Scapuloperoneal syndrome, X-linked (formerly)
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Emery-Dreifuss muscular dystrophy is a condition that affects the joints, muscles, and heart. Joint symptoms tend to present in childhood and involve contractures of the elbows, ankles, and neck. Children and adults with this dystrophy usually experience slowly worsening muscle weakness and wasting. By adulthood, most people with  Emery-Dreifuss muscular dystrophy develop heart problems, such as conduction defects and arrhythmias. Emery-Dreifuss muscular dystrophy is caused by mutations in the EMD and LMNA genes. It can be inherited in an X-linked, autosomal dominant, or autosomal recessive fashion.[1]

Last updated: 8/16/2013

References

  1. Emery-Dreifuss muscular dystrophy. Genetics Home Reference. June 2006; http://ghr.nlm.nih.gov/condition/emery-dreifuss-muscular-dystrophy. Accessed 8/16/2013.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Emery-Dreifuss muscular dystrophy. This website is maintained by the National Library of Medicine.

In Depth Information

  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Emery-Dreifuss muscular dystrophy. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • EDMD
  • Humeroperoneal neuromuscular disease, (formerly)
  • Muscular dystrophy, tardive, Dreifuss-Emery type, with contractures
  • Scapuloperoneal syndrome, X-linked (formerly)
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.