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Genetic and Rare Diseases Information Center (GARD)

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Facioscapulohumeral muscular dystrophy


Other Names for this Disease

  • Facioscapulohumeral muscular dystrophy 1A
  • FSHD
  • FSHD1A
  • FSHMD1A
  • Landouzy-Dejerine muscular dystrophy
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

Facioscapulohumeral muscular dystrophy is a disorder characterized by muscle weakness and wasting (atrophy). This condition gets its name from the areas of the body that are affected most often: muscles in the face (facio-), around the shoulder blades (scapulo-), and in the upper arms (humeral). The signs and symptoms of facioscapulohumeral muscular dystrophy usually appear in adolescence. However, the onset and severity of the condition varies widely. Facioscapulohumeral muscular dystrophy results from a deletion of genetic material from a region of DNA known as D4Z4. This region is located near one end of chromosome 4. It is inherited in an autosomal dominant pattern.[1]
Last updated: 3/15/2013

References

  1. Facioscapulohumeral muscular dystrophy. Genetics Home Reference (GHR). 2009; http://ghr.nlm.nih.gov/condition/facioscapulohumeral-muscular-dystrophy. Accessed 3/15/2013.
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Basic Information

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

In Depth Information

  • The 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 Facioscapulohumeral muscular dystrophy. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Facioscapulohumeral muscular dystrophy 1A
  • FSHD
  • FSHD1A
  • FSHMD1A
  • Landouzy-Dejerine muscular dystrophy
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.