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Genetic and Rare Diseases Information Center (GARD)

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Limb-girdle muscular dystrophy, type 2B


Other Names for this Disease

  • LGMD2B
  • LGMD3
  • Muscular dystrophy, limb-girdle, type 3
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Overview

Limb-girdle muscular dystrophy type 2B (LGMD2B) is an inherited condition that affects the muscles and is caused by mutations in the gene encoding dysferlin, located on chromosome 2p12.[1] This condition belongs to a group of muscle disorders called limb-girdle muscular dystrophies, which are characterized by progressive loss of muscle bulk and symmetrical weakening of voluntary muscles, primarily those in the shoulders and around the hips.[2] Individuals with LGMD2B have minimal shoulder girdle and calf involvement. Age of onset is between the teen years and the late 30s. There is no clear evidence of cardiac involvement. The condition is inherited in an autosomal recessive manner. No specific treatment is known. Many patients utilize physical therapy to prevent the worsening of contractures.[1]
Last updated: 11/1/2010

References

  1. van der Kooi A. Autosomal recessive limb-girdle muscular dystrophy type 2B. Orphanet. 2004; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=268. Accessed 11/1/2010.
  2. Muscular Dystrophy: Hope Through Research. National Institute of Neurological Disorders and Stroke Website. 2010; http://www.ninds.nih.gov/disorders/md/detail_md.htm. Accessed 11/1/2010.
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Basic Information

In Depth Information

  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • 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 Limb-girdle muscular dystrophy, type 2B. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • LGMD2B
  • LGMD3
  • Muscular dystrophy, limb-girdle, type 3
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.