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Genetic and Rare Diseases Information Center (GARD)

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Limb-girdle muscular dystrophy, type 2C


Other Names for this Disease

  • Adhalin deficiency, secondary
  • DMDA
  • DMDA1
  • Duchenne-like muscular dystrophy, autosomal recessive, type 1
  • Gamma-sarcoglycanopathy
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

Limb-girdle muscular dystrophy type 2C (LGMD2C) is a condition that affects the muscles and is caused by mutations in the gamma-sarcoglycan gene.[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] LGMD2C is inherited in an autosomal recessive manner, and treatment is based on an individual's symptoms.[2]
Last updated: 4/14/2009

References

  1. Limb-girdle muscular dystrophy type 2C . OMIM Database. 1/23/2009; http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=253700. Accessed 4/14/2009.
  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

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  • The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

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 2C. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Adhalin deficiency, secondary
  • DMDA
  • DMDA1
  • Duchenne-like muscular dystrophy, autosomal recessive, type 1
  • Gamma-sarcoglycanopathy
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.