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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
  • Epileptic encephalopathy with global cerebral demyelination
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.
  • 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.
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  • 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
  • Epileptic encephalopathy with global cerebral demyelination
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.