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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Bethlem myopathy


Other Names for this Disease
  • Benign autosomal dominant myopathy
  • Muscular dystrophy, benign congenital
  • Myopathy, benign congenital, with contractures
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Overview

Bethlem myopathy is an inherited movement disorder characterized by progressive muscle weakness and joint stiffness (contractures) in the fingers, wrists, elbows, and ankles. Due to a progressive course, up to two-thirds of people with this condition require a walker or wheelchair after the age of 50. Bethlem myopathy is caused by mutations in the COL6A1, COL6A2, and COL6A3 genes. Most cases are inherited in an autosomal dominant pattern and occur as the result of a new mutation. In rare cases, the disease follows an autosomal recessive pattern of inheritance.[1][2] Treatment depends upon individual symptoms, but routinely involves physical therapy. Surgery or other measures may be undertaken as needed.[2]
Last updated: 2/4/2015

References

  1. Bethlem myopathy. Genetics Home Reference (GHR). October 2010; http://ghr.nlm.nih.gov/condition/bethlem-myopathy. Accessed 2/4/2015.
  2. Lampe AK, Flanigan KM, Bushby KM, Hicks D. Collagen Type VI-Related Disorders. GeneReviews. August 9, 2012; http://www.ncbi.nlm.nih.gov/books/NBK1503/. Accessed 2/4/2015.
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Basic Information

  • Genetics Home Reference contains information on Bethlem myopathy. This website is maintained by the National Library of Medicine.
  • 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.
  • The Muscular Dystrophy Association has developed a resource called "Facts About Myopathies" that discusses commonly asked questions regarding myopathies. Click on the link above to view this information page.

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 Bethlem myopathy. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Benign autosomal dominant myopathy
  • Muscular dystrophy, benign congenital
  • Myopathy, benign congenital, with contractures
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.