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Genetic and Rare Diseases Information Center (GARD)

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Ullrich congenital muscular dystrophy


Other Names for this Disease

  • Late onset scleroatonic familial myopathy (subtype)
  • Scleroatonic muscular dystrophy
  • UCMD
  • Ullrich disease
  • Ullrich scleroatonic muscular dystrophy
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Overview

Ullrich congenital muscular dystrophy is a condition that mainly affects skeletal muscles (the muscles used for movement). Affected individuals show severe muscle weakness soon after birth, develop stiff joints (contractures) in their knees and elbows, and may have an unusual range of movement (hypermobility) in their wrists and ankles. This condition is caused by mutations in the COL6A1, COL6A2, and COL6A3 genes. Ullrich congenital muscular dystrophy is typically inherited in an autosomal recessive pattern. In rare cases, this condition may be inherited in an autosomal dominant pattern.[1]
Last updated: 3/4/2014

References

  1. Ullrich congenital muscular dystrophy. Genetics Home Reference (GHR). October 2010; http://ghr.nlm.nih.gov/condition/ullrich-congenital-muscular-dystrophy. Accessed 3/4/2014.
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Basic Information

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

  • The Online Mendelian Inheritance in Man (OMIM) is an 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 Ullrich congenital muscular dystrophy. Click on the link to view a sample search on this topic.

Insurance Issues

Other Names for this Disease
  • Late onset scleroatonic familial myopathy (subtype)
  • Scleroatonic muscular dystrophy
  • UCMD
  • Ullrich disease
  • Ullrich scleroatonic 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.