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Collagen Type VI-Related Disorders

Abstract

You are reading a NORD Rare Disease Report Abstract. NORD’s full collection of reports on over 1200 rare diseases is available to subscribers (click here for details). We are now also offering two full rare disease reports per day to visitors on our Web site.

NORD is grateful to Shireen R. Lamande, PhD, NHMRC Senior Research Fellow, Muscular Dystrophy Research, Murdoch Childrens Research Institute, and Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Parkville, Australia, for assistance in the preparation of this report.

Synonyms of Collagen Type VI-Related Disorders

  • No synonyms found.

Disorder Subdivisions

  • benign congenital myopathy with contractures
  • Bethlem myopathy
  • Ullrich congenital muscular dystrophy (UCMD)
  • Ullrich disease

General Discussion

Collagen type VI-related disorders encompass two genetic muscle disorders formerly thought to be separate entities: Bethlem myopathy and Ullrich congenital muscular dystrophy. Researchers have determined that these disorders represent a disease spectrum associated with disruptions or changes (mutations) of certain genes that contain instructions to produce (encode) collagen type VI proteins. Bethlem myopathy represents the milder form of this spectrum and Ullrich congenital muscular dystrophy represents the severe end. Common symptoms include progressive muscle weakness and degeneration (atrophy) and abnormally fixed joints that occur when thickening and shortening of tissue such as muscle fibers cause deformity and restrict the movement of an affected area (contractures). Both Bethlem myopathy and Ullrich CMD can be inherited as autosomal dominant or autosomal recessive traits.

Collagen Type VI-Related Disorders Resources

Please note that some of these organizations may provide information concerning certain conditions potentially associated with this disorder.

Organizations:

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