Collagen Type VI-Related Disorders / Disease

Diseases & Conditions

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Collagen Type VI-Related Disorders

Synonyms of Collagen Type VI-Related Disorders

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). Bethlem myopathy is inherited as an autosomal dominant trait. Most cases of Ullrich CMD are inherited as an autosomal recessive trait [SL1].

Organizations related to Collagen Type VI-Related Disorders

Cure CMD (Congenital Muscular Dystrophy)
P.O. Box 701
Olathe KS 66051
Phone #: N/A
800 #: 866-400-3626
e-mail: [email protected]
Home page: http://www.curecmd.org
European Alliance of Neuromuscular Disorders Associations
MDG Malta 4,
Gzira Intl GAR 04
Phone #: 003-56 -21 346688
800 #: --
e-mail: [email protected]
Home page: http://www.eamda.net
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains NY 10605
Phone #: 914-428-7100
800 #: 888-663-4637
e-mail: [email protected]
Home page: http://www.marchofdimes.com
Muscular Dystrophy Association
3300 E. Sunrise Dr
Tucson AZ 85718
Phone #: 520-529-2000
800 #: 800-344-4863
e-mail: [email protected]
Home page: http://www.mdausa.org
Muscular Dystrophy Campaign
7-11 Prescott Place
London None SW4 6BS
Phone #: N/A
800 #: --
e-mail: [email protected]
Home page: http://www.muscular-dystrophy.org
National Institute of Neurological Disorders and Stroke (NINDS)
31 Center Drive
Bethesda MD 20892-2540
Phone #: 301-496-5751
800 #: 800-352-9424
e-mail: [email protected]
Home page: http://www.ninds.nih.gov/
New Horizons Un-Limited, Inc.
811 East Wisconsin Ave
Milwaukee WI 53202
Phone #: 414-299-0124
800 #: N/A
e-mail: [email protected]
Home page: http://www.new-horizons.org
Society for Muscular Dystrophy Information International
P.O. Box 4790
Nova Scotia None B4V 2X6
Phone #: 902--68-5-3961
800 #: --
e-mail: [email protected]
Home page: http://users.auracom.com/smdi

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ? (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html