Diseases & Conditions


A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

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: info@curecmd.com
      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: eamda@hotmail.com
      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: Askus@marchofdimes.com
      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: mda@mdausa.org
      Home page: http://www.mdausa.org
    • Muscular Dystrophy Campaign
      7-11 Prescott Place
      London None SW4 6BS
      Phone #: N/A
      800 #: --
      e-mail: info@muscular-dystrophy.org
      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: braininfo@ninds.nih.gov
      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: horizons@new-horizons.org
      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: smdi@auracom.com
      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