Collagen Type VI-Related Disorders

National Organization for Rare Disorders, Inc.

Skip to the navigation

Important
It is possible that the main title of the report Collagen Type VI-Related Disorders is not the name you expected.

Disorder Subdivisions

  • None

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.

Supporting Organizations

Cure CMD (Congenital Muscular Dystrophy)

P.O. Box 701
Olathe, KS 66051
USA
Tel: (866)400-3626
Email: info@curecmd.com
Website: http://www.curecmd.org

European Alliance of Neuromuscular Disorders Associations

Linhartova 1
SI-1000 Ljubljana
Slovenia, GAR 04
Malta
Tel: 386 (0)1 47 20 500
Email: info@eamda.eu
Website: http://www.eamda.eu/

Genetic and Rare Diseases (GARD) Information Center

PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
Website: http://rarediseases.info.nih.gov/GARD/

March of Dimes

1275 Mamaroneck Avenue
White Plains, NY 10605
Tel: (914)997-4488
Fax: (914)997-4763
Email: AskUs@marchofdimes.org or preguntas@nacersano.org
Website: http://www.marchofdimes.org and nacersano.org

Muscular Dystrophy Association

3300 East Sunrise Drive
Tucson, AZ 85718-3208
USA
Tel: (520)529-2000
Fax: (520)529-5300
Tel: (800)572-1717
Email: mda@mdausa.org
Website: http://www.mda.org/

Muscular Dystrophy Australia

111 Boundary Road
North Melbourne
VIC 3051
Australia
Tel: 61393209555
Fax: 61393209595
Tel: 1800656632
Email: info@mda.org.au
Website: http://www.mda.org.au

Muscular Dystrophy Campaign

61 Southwark Street
London, SE1 0HL
United Kingdom
Tel: 2078034800
Email: info@musculardystrophyuk.org
Website: http://www.muscular-dystrophy.org

NIH/National Institute of Neurological Disorders and Stroke

P.O. Box 5801
Bethesda, MD 20824
Tel: (301)496-5751
Fax: (301)402-2186
Tel: (800)352-9424
Website: http://www.ninds.nih.gov/

New Horizons Un-Limited, Inc.

811 East Wisconsin Ave
P.O. Box 510034
Milwaukee, WI 53203
USA
Tel: (414)299-0124
Fax: (414)347-1977
Email: horizons@new-horizons.org
Website: http://www.new-horizons.org

Society for Muscular Dystrophy Information International

P.O. Box 7490
Nova Scotia, B4V 2X6
Canada
Tel: 9026853961
Fax: 9026853962
Email: smdi@auracom.com
Website: http://www.nsnet.org/smdi/

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report.

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

Last Updated:  4/29/2015
Copyright  2015 National Organization for Rare Disorders, Inc.