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Collagen Type VI-Related Disorders

National Organization for Rare Disorders, Inc.

Important

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

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.

Resources

March of Dimes Birth Defects Foundation

1275 Mamaroneck Avenue

White Plains, NY 10605

Tel: (914)997-4488

Fax: (914)997-4763

Tel: (888)663-4637

Email: Askus@marchofdimes.com

Internet: http://www.marchofdimes.com



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

Internet: http://www.mda.org/



Muscular Dystrophy Campaign

61 Southwark Street

London, SE1 0HL

United Kingdom

Tel: 02078034800

Email: info@muscular-dystrophy.org

Internet: 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

TDD: (301)468-5981

Internet: http://www.ninds.nih.gov/



Society for Muscular Dystrophy Information International

P.O. Box 7490

Bridgewater

Nova Scotia, B4V 2X6

Canada

Tel: 9026853961

Fax: 9026853962

Email: smdi@auracom.com

Internet: http://www.nsnet.org/smdi/



Muscular Dystrophy Australia

111 Boundary Road

North Melbourne

VIC 3051

Australia

Tel: 61393209555

Fax: 61393209595

Tel: 1800656632

Email: info@mda.org.au

Internet: http://www.mda.org.au



European Alliance of Neuromuscular Disorders Associations

MDG Malta 4

Gzira Road

Gzira, GAR 04

Malta

Tel: 0035621346688

Fax: 0035621318024

Email: eamda@hotmail.com

Internet: http://www.eamda.net



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

Internet: http://www.new-horizons.org



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

TDD: (888)205-3223

Internet: http://rarediseases.info.nih.gov/GARD/



Cure CMD (Congenital Muscular Dystrophy)

P.O. Box 701

Olathe, KS 66051

USA

Tel: (866)400-3626

Email: info@curecmd.com

Internet: http://www.curecmd.org



For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, 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. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

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.

For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

Last Updated:  4/5/2012

Copyright  2007, 2012 National Organization for Rare Disorders, Inc.

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