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Myotubular Myopathy

National Organization for Rare Disorders, Inc.

Important
It is possible that the main title of the report Myotubular Myopathy is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

  • Centronuclear Myopathy
  • Myopathy, Myotubular
  • Myotubular Myopathy, X-linked
  • Myotubular Myopathy Type 1 (MTM1)
  • X-linked Myotubular Myopathy
  • X-linked Congenital Recessive Muscle Hypotrophy with Central Nuclei
  • X-linked Recessive Myotubular Myopathy
  • Autosomal Recessive Centronuclear Myopathy
  • Autosomal Dominant Centronuclear Myopathy
  • X-linked Recessive Centronuclear Myopathy

Disorder Subdivisions

  • X-Linked Centronuclear Myopathy
  • Autosomal Recessive Centronuclear Myopathy
  • Autosomal Dominant Centronuclear Myopathy

General Discussion

Myotubular myopathy is a rare muscle-wasting disorder that occurs in three forms based on severity, inheritance, and symptoms. X-linked myotubular myopathy, the most severe form, is generally present at birth or occurs in infancy. Autosomal recessive myotubular myopathy is a less severe form that usually occurs during infancy or childhood. The least severe form, autosomal dominant myotubular myopathy, usually presents between the first and third decades of life and is slowly progressive.

Resources

Myotubular Myopathy Resource Group
2602 Quaker Drive
Texas City, TX 77590
Tel: (409)945-8569
Email: info@mtmrg.org
Internet: http://www.mtmrg.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
Internet: http://www.mda.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
Email: me20t@nih.gov
Internet: http://www.ninds.nih.gov/

MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
USA
Tel: (920)336-5333
Fax: (920)339-0995
Tel: (877)336-5333
Email: mums@netnet.net
Internet: http://www.netnet.net/mums/

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/

Madisons Foundation
PO Box 241956
Los Angeles, CA 90024
Tel: (310)264-0826
Fax: (310)264-4766
Email: getinfo@madisonsfoundation.org
Internet: http://www.madisonsfoundation.org

Child Neurology Foundation
2000 West 98th Street
Bloomington, MN 55431
USA
Tel: (952)641-6100
Fax: (952)881-6276
Tel: (877)263-5430
Email: jstone@childneurologyfoundation.org
Internet: http://www.childneurologyfoundation.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:  4/11/2008
Copyright  1994, 1996, 2005 National Organization for Rare Disorders, Inc.

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