Myotubular Myopathy

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
Fax: (409)945-2162
Email: info@mtmrg.org
Internet: http://www.mtmrg.org

Muscular Dystrophy Association
3300 E. Sunrise Dr
Tucson, AZ 85718
USA
Tel: 5205292000
Fax: 5205295300
Tel: 8003444863
Email: mda@mdausa.org
Internet: http://www.mdausa.org

National Institute of Neurological Disorders and Stroke (NINDS)
31 Center Drive
8A07
Bethesda, MD 20892-2540
Tel: (301)496-5751
Fax: (301)402-2186
Tel: (800)352-9424
Email: braininfo@ninds.nih.gov
Internet: http://www.ninds.nih.gov/

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

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: 2/2/2005
Copyright 1994, 1996, 2005 National Organization for Rare Disorders, Inc.

WebMD Medical Reference from the National Organization of Rare Disorders

Last Updated: February 02, 2005

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