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

Myotubular Myopathy


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

Disorder Subdivisions

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

Organizations related to Myotubular Myopathy
  • MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
    150 Custer Court
    Green Bay WI 54301-1243
    Phone #: 920-336-5333
    800 #: 877-336-5333
    e-mail: mums@netnet.net
    Home page: http://www.netnet.net/mums/
  • Madisons Foundation
    PO Box 241956
    Los Angeles CA 90024
    Phone #: 310-264-0826
    800 #: N/A
    e-mail: getinfo@madisonsfoundation.org
    Home page: http://www.madisonsfoundation.org
  • 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
  • Myotubular Myopathy Resource Group
    2602 Quaker Drive
    Texas City TX 77590
    Phone #: 409-945-8569
    800 #: --
    e-mail: info@mtmrg.org
    Home page: http://www.mtmrg.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/



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