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

Dystrophy, Myotonic


Synonyms of Dystrophy, Myotonic
  • Curschmann-Batten-Steinert syndrome
  • DM
  • dystrophia myotonia
  • myotonia atrophica
  • Steinert disease

Disorder Subdivisions

  • myotonic dystrophy type 1 (DM1)
  • myotonic dystrophy type 2 (DM2)


General Discussion
Myotonic dystrophy type 1 (DM1) is an autosomal dominant, multi-system disorder that affects both smooth and skeletal muscles and may affect the central nervous system, heart, eyes, and/or endocrine systems. There are three types of DM1 that are distinguished by the severity of disease and age of onset. Mild DM1 is characterized by cataracts and sustained muscle contractions (myotonia). Classic DM1 is characterized by muscle weakness and wasting (atrophy), cataracts, myotonia and abnormalities in the heart?s conduction of electrical impulses. Congenital DM1 is characterized by muscle weakness (hypotonia), difficulty breathing, mental retardation and early death.

DM1 is caused by an abnormality in the DMPK gene. Affected individuals have an increased number of copies of a portion of this gene called CTG. The greater the number of repeated copies of CTG, the more severe the disorder.

Myotonic dystrophy type 2 (DM2), formerly called proximal myotonic myopathy (PROMM) is an autosomal dominant disorder with symptoms that are similar to DM1, but tend to be milder and more variable than DM1. DM2 is an autosomal dominant genetic disorder caused by an abnormality in the ZNF9 gene on chromosome 3q. Affected individuals have an increased number of copies of a portion of this gene.

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Organizations related to Dystrophy, Myotonic
  • International Myotonic Dystrophy Organization
    PO Box 1121
    Sunland CA 91041-1121
    Phone #: 818-951-2311
    800 #: 866-679-7954
    e-mail: info@myotonicdystrophy.org & myotonicorg@aol.com
    Home page: http://www.myotonicdystrophy.org
  • 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
  • Myotonic Dystrophy Foundation
    3031 Stanford Ranch Road
    Rocklin CA 95765-5554
    Phone #: 866-968-6642
    800 #: 866-968-6642
    e-mail: info@myotonic.com
    Home page: http://www.myotonic.com
  • Myotonic Dystrophy Support Group
    35A Carlton Hill
    Carlton, Nottingham None NgH 1BG
    Phone #: 011-5 9-87 5869
    800 #: N/A
    e-mail: mdsg@tesco.net
    Home page: http://www.mdsguk.org
  • NIH/National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse
    1 AMS Circle
    Bethesda MD 20892-3675
    Phone #: 301-495-4484
    800 #: 877-226-4267
    e-mail: NIAMSinfo@mail.nih.gov
    Home page: http://www.niams.nih.gov/Health_Info
  • 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