Dystrophy, Myotonic

National Organization for Rare Disorders, Inc.

Important
It is possible that the main title of the report Dystrophy, Myotonic 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

  • Curschmann-Batten-Steinert syndrome
  • DM
  • myotonia atrophica
  • Steinert disease
  • dystrophia myotonia

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.

Resources

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 Arthritis and Musculoskeletal and Skin Diseases
Information Clearinghouse
One AMS Circle
Bethesda, MD 20892-3675
USA
Tel: (301)495-4484
Fax: (301)718-6366
Tel: (877)226-4267
TDD: (301)565-2966
Email: NIAMSinfo@mail.nih.gov
Internet: http://www.niams.nih.gov/

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/

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

Myotonic Dystrophy Support Group
19-21 Main Road
Gedling
Nottingham, NG4 3HQ
United Kingdom
Tel: 01159875869
Tel: 01159870080
Email: contact@mdsguk.org
Internet: http://www.myotonicdystrophysupportgroup.org/

Myotonic Dystrophy Foundation
431 Burgess Dr.
Ste 200
Menlo Park, CA 94025
USA
Tel: (916)788-2626
Fax: (916)788-2646
Tel: (866)968-6642
Email: info@myotonic.org
Internet: http://www.myotonic.org

Child Neurology Foundation
201 Chicago Ave, #200
Minneapolis, MN 55415
USA
Tel: (952)641-6100
Fax: (952)881-6276
Tel: (877)263-5430
Email: jstone@childneurologyfoundation.org
Internet: http://www.childneurologyfoundation.org

Medical Home Portal
Dept. of Pediatrics
University of Utah
P.O. Box 581289
Salt Lake City, UT 84158
Tel: (801)587-9978
Fax: (801)581-3899
Email: mindy.tueller@utah.edu
Internet: http://www.medicalhomeportal.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:  7/23/2007
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