National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Dystrophy, Myotonic is not the name you expected.
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.
Child Neurology Foundation
- 201 Chicago Ave, #200
- Minneapolis, MN 55415
- Tel: (952)641-6100
- Fax: (952)881-6276
- Tel: (877)263-5430
- Email: email@example.com
- Website: http://www.childneurologyfoundation.org
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
- Website: http://rarediseases.info.nih.gov/GARD/
Medical Home Portal
- Dept. of Pediatrics
- University of Utah
- Salt Lake City, UT 84158
- Tel: (801)587-9978
- Fax: (801)581-3899
- Email: firstname.lastname@example.org
- Website: http://www.medicalhomeportal.org
Muscular Dystrophy Association
- 3300 East Sunrise Drive
- Tucson, AZ 85718-3208
- Tel: (520)529-2000
- Fax: (520)529-5300
- Tel: (800)572-1717
- Email: email@example.com
- Website: http://www.mda.org/
Myotonic Dystrophy Foundation
- P.O. Box 29543
- San Francisco, CA 94129
- Tel: (415)800-7777
- Tel: (866)968-6642
- Email: firstname.lastname@example.org
- Website: http://www.myotonic.org
Myotonic Dystrophy Support Group
- 19-21 Main Road
- Nottingham, NG4 3HQ
- United Kingdom
- Tel: 1159875869
- Tel: 1159870080
- Email: email@example.com
- Website: http://www.myotonicdystrophysupportgroup.org/
NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases
- Information Clearinghouse
- One AMS Circle
- Bethesda, MD 20892-3675
- Tel: (301)495-4484
- Fax: (301)718-6366
- Tel: (877)226-4267
- Email: NIAMSinfo@mail.nih.gov
- Website: 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
- Website: http://www.ninds.nih.gov/
For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, 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.
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.
Last Updated: 7/23/2007
Copyright 2007 National Organization for Rare Disorders, Inc.
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