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Dystrophy, Myotonic

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.

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Resources

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

NIH/National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse
1 AMS Circle
Bethesda, MD 20892-3675
USA
Tel: 3014954484
Fax: 3017186366
Tel: 8772264267
TDD: 3015652966
Email: NIAMSinfo@mail.nih.gov
Internet: http://www.niams.nih.gov/Health_Info

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/

International Myotonic Dystrophy Organization
PO Box 1121
Sunland, CA 91041-1121
USA
Tel: 8189512311
Fax: 8183520096
Tel: 8666797954
Email: info@myotonicdystrophy.org & myotonicorg@aol.com
Internet: http://www.myotonicdystrophy.org

Myotonic Dystrophy Support Group
35A Carlton Hill
Carlton, Nottingham, NgH 1BG
UK
Tel: 0115 987 5869
Fax: 0115 987 6462
Email: mdsg@tesco.net
Internet: http://www.mdsguk.org

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: 7/23/2007
Copyright 1987, 1988, 1990, 1994, 2000, 2001, 2002, 2005, 2007 National Organization for Rare Disorders, Inc.

WebMD Medical Reference from the National Organization of Rare Disorders

Last Updated: July 23, 2007

This information is not intended to replace the advice of a doctor. Healthwise disclaims any liability for the decisions you make based on this information.