Genetic and Rare Diseases Information Center (GARD)


Other names people use for this condition
  • Dystrophia myotonica
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Home > Genetic & Rare Diseases Information Center (GARD) > Myotonic dystrophy

* This condition is not a rare disease. It is a condition about which the GARD Information Center has received a question.

Myotonic dystrophy *
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Myotonic dystrophy is a genetic disorder of the muscles and other body systems. It is the most common form of muscular dystrophy that begins in adulthood; usually during a person's twenties or thirties. This disorder is characterized by progressive muscle wasting and weakness, particularly in the lower legs, hands, neck, and face. People with myotonic dystrophy often have prolonged muscle tensing (myotonia) and are not able to relax certain muscles after use. The severity of the condition varies widely among affected people, even among members of the same family.[1]

There are two types of myotonic dystrophy: myotonic dystrophy type 1 and myotonic dystrophy type 2. The symptoms seen in patients with myotonic dystrophy type 2 tends to be milder than those observed in type 1. Although both types are inherited in an autosomal dominant pattern, they are caused by mutations in different genes. Myotonic dystrophy type 1 is caused by mutations in the DMPK gene, while mutations in the CNBP gene are responsible for myotonic dystrophy type 2.[1]

References
  1. Myotonic dystrohpy. Genetics Home Reference (GHR). November 2006 Available at: http://ghr.nlm.nih.gov/condition=myotonicdystrophy. Accessed October 23, 2009.

Questions & Answers (Found 2 Questions)
A list of questions from the public on rare and/or genetic diseases that have been answered by the Genetic and Rare Disease Information Center. Click on each question to find the answer.
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For more information about Myotonic dystrophy click on the boxes below:
More Detailed Information NLM Gateway Services Support Groups Clinical Trials & Research
 General | Management Guidelines
More Detailed Information (Found 6 resources)
Links where you can find more general information, comprehensive resources, selected full text journal articles, and news updates

  • General

    • The Genetic Alliance is an international coalition comprised of more than 600 advocacy, research and health care organizations representing millions of individuals with genetic conditions. Click on the link to view information on this topic.
    • Genetics Home Reference (GHR) contains a condition summary on Myotonic dystrophy. Click on the link to go to GHR and review this summary.
    • The Muscular Dystrophy Association (MDA) provides additional information about myotonic dystrophy. Click on the link to view this information.
    • The National Human Genome Research Institute's (NHGRI) mission encompasses a broad range of studies aimed at understanding the structure and function of the human genome and its role in health and disease. Click on the link to view the information page on this topic.
    • PubMed is a searchable database of medical literature and lists journal articles that discuss Myotonic dystrophy. Click on the link to view a sample search on this topic.
  • Management Guidelines

    • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. Click here to view the article on myotonic dystrophy type 1 and here for an article on mytonic dystrophy type 2.
 
NLM Gateway (Found 1 resource)
A tool to search across multiple resources offered on the National Library of Medicine's Website

    • NLM Gateway allows users to search many resources offered on the National Library of Medicine's Web site at once to quickly find more information about this condition. Some of the resources may be a duplicate of the resources listed on this page. To search NLM Gateway, click on the link; the condition name will already be in the search box, so you can just click the “Search” button.
 
Services (Found 1 resource)
Links to Web sites that offer services, such as tools to locate specialists, specialty clinics, genetic services, and genetic testing laboratories

  • Testing

    • GeneTests lists laboratories offering clinical genetic testing for this condition. Clinical genetic tests are ordered to help diagnose a person or family and to aid in decisions regarding medical care or reproductive issues. Talk to your health care provider or a genetic professional to learn more about your testing options.
 Umbrella Organizations | Disease-Specific Organizations | Live Chat/E-mail Lists | Parent Matching Organizations
Support Groups (Found 9 resources)
Groups providing a wide range of services, supportive resources, and information

  • Umbrella Organizations

  • Disease-Specific Organizations

    • Myotonic Dystophy Foundation
      3031 Stanford Ranch Road, Suite 2332
      Rocklin, CA 95765
      Toll-free:  86-MYOTONIC (866-968-6642)
      E-mail: info@myotonic.com
      Web site: www.myotonic.com
    • International Myotonic Dystrophy Organization
      P.O. Box 1121
      Sunland, CA 91041-1121
      Telephone: 760-918-0377
      Fax: 760-444-2716
      E-mail: info@myotonicdystrophy.org
      Web site: www.myotonicdystrophy.org
    • Muscular Dystrophy Association (MDA)
      3300 East Sunrise Drive
      Tucson, AZ 85718-3208
      Phone: 1-800-FIGHT-MD (1-800-344-4863); 520-529-2000
      Fax: 520-529-5300
      Email: mda@mdausa.org
      Web site: www.mdausa.org
    • MDA - Myotonic dystrophy
      3300 East Sunrise Drive
      Tucson AZ 85718-3208
      Phone: 800-572-1717
      Fax: 520-529-5300
      Email: mda@mdausa.org
      Web: www.mdausa.org
  • Live Chat/E-mail Lists

    • The National Organization of Rare Disorders (NORD) has partnered with Inspire.com to launch an online community for people with rare diseases called The NORD Rare Disease Community. This community connects medical patients, family members, caregivers, and professionals. Click on The NORD Rare Disease Community to learn more.
    • RareShare is an online social hub dedicated to patients, families and healthcare professionals affected by rare medical disorders. Click on RareShare to learn more.
  • Parent Matching Organizations

 
Clinical Trials & Research (Found 4 resources)
Resources where you may find research studies and clinical trials

    • ClinicalTrials.gov lists trials that are studying or have studied Myotonic dystrophy. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.
    • GeneTests lists laboratories offering research genetic testing for this condition. Research genetic tests may be used to find disease-causing genes, learn how genes work, or aid in the understanding of a genetic disorder. In many cases test results are not shared with the patient or physician. Talk to your health care provider or a genetic professional to learn more about research testing for this condition.
    • The Research Portfolio Online Reporting Tool (RePORT) provides access to reports, data, and analyses of research activities at the National Institutes of Health (NIH), including information on NIH expenditures and the results of NIH-supported research. Although these projects may not conduct studies on humans, you may want to contact the investigators to learn more. To search for studies, click on the link and enter the disease name in the "Terms Search" box. Then click "Submit Query".
      Link: http://projectreporter.nih.gov/reporter.cfm
  • Patient Registry

    • In 2000,  the National Registry for Myotonic Dystrophy (DM) and Facioscapilohumeral Muscular Dystrophy (FSHD) was developed at the University of Rochester in Rochester, New York with funding from the National Institutes of Health (NIH). It was developed to facilitate research by making available to investigators anonymous data on Registry members, by helping investigators recruit subjects into their clinical studies, and by providing educational materials to patients and family members.

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