Genetic and Rare Diseases Information Center (GARD)


Other names people use for this condition
  • Dystrophia myotonica 2
  • DM2
  • Proximal myotonic myopathy
  • PROMM
  • Myotonic myopathy, proximal
  • Ricker syndrome
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Home > Genetic & Rare Diseases Information Center (GARD) > Myotonic dystrophy 2



Myotonic dystrophy 2
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Myotonic dystrophy type 2, one of the two types of myotonic dystrophy, is an inherited type of muscular dystrophy that affects the muscles and other body systems (e.g., heart, eyes, pancreas). The condition is characterized by prolonged muscle tensing (myotonia) as well as muscle weakness, pain, and stiffness. Signs and symptoms of myotonic dystrophy usually develop when a person is in his or her twenties or thirties. The muscles typically affected are those in the neck, fingers, elbows, and hips. Facial and ankle may also be affected, but are less commonly involved.[2] The severity of myotonic dystrophy type 2 varies widely among those who have it, even among family members.[1]  The condition is inherited in an autosomal dominant pattern and is caused by mutations in the CNBP gene.[1] Treatment is based on the individual's specific signs and symptoms.



References
  1. Learning About Myotonic Dystrophy. National Human Genome Research Institute (NHGRI). April 1, 2008 Available at: http://www.genome.gov/25521207. Accessed April 14, 2008.
  2. Dalton JC, Ranum LPW, Day JW. Myotonic Dystrophy Type 2. GeneReviews. April 23, 2007 Available at: http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=myotonic-d2#myotonic-d2. Accessed June 17, 2009.

Questions & Answers (Found 1 Question)
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 2 click on the boxes below:
More Detailed Information NLM Gateway Scientific Conferences Support Groups Clinical Trials & Research
 General | Management Guidelines
More Detailed Information (Found 8 resources)
Links where you can find more general information, comprehensive resources, selected full text journal articles, and news updates

  • General

    • Genetics Home Reference (GHR) contains a condition summary on Myotonic dystrophy 2. 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.
    • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
    • The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Myotonic dystrophy 2. Click on the link to go to OMIM and review these resources.
    • PubMed is a searchable database of medical literature and lists journal articles that discuss Myotonic dystrophy 2. 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 on the link to view the article on this topic.
    • 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.
 
Scientific Conferences (Found 1 resource)
Completed and upcoming scientific conferences and programs that have been sponsored by the National Institutes of Health

  • Past Conferences

    • 2009 Triplet Repeat Disorders Gordon Conference, May 31, 2009 - June 5, 2009
      Description: The top two priorities of this conference were training and the communication of cutting-edge science in the area of CAG triplet repeat disorders. The focus of this conference was on areas of rapid advancement and latest developments. Speakers were selected for their expertise, recent contributions to the field, and ability to provide lively presentations. The structured discussion leaders were instructed to focus on issues that cut across each presentation in a session.
 Umbrella Organizations | Disease-Specific Organizations | Live Chat/E-mail Lists | Parent Matching Organizations
Support Groups (Found 10 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
    • Muscular Dystrophy Campaign
      61 Southwark Street
      London SE1 0HL
      United Kingdom
      Phone: 0800 652 6352; (+44) 0 020 7803 4800
      Fax: (+44) 0 020 7401 3495
      Email: info@muscular-dystrophy.org
      Web: www.muscular-dystrophy.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 2 resources)
Resources where you may find research studies and clinical trials

    • ClinicalTrials.gov lists trials that are studying or have studied Myotonic dystrophy 2. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.
  • 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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