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Genetic and Rare Diseases Information Center (GARD)

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Myotonic dystrophy type 2


Other Names for this Disease
  • DM2
  • Dystrophia myotonica type 2
  • Myotonic myopathy, proximal
  • PROMM
  • Proximal myotonic dystrophy
Related Diseases
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Overview

Myotonic dystrophy type 2, one of the two types of myotonic dystrophy, is an inherited muscular dystrophy that affects the muscles and other body systems (e.g., heart, eyes, and pancreas). It is characterized by prolonged muscle tensing (myotonia) as well as muscle weakness, pain, and stiffness. Signs and symptoms usually develop during a person's twenties or thirties. Muscles in the neck, fingers, elbows, and hips are typically affected; facial and ankle muscles are less commonly involved.[1] The severity of myotonic dystrophy type 2 varies widely among affected people, even among family members.[2] It is inherited in an autosomal dominant pattern and is caused by mutations in the CNBP gene.[2] Treatment is based on each person's specific signs and symptoms.
Last updated: 2/10/2014

References

  1. Dalton JC, Ranum LPW, Day JW. Myotonic Dystrophy Type 2. GeneReviews. April 23, 2007; http://www.ncbi.nlm.nih.gov/books/NBK1466/. Accessed 4/8/2012.
  2. Learning About Myotonic Dystrophy. National Human Genome Research Institute (NHGRI). March 23, 2011; http://www.genome.gov/25521207. Accessed 4/8/2012.
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Basic Information

  • Genetics Home Reference (GHR) contains information on the P2RY12 gene and its related conditions. This website is maintained by the National Library of Medicine.
  • The Muscular Dystrophy Association (MDA) provides additional information about myotonic dystrophy. Click on the link to view this information.
  • Myotonic Dystrophy Foundation provides additional information about Myotonic dystrophy type 2.
  • 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.

In Depth Information

  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Myotonic dystrophy type 2. Click on the link to view a sample search on this topic.

Selected Full-Text Journal Articles

Other Names for this Disease
  • DM2
  • Dystrophia myotonica type 2
  • Myotonic myopathy, proximal
  • PROMM
  • Proximal myotonic dystrophy
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.