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Myotonic dystrophy type 2
Other Names for this Disease
- Dystrophia myotonica type 2
- Myotonic myopathy, proximal
- Proximal myotonic myopathy
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 during the twenties or thirties. Muscles in the neck, fingers, elbows, and hips are typically affected by this condition. Facial and ankle muscles may also be affected but are less commonly involved. The severity of myotonic dystrophy type 2 varies widely among affected individuals, even among family members. The condition is inherited in an autosomal dominant pattern and is caused by mutations in the CNBP gene. Treatment is based on the individual's specific signs and symptoms.Myotonic dystrophy type 2, one of the two types of
Last updated: 4/8/2012
- 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.
- Learning About Myotonic Dystrophy. National Human Genome Research Institute (NHGRI). March 23, 2011; http://www.genome.gov/25521207. Accessed 4/8/2012.
On this page
- Genetics Home Reference (GHR) contains information on Myotonic dystrophy type 2. This website is maintained by the National Library of Medicine.
- 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 Muscular Dystrophy Association (MDA) provides additional information about myotonic dystrophy. Click on the link to view this information.
In Depth Information
- The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Myotonic dystrophy type 2. Click on the link to go to OMIM and review these resources.
- 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
- Mulders SAM et al., Molecular therapy in myotonic dystrophy: Focus on RNA gain-of-function. Human Molecular Genetics. 2010:19(1):R90-R97.