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Myotonic dystrophy type 2
Other Names for this Disease
- DM2
- Dystrophia myotonica type 2
- Myotonic myopathy, proximal
- PROMM
- Proximal myotonic myopathy
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Overview
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 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.[1] The severity of myotonic dystrophy type 2 varies widely among affected individuals, even among family members.[2] The condition is inherited in an autosomal dominant pattern and is caused by mutations in the CNBP gene.[2] Treatment is based on the individual's specific signs and symptoms.
References
- Dalton JC, Ranum LPW, Day JW. Myotonic Dystrophy Type 2. GeneReviews. http://www.ncbi.nlm.nih.gov/books/NBK1466/. Accessed April 8, 2012.
- Learning About Myotonic Dystrophy. National Human Genome Research Institute (NHGRI). http://www.genome.gov/25521207. Accessed April 8, 2012.
Your Questions Answered
by the Genetic and Rare Diseases Information Center2 question(s) from the public on Myotonic dystrophy type 2 have been answered. See questions and answers. You can also submit a new question.
On this page
General Information
- Genetics Home Reference (GHR) contains information on Myotonic dystrophy type 2. Click on the link to go to GHR and review the information.
- 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.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
- 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.
- The 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.
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.