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Myotonic dystrophy
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Overview
Myotonic dystrophy is an inherited condition that affects 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 condition is characterized by progressive muscle loss 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]
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
- Myotonic dystrohpy. Genetics Home Reference (GHR). http://ghr.nlm.nih.gov/condition=myotonicdystrophy. Accessed July 15, 2011.
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On this page
General Information
- Genetics Home Reference (GHR) contains information on Myotonic dystrophy. Click on the link to go to GHR and review the information.
- The Merck Manuals Online Medical Library provides information on this condition. Click on the link to view the information.
- The Muscular Dystrophy Association (MDA) provides additional information about myotonic dystrophy. Click on the link to view this information.
- The National Center for Biotechnology Information (NCBI) was established in 1988 as a national resource for molecular biology information. Click on the link to view information on this topic.
- 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.
- 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.
- The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss the different types of myotonic dystrophy. Click on the links below to go to OMIM and review these resources.
Myotonic dystrophy type 1
Myotonic dystrophy type 2
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.