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Myotonic dystrophy type 1
Other Names for this Disease
- Dystrophia myotonica type 1
- Steinert disease
- Steinert myotonic dystrophy
- Steinert's disease
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Myotonic dystrophy type 1, 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). Myotonic dystrophy type 1 has been categorized into three somewhat overlapping subtypes: mild, classic, and congenital (present at birth). Symptoms of the mild form are the least severe with a normal life span. The classic form is characterized by muscle weakness and wasting, prolonged muscle tensing (myotonia), cataract, and often abnormal heart function; adults may become physically disabled and may have a shortened life span. The congenital form is characterized by severe generalized weakeness at birth (hypotonia), often causing complications with breathing and early death. The condition is inherited in an autosomal dominant pattern and is caused by mutations in the DMPK gene. 
Last updated: 5/11/2011
- Myotonic Dystrophy. Genetics Home Reference. November 2010; http://ghr.nlm.nih.gov/condition/myotonic-dystrophy. Accessed 2/16/2011.
- Bird, T. Myotonic Dystrophy Type 1. GeneReviews. February 8, 2011; http://www.ncbi.nlm.nih.gov/books/NBK1165/. Accessed 5/11/2011.
- Genetics Home Reference (GHR) contains information on Myotonic dystrophy type 1. 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 1.
- 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.
In Depth Information
- The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Myotonic dystrophy type 1. 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 type 1. 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.