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 TD. 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) website has an information page on this topic. NHGRI is part of the National Institutes of Health and supports research on the structure and function of the human genome and its role in health and disease.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- 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 1. Click on the link to view a sample search on this topic.
- Mulders SAM et al., Molecular therapy in myotonic dystrophy: Focus on RNA gain-of-function. Human Molecular Genetics. 2010:19(1):R90-R97.