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Genetic and Rare Diseases Information Center (GARD)

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Myotonic dystrophy type 1


Other Names for this Disease

  • DM1
  • Dystrophia myotonica type 1
  • Steinert disease
  • Steinert myotonic dystrophy
  • Steinert's disease
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Overview

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).[1]  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. [2]
Last updated: 5/11/2011

References

  1. Myotonic Dystrophy. Genetics Home Reference. November 2010; http://ghr.nlm.nih.gov/condition/myotonic-dystrophy. Accessed 2/16/2011.
  2. Bird, T. Myotonic Dystrophy Type 1. GeneReviews. February 8, 2011; http://www.ncbi.nlm.nih.gov/books/NBK1165/. Accessed 5/11/2011.
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Basic Information

In Depth Information

  • 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.

Selected Full-Text Journal Articles

Other Names for this Disease
  • DM1
  • Dystrophia myotonica type 1
  • Steinert disease
  • Steinert myotonic dystrophy
  • Steinert's disease
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.