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Genetic and Rare Diseases Information Center (GARD)

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Oculopharyngeal muscular dystrophy


Other Names for this Disease
  • Muscular dystrophy, oculopharyngeal
  • OPMD
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Overview


Oculopharyngeal muscular dystrophy (OPMD) is a genetic muscle disorder with onset during adulthood, most often between 40 and 60 years of age. This condition is characterized by slowly progressive muscle disease (myopathy) affecting the muscles of the upper eyelids and the throat.[1] There are two types of OPMD, which are distinguished by their patterns of inheritance. They are known as the autosomal dominant and autosomal recessive types.[2] Both types are caused by mutations in the PABPN1 gene.[1][2][3]
Last updated: 5/2/2012

References

  1. McLoon L, Lee M. Muscular Dystrophy, Oculopharyngeal. National Organization for Rare Disorders (NORD). 2007; http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Muscular%20Dystrophy%2C%20Oculopharyngeal. Accessed 12/7/2008.
  2. Oculopharyngeal muscular dystrophy. Genetics Home Reference (GHR). December 2008; http://ghr.nlm.nih.gov/condition=oculopharyngealmusculardystrophy. Accessed 12/8/2008.
  3. Facts About Rare Muscular Dystrophies. Muscular Dystrophy Association (MDA). June 2008; http://www.mda.org/publications/fa-rareMD.html. Accessed 12/7/2008.
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Basic Information

In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is an 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 Oculopharyngeal muscular dystrophy. Click on the link to view a sample search on this topic.