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Oculopharyngeal muscular dystrophy

Other Names for this Disease
  • Muscular dystrophy, oculopharyngeal
  • OPMD
More Names
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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]


References

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

  • Genetics Home Reference (GHR) contains information on Oculopharyngeal muscular dystrophy. Click on the link to go to GHR and review the information.
  • The Muscular Dystrophy Association (MDA) provides additional information about oculopharyngeal muscular dystrophy in their publications entitled, Facts About Rare Muscular Dystrophies and Oculopharyngeal Muscular Dystrophy (OPMD). Click on the links to view this information.
  • 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.
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.  Click on the link to read information on this topic.
  • 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.
  • The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Oculopharyngeal muscular dystrophy. Click on the link to go to OMIM and review these resources.