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Oculopharyngeal muscular dystrophy
Other Names for this Disease
- Muscular dystrophy, oculopharyngeal
 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. Both types are caused by mutations in the PABPN1 gene.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.
Last updated: 5/2/2012
- 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.
- Oculopharyngeal muscular dystrophy. Genetics Home Reference (GHR). December 2008; http://ghr.nlm.nih.gov/condition=oculopharyngealmusculardystrophy. Accessed 12/8/2008.
- Facts About Rare Muscular Dystrophies. Muscular Dystrophy Association (MDA). June 2008; http://www.mda.org/publications/fa-rareMD.html. Accessed 12/7/2008.
- Genetics Home Reference (GHR) contains information on Oculopharyngeal muscular dystrophy. This website is maintained by the National Library of Medicine.
- 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.
In Depth Information
- 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.
- 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.