Oculopharyngeal Muscular Dystrophy
National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Oculopharyngeal Muscular Dystrophy is not the name you expected.
Oculopharyngeal muscular dystrophy (OPMD) is a rare genetic muscle disorder with onset during adulthood most often between 40 and 60 years of age. OPMD is characterized by slowly progressive muscle disease (myopathy) affecting the muscles of the upper eyelids and the throat. Affected individuals may develop drooping of the eyelids (ptosis), trouble moving their eyes (ophthalmoplegia) and/or difficulty swallowing (dysphagia). Double vision (diplopia) is uncommon. Eventually, additional muscles may become involved including those of the upper legs and arms (proximal limb weakness). In some cases, muscle weakness of the legs may eventually cause difficulty walking. OPMD may be inherited as an autosomal dominant or recessive trait.
OPMD belongs to a group of rare genetic muscle disorders known as the muscular dystrophies. These disorders are characterized by weakness and atrophy of various voluntary muscles of the body. Approximately 30 different disorders make up the muscular dystrophies. The disorders affect different muscles and have different ages of onset, severity and inheritance patterns. Unlike OPMD, most forms of muscular dystrophy have onset during childhood or adolescence.
European Alliance of Neuromuscular Disorders Associations
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Genetic and Rare Diseases (GARD) Information Center
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March of Dimes
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Muscular Dystrophy Association
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- Tucson, AZ 85718-3208
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Muscular Dystrophy Campaign
- 61 Southwark Street
- London, SE1 0HL
- United Kingdom
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- Website: http://www.muscular-dystrophy.org
NIH/National Institute of Neurological Disorders and Stroke
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- Website: http://www.ninds.nih.gov/
Society for Muscular Dystrophy Information International
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- Nova Scotia, B4V 2X6
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- Website: http://www.nsnet.org/smdi/
For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
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Last Updated: 11/6/2012
Copyright 2012 National Organization for Rare Disorders, Inc.
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