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
- Linhartova 1
- SI-1000 Ljubljana
- Slovenia, GAR 04
- Tel: 386 (0)1 47 20 500
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- Website: http://www.eamda.eu/
Genetic and Rare Diseases (GARD) Information Center
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- Gaithersburg, MD 20898-8126
- Tel: (301)251-4925
- Fax: (301)251-4911
- Tel: (888)205-2311
- Website: http://rarediseases.info.nih.gov/GARD/
March of Dimes
- 1275 Mamaroneck Avenue
- White Plains, NY 10605
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- Email: AskUs@marchofdimes.org or firstname.lastname@example.org
- Website: http://www.marchofdimes.org and nacersano.org
Muscular Dystrophy Association
- 3300 East Sunrise Drive
- Tucson, AZ 85718-3208
- Tel: (520)529-2000
- Fax: (520)529-5300
- Tel: (800)572-1717
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- Website: http://www.mda.org/
Muscular Dystrophy Campaign
- 61 Southwark Street
- London, SE1 0HL
- United Kingdom
- Tel: 2078034800
- Email: firstname.lastname@example.org
- Website: http://www.muscular-dystrophy.org
NIH/National Institute of Neurological Disorders and Stroke
- P.O. Box 5801
- Bethesda, MD 20824
- Tel: (301)496-5751
- Fax: (301)402-2186
- Tel: (800)352-9424
- Website: http://www.ninds.nih.gov/
Society for Muscular Dystrophy Information International
- P.O. Box 7490
- Nova Scotia, B4V 2X6
- Tel: 9026853961
- Fax: 9026853962
- Email: email@example.com
- 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".
The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only.
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This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Last Updated: 11/6/2012
Copyright 2012 National Organization for Rare Disorders, Inc.
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