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Diseases

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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Treatment


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How might oculopharyngeal muscular dystrophy be treated?

Treatment of oculopharyngeal muscular dystrophy (OPMD) mainly focuses on the specific signs and symptoms present in each individual. Severe drooping of the eyelid (ptosis) may be treated with plastic surgery on the eyelid (blepharoplasty). The goal of this surgery is to raise the eyelid so that the affected individual can see. Individuals with severe difficulty swallowing (dysphagia) may have a surgical procedure known as cricopharyngeal myotomy. In this procedure, the cricopharyngeal muscle of the throat is cut so that when swallowing occurs, the muscle remains relaxed allowing the passage of food or liquid. Orthopedic devices such as canes, leg braces, or walkers can assist individuals who have difficulty walking. Other treatment is symptomatic and supportive.[1]
Last updated: 5/2/2012

References
  1. Muscular Dystrophy, Oculopharyngeal. NORD. April 10, 2008; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1182/viewAbstract. Accessed 5/2/2012.


Management Guidelines

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. Click on the link to view the article on this topic.

Clinical Trials & Research for this Disease

  • ClinicalTrials.gov lists trials that are studying or have studied Oculopharyngeal muscular dystrophy. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.
  • The Research Portfolio Online Reporting Tool (RePORT) provides access to reports, data, and analyses of research activities at the National Institutes of Health (NIH), including information on NIH expenditures and the results of NIH-supported research. Although these projects may not conduct studies on humans, you may want to contact the investigators to learn more. To search for studies, click on the link and enter the disease name in the "Terms Search" box. Then click "Submit Query".