Oculopharyngeal muscular dystrophy

Overview

What is Oculopharyngeal muscular dystrophy?

Oculopharyngeal muscular dystrophy (OPMD) is a genetic condition which affects the muscles. Typically, affected individuals will experience symptoms in adulthood; usually after age 40. OPMD is a progressive disorder, meaning the symptoms worsen as a person ages.

Oculo - means related to the eyes. This refers to the droopy eyelids (ptosis) experienced by individuals with OPMD

Pharyngeal - means related to the pharynx. The pharynx is the part of the throat that help you swallow. People with OPMD have difficulty swallowing because of problems with the pharynx.

Muscular dystrophy - means weakening of the muscles. Individuals with OPMD have muscle weakness, especially of the eyes and throat, which causes the symptoms seen in the disorder.

The most common early symptoms are -

  • Drooping eyelids (ptosis)
  • Difficulty swallowing (dysphagia)

As the symptoms progress, some affected individuals may experience -

  • Tongue weakness
  • Weakness of the arms and legs
  • Difficulty looking upward
  • Facial muscle weakness

In more severe cases of OPMD, these symptoms may occur before age 45. Some individuals with severe involvement eventually need a wheelchair.

Learn more about the symptoms in the "Symptoms" section of our content.

In the United States, you can find a genetic counselor in your area by using the National Society of Genetic Counselors webpage

SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/oculopharyngeal-muscular-dystrophy-109943/overview/67214 • DATE UPDATED: 2019-01-07

References

Trollet C, Gidaro T, Klein P, et al. Oculopharyngeal Muscular Dystrophy. 2001 Mar 8 [Updated 2014 Feb 20]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.

National Library of Medicine (US). Genetics Home Reference [Internet]. Bethesda (MD): The Library; Oculopharyngeal Muscular Dystrophy

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