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

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
Show More Content Like This

More Overview Content

Are there other names for Oculopharyngeal muscular dystrophy?

How common is Oculopharyngeal muscular dystrophy?

Are there other names for Oculopharyngeal muscular dystrophy?

Oculopharyngeal muscular dystrophy is sometimes shortened to "OPMD".

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.
How common is Oculopharyngeal muscular dystrophy?

The prevalence of OPMD depends on the intheritance pattern of the disease:

  • Autosomal Dominant -
  • Is seen most commonly in Bukhara Jews living in Israel (1 in 600 individuals are affected)
  • It is also seen among the French Canadian population (1 in 1000 individuals are affected)
  • It is estimated to affect 1 in 100,000 people of French descent
  • A number of other ethnic backgrounds may be affected including Ashkenazi Jews and Spanish Americans
  • The autosomal dominant form of the disease has been seen in people from over 30 countries
  • Autosomal Recessive -
  • It is predicted that 1 in 10,000 individuals of French, Canadian (Quebec), and Japanese ancestry are affected with OPMD
References
  • National Library of Medicine (US). Genetics Home Reference [Internet]. Bethesda (MD): The Library; Oculopharyngeal Muscular Dystrophy
  • 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.

We use cookies to ensure that we give you the best experience on our website. By continuing to browse this site, you are agreeing to our use of cookies.

Continue Find out more about our use of cookies and similar technology

This content comes from a hidden element on this page.

The inline option preserves bound JavaScript events and changes, and it puts the content back where it came from when it is closed.

Remember Me