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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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Your Question

My father may have this disease. Should I be tested? Where? How? If this is caught early can anything be done about it? What treatment opportunities are there? Is this limited to French Canadians? We cannot trace our genealogy back to French Canada but we do know that some of our ancestors came from Europe.

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

How is oculopharyngeal muscular dystrophy inherited?

Most cases of oculopharyngeal muscular dystrophy (OPMD) are inherited in an autosomal dominant manner, which means one copy of the altered (mutated) gene in each cell is sufficient to cause the condition. Individuals have two copies of each gene; one copy having been inherited from each parent. An individual with the autosomal dominant form of OPMD may have inherited the condition from an affected parent, or less commonly, the condition may occur for the first time in the affected individual. Each child of an affected individual with this form of OPMD has a 50% (1 in 2) chance to be affected and a 50% chance to be unaffected.

Less commonly, OPMD is inherited in an autosomal recessive manner, which means that both copies of the disease-causing gene in each cell must have a mutation for an individual to be affected. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene (and are referred to as carriers), but they typically do not show signs and symptoms of the condition.[1] When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) chance to be affected, a 50% (1 in 2) chance to be a carrier like each of the parents, and a 25% chance to be unaffected and not be a carrier. The children of an individual with autosomal recessive OPMD will always be carriers (obligate heterozygotes) for the disease-causing mutation. The risk of a child being affected if his/her parent has autosomal recessive OPMD is less than 1%.[2]

Last updated: 5/2/2012

Is genetic testing available for oculopharyngeal muscular dystrophy?

Genetic testing is available for oculopharyngeal muscular dystrophy (OPMD). GeneTests lists the names of laboratories that are performing genetic testing for this condition. To view the contact information for the clinical laboratories conducting testing click here. Please note that most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, individuals that are interested in learning more will need to work with a health care provider or a genetics professional.
Last updated: 5/2/2012

Should individuals with a relative affected with oculopharyngeal muscular dystrophy be tested for the condition?

Oculopharyngeal muscular dystrophy (OPMD) is inherited in either an autosomal dominant or an autosomal recessive manner. More detailed information about the inheritance of OPMD can be viewed on our Web site by clicking here.

An individual who may be at risk for having inherited a mutation for OPMD may benefit from learning the type of OPMD that is present in the family, if possible. Furthermore, there are various considerations when contemplating having genetic testing for an adult- or late-onset condition (known as predictive testing). More information about predictive testing, including points to consider, can be viewed by clicking here. Genetic counseling is recommended for asymptomatic individuals seeking information about predictive testing for this condition.
Last updated: 5/2/2012

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.[3]
Last updated: 5/2/2012

In which populations does oculopharyngeal muscular dystrophy occur?

Oculopharyngeal muscular dystrophy (OPMD) affects males and females in equal numbers.[3] The condition has been reported in over 30 countries.[2] The prevalence of autosomal dominant OPMD has been estimated to be 1 in 100,000 in France, 1 in 1000 in the French-Canadian population of the province of Quebec, and 1 in 600 among Bukhara Jews living in Israel.[2] In the United States, the majority of affected individuals are of French-Canadian descent, although a large number are also of other backgrounds including Jewish Ashkenazi and Spanish American in Texas and California.[2]  The predicted prevalence of the autosomal recessive form is estimated to be about 1 in 10,000 in France, Quebec, and Japan.[2]
Last updated: 5/2/2012

How can I find a genetics professional in my area?

Genetics clinics are a source of information for individuals and families regarding genetic conditions, treatment, inheritance, and genetic risks to other family members. More information about genetic consultations is available from Genetics Home Reference. To find a genetics clinic, we recommend that you contact your primary healthcare provider for a referral.

The following online resources can help you find a genetics professional in your community:
Last updated: 10/18/2013