Oculopharyngeal muscular dystrophy
- Muscular dystrophy, oculopharyngeal
Your QuestionMy 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.
We have identified the following information that we hope you find helpful. If you still have questions, please contact us.
Questions on this page
- How is oculopharyngeal muscular dystrophy inherited?
- Is genetic testing available for oculopharyngeal muscular dystrophy?
- Should individuals with a relative affected with oculopharyngeal muscular dystrophy be tested for the condition?
- How might oculopharyngeal muscular dystrophy be treated?
- In which populations does oculopharyngeal muscular dystrophy occur?
- How can I find a genetics professional in my area?
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. 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%.
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.
The following online resources can help you find a genetics professional in your community:
- The National Society of Genetic Counselors provides a searchable directory of US and international genetic counseling services.
- The American College of Medical Genetics has a searchable database of US genetics clinics.
- The University of Kansas Medical Center provides a list of US and international genetic centers, clinics, and departments.
- The American Society of Human Genetics maintains a database of its members, which includes individuals who live outside of the United States. Visit the link to obtain a list of the geneticists in your country, some of whom may be researchers that do not provide medical care.
- Oculopharyngeal muscular dystrophy. Genetics Home Reference (GHR). December 2008; http://ghr.nlm.nih.gov/condition=oculopharyngealmusculardystrophy. Accessed 12/8/2008.
- Bernard Brais, M Phil, and Guy A Rouleau. Oculopharyngeal Muscular Dystrophy. GeneReviews. June 22, 2006; http://www.ncbi.nlm.nih.gov/books/NBK1126/. Accessed 5/2/2012.
- Muscular Dystrophy, Oculopharyngeal. NORD. April 10, 2008; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1182/viewAbstract. Accessed 5/2/2012.