Oculopharyngeal muscular dystrophy
- Muscular dystrophy, oculopharyngeal
Your QuestionWhat kind of disease is this? What impact will it have on my life? Where did it come from? I don't understand how I got this 'rare' disease and don't know anything about it. Could you please help me understand? I would like to be in a research study. How can I find one?
We have identified the following information that we hope you find helpful. If you still have questions, please contact us.
Questions on this page
- What is oculopharyngeal muscular dystrophy?
- What are the signs and symptoms of oculopharyngeal muscular dystrophy (OPMD)?
- How might oculopharyngeal muscular dystrophy impact my life?
- What causes oculopharyngeal muscular dystrophy (OPMD)?
- How is oculopharyngeal muscular dystrophy (OPMD) inherited?
- How rare is oculopharyngeal muscular dystrophy?
- How might oculopharyngeal muscular dystrophy be treated?
- Where can I find information about participating in a clinical trial?
- How can I find a genetics professional in my area?
Individuals with OPMD may also have double vision (diplopia) and frequently have weakness in the muscles near the center of the body (proximal muscles), particularly muscles in the upper legs and hips. The weakness progresses slowly over time, and people may need the aid of a cane or a walker. Rarely, affected individuals need wheelchair assistance.
Typically the life expectancy of people with this condition is not reduced. Some people with oculopharyngeal muscular dystrophy may need a cane or a walker as the disease worsens over time. Rarely, an individual may need a wheelchair due to severe lower body muscle weakness.
The PABPN1 gene contains a section of DNA called a GCN repeat, which normally repeats around 10 times. In cases of OPMD, this section of DNA is repeated 11-17 times. This results in extra production of a protein called alanine. The extra alanine causes the PABPN1 protein to form clumps within muscle cells that cannot be broken down. These clumps are thought to impair the normal function of muscle cells and eventually cause cells to die. The progressive loss of muscle cells most likely causes the muscle weakness seen in people with OPMD. It is not known why abnormal PABPN1 proteins seem to affect muscle cells in only certain parts of the body.
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%.
The autosomal recessive form of OPMD is estimated to occur in 1 in 10,000 individuals in France, Quebec, and Japan. This estimate is based the number of individuals found to be carriers in these populations (carrier frequency).
You can also contact the Patient Recruitment and Public Liaison (PRPL) Office at the National Institutes of Health (NIH). We recommend calling the toll-free number listed below to speak with a specialist, who can help you determine if you are eligible for any other clinical trials.
Patient Recruitment and Public Liaison Office (PRPL)
NIH Clinical Center
Bethesda, Maryland 20892-2655
Web site: http://clinicalcenter.nih.gov/
If you are interested in enrolling in a clinical trial, you can find helpful information on our get involved in research page.
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:
- GeneTests has a searchable directory of US and international genetics and prenatal diagnosis clinics.
- 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.
- Michael Lee. Muscular Dystrophy, Oculopharyngeal. National Organization for Rare Disorders (NORD). 2012; http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Muscular%20Dystrophy%2C%20Oculopharyngeal.
- Oculopharyngeal muscular dystrophy. Genetics Home Reference (GHR). December 2008; https://ghr.nlm.nih.gov/condition/oculopharyngeal-muscular-dystrophy.
- Pr John VISSING. Oculopharyngeal muscular dystrophy. Orphanet. May 2016; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=270.
- Capucine Trollet, Teresa Gidaro, Pierre Klein, Sophie Périé, Gillian Butler-Browne, Jean Lacau St Guily. Oculopharyngeal muscular dystrophy. GeneReviews. Februaru 20, 2014; http://www.ncbi.nlm.nih.gov/books/NBK1126/.
- Urtizberea JA. Oculopharyngeal muscular dystrophy. Orphanet Encyclopedia. 2004; http://www.orpha.net/data/patho/GB/uk-OPMD.pdf.
- Muscular Dystrophy, Oculopharyngeal. NORD. April 10, 2008; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1182/viewAbstract. Accessed 5/2/2012.