Oculopharyngeal muscular dystrophy
Other Names for this Disease
- 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?
- How might oculopharyngeal muscular dystrophy impact my life?
- What causes oculopharyngeal muscular dystrophy?
- How is oculopharyngeal muscular dystrophy 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?
There are many signs and symptoms of oculopharyngeal muscular dystrophy (OPMD), although the specific symptoms and age of onset varies among affected individuals. Most people show one or more symptoms by the age of 70. The most common symptoms of OPMD include:
- Muscle weakness (also known as myopathy)
- Droopy eyelids (also known as ptosis)
- Difficulty swallowing (also known as dysphagia)
- Double vision
- Tongue weakness
- Upper and/or lower body weakness
- Weakness of the muscles in the face
- Voice disorders (in about half of people with this condition)
To function correctly, each cell in our body depends on thousands of proteins to do their jobs in the right places at the right times. Sometimes, a change (mutation) in a gene can prevent one or more of these proteins from working properly. This can cause a medical condition. A condition caused by mutations in one or more genes is called a genetic disorder.
Oculopharyngeal muscular dystrophy is a genetic disorder. It is caused by mutations in a gene called PABPN1.
You can learn more about how gene changes can cause disease at the following Web site developed by the Genetics Home Reference: Your Guide to Understanding Genetic Conditions, a service of the U.S. National Library of Medicine.
There are two forms oculopharyngeal muscular dystrophy and each form is inherited in a different way. The most common form of this disease is inherited in a “dominant” pattern.
“Dominant” generally refers to a condition that occurs in people with one copy of the gene mutation. The gene mutation can be inherited from a parent or happen by chance for the first time in the person.
The other form of this disease is inherited in a “recessive” pattern. “Recessive” typically refers to a condition that occurs only in people with two copies of the gene mutation (one inherited from their mother and one from their father).
In the United States, the number of people with oculopharyngeal muscular dystrophy is not known, however most of them are of French-Canadian, Ashkenazi Jewish, or Spanish American background; however people of any ethnic background can develop this condition.
The National Institutes of Health, through the National Library of Medicine, developed ClinicalTrials.gov to provide patients, family members, and members of the public with current information on clinical research studies. Currently, there are two research studies listed involving oculopharyngeal muscular dystrophy. One is completed and the other is no longer enrolling patients. However, we have included the names of the two studies below. If you are interested, click on the link to view information about this research.
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 general information on clinical trials at the following ClinicalTrials.gov Web page.
A tutorial about clinical trials that can also help answer your questions can be found at the following link from the National Library of Medicine.
Resources on many charitable or special-fare flights to research and treatment sites and low-cost hospitality accommodations for outpatients and family members, as well as ambulance services, are listed on the Web site of the Office of Rare Diseases (ORD), part of the National Institutes of Health.
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.
- Braise B, Rouleau GA. Oculopharyngeal muscular dystrophy. Gene Reviews. 2006; http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=opmd#opmd. Accessed 2/4/2009.
- Urtizberea JA. Oculopharyngeal muscular dystrophy. Orphanet Encyclopedia. 2004; http://www.orpha.net/data/patho/GB/uk-OPMD.pdf. Accessed 2/4/2009.
- Oculopharyngeal muscular dystrophy. Genetics Home Reference. 2008; http://ghr.nlm.nih.gov/condition=oculopharyngealmusculardystrophy. Accessed 2/4/2009.
- Muscular Dystrophy, Oculopharyngeal. NORD. April 10, 2008; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1182/viewAbstract. Accessed 5/2/2012.
- NINDS Chronic Inflammatory Demyelinating Polyneuropathy (CIDP) Information Page. National Institute of Neurological Disorders and Stroke. 2008; http://www.ninds.nih.gov/disorders/cidp/cidp.htm. Accessed 2/11/2009.