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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
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Your Question

What 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?

Our Answer

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

What is oculopharyngeal muscular dystrophy?

Oculopharyngeal muscular dystrophy is an inherited (genetic) condition. Most often it appears in people when they are in their 40's to 60's. The condition mainly affects the body's muscles.
Last updated: 2/17/2009

What are the signs and symptoms of oculopharyngeal muscular dystrophy?

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.[1]  The most common symptoms of OPMD include:[2]

  • 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)
Last updated: 5/2/2012

How might oculopharyngeal muscular dystrophy impact my life?

It is impossible to predict exactly how oculopharyngeal muscular dystrophy will impact your life. Typically the life expectancy of people with this condition is not reduced.[1]  Some people with oculopharyngeal muscular dystrophy may need a cane or a walker as the disease worsens over time.[3]  In less than 10% of cases, an person may need a wheelchair due to severe lower body muscle weakness.[2]
Last updated: 2/17/2009

What causes oculopharyngeal muscular dystrophy?

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.   
http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/mutationscausedisease

Last updated: 2/17/2009

How is oculopharyngeal muscular dystrophy inherited?

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.[2]  

“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).

 

Last updated: 2/17/2009

How rare is oculopharyngeal muscular dystrophy?

The “dominant” form of this disease is most common in the French-Canadian population of the province Quebec, where an estimated 1 person in 1,000 is affected.

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.[1]
Last updated: 2/17/2009

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.[4]
Last updated: 5/2/2012

Where can I find information about participating in a clinical trial?

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.

Treatment of Dysphagia in Oculopharyngeal Muscular Dystrophy by Autologous Transplantation of Myoblasts

Study of Muscle Abnormalities in Patients With Specific Genetic Mutations

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
Toll-free: 800-411-1222
Fax: 301-480-9793
Email: prpl@mail.cc.nih.gov
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.
http://clinicaltrials.gov/ct2/info/understand

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.
http://www.nlm.nih.gov/medlineplus/tutorials/cancerclinicaltrials/htm/lesson.htm

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.
http://rarediseases.info.nih.gov/Resources.aspx?PageID=8

Last updated: 2/17/2009

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: 6/22/2012

References
Other Names for this Disease
  • Muscular dystrophy, oculopharyngeal
  • OPMD
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.