National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Oculopharyngeal muscular dystrophy

Oculopharyngeal muscular dystrophy (OPMD) is a genetic disorder characterized by slowly progressing muscle disease (myopathy) affecting the muscles of the upper eyelids and the throat. Onset is typically during adulthood, most often between 40 and 60 years of age. Symptoms may include: eyelid drooping (ptosis), arm and leg weakness, and difficulty swallowing (dysphagia).[1] There are two types of OPMD, distinguished by their patterns of inheritance. They are known as the autosomal dominant and autosomal recessive types.[2] Both types are caused by mutations in the PABPN1 gene.[1][2]Treatment depends on the signs and symptoms present in each individual. Ptosis and dysphagia can be managed with surgery; however, recurrence of symptoms commonly occurs 5-15 years after intervention.[1][3]
Last updated: 6/14/2016
OPMD is characterized by muscle weakness that begins in adulthood, typically after age 40. The first symptom in people with this disorder is usually droopy eyelids (ptosis), followed by difficulty swallowing (dysphagia). The swallowing difficulties begin with food, but as the condition progresses, liquids can be difficult to swallow as well. Many people with this condition have weakness and wasting (atrophy) of the tongue. These problems with food intake may cause malnutrition. Some affected individuals also have weakness in other facial muscles.[1][2][3][4]

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.[1][2][3][4]
Last updated: 6/15/2016

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormality of the pharynx 0000600
Elevated serum creatine kinase
Elevated blood creatine phosphokinase
Elevated circulating creatine phosphokinase
Elevated creatine kinase
Elevated serum CPK
Elevated serum creatine phosphokinase
High serum creatine kinase
Increased CPK
Increased creatine kinase
Increased creatine phosphokinase
Increased serum CK
Increased serum creatine kinase
Increased serum creatine phosphokinase
[ more ] 		0003236
Myopathy
Muscle tissue disease
0003198
Ophthalmoplegia
Eye muscle paralysis
0000602
Ptosis
Drooping upper eyelid
0000508
Ragged-red muscle fibers 0003200
Rimmed vacuoles 0003805
Spondylolisthesis
Displacement of one backbone compared to another
Slipped backbone
[ more ] 		0003302
5%-29% of people have these symptoms
Mask-like facies
Expressionless face
Lack of facial expression
Mask-like facial appearance
[ more ] 		0000298
Percent of people who have these symptoms is not available through HPO
Adult onset
Symptoms begin in adulthood
0003581
Autosomal dominant inheritance 0000006
Distal muscle weakness
Weakness of outermost muscles
0002460
Dysarthria
Difficulty articulating speech
0001260
Dysphagia
Poor swallowing
Swallowing difficulties
Swallowing difficulty
[ more ] 		0002015
Facial palsy
Bell's palsy
0010628
Gait disturbance
Abnormal gait
Abnormal walk
Impaired gait
[ more ] 		0001288
Limb muscle weakness
Limb weakness
0003690
Neck muscle weakness
Floppy neck
0000467
Progressive
Worsens with time
0003676
Progressive ptosis
Progressive drooping of upper eyelid
0007838
Proximal muscle weakness
Weakness in muscles of upper arms and upper legs
0003701
Showing of 21 |
Last updated: 7/1/2020
OPMD is caused by mutations in the PABPN1 gene. The PABPN1 gene provides instructions for making the PABPN1 protein that is active (expressed) throughout the body. In cells, the PABPN1 protein plays an important role in processing molecules called messenger RNAs (mRNAs), which serve as genetic blueprints for making proteins. The protein acts to protect the mRNA from being broken down and allows it to move within the cell.[2][4]

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 the protein having too many of an amino acid 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.[2][4]
Last updated: 6/15/2016
Most cases of 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.[2][4] 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.[2] 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%.[4]
Last updated: 6/15/2016
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

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
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.[1][4]
Last updated: 6/15/2016
The autosomal dominant form of oculopharyngeal muscular dystrophy (OPMD) is most common among a population of Bukharan Jews living in Israel, where an estimated 1 person in 600 is affected. OPMD is additionally estimated to occur in 1 in 1000 individuals of French-Canadian ancestry and 1 in 100,000 individuals in France. In the United States, the number of people with OPMD is not known, however the majority of diagnosed individuals are of French-Canadian, Ashkenazi Jewish, or Spanish American background.[4]

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).[4]
Last updated: 7/13/2016

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Differential diagnoses include oculopharyngodistal myopathy, myasthenia gravis, Steinert myotonic dystrophy, proximal myotonic myopathy, congenital fibrosis of extraocular muscles, blepharophimosis-epicanthus inversus-ptosis syndrome (see these terms), autosomal dominant distal myopathy, and mitochondrial myopathy.
Visit the Orphanet disease page for more information.

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Oculopharyngeal muscular dystrophy. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.
  • The Research Portfolio Online Reporting Tool (RePORT) provides access to reports, data, and analyses of research activities at the National Institutes of Health (NIH), including information on NIH expenditures and the results of NIH-supported research. Although these projects may not conduct studies on humans, you may want to contact the investigators to learn more. To search for studies, enter the disease name in the "Text Search" box. Then click "Submit Query".

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • Genetics Home Reference (GHR) contains information on Oculopharyngeal muscular dystrophy. This website is maintained by the National Library of Medicine.
  • The Muscular Dystrophy Association (MDA) provides additional information about oculopharyngeal muscular dystrophy in their publication entitled, Oculopharyngeal Muscular Dystrophy (OPMD)
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
    Orphanet
    Orphanet
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Oculopharyngeal muscular dystrophy. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new 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. See answer

  • 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? See answer

  • My husband has a family history of oculopharyngeal muscular dystrophy. I am worried that he may be affected. Can the symptoms of this condition occur at earlier ages in susequent generations? Could this condition affect sperm mobility? What are the chances that a child we have together could be affected?  See answer


  1. Lee M. Oculopharyngeal Muscular Dystrophy. National Organization for Rare Disorders (NORD). 2012; https://rarediseases.org/rare-diseases/oculopharyngeal-muscular-dystrophy/.
  2. Oculopharyngeal muscular dystrophy. Genetics Home Reference (GHR). December 2008; https://ghr.nlm.nih.gov/condition/oculopharyngeal-muscular-dystrophy.
  3. Nissing J. Oculopharyngeal muscular dystrophy. Orphanet. May 2016; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=270.
  4. Trollet C, Gidaro T, Klein P, et al. Oculopharyngeal muscular dystrophy. GeneReviews. Februaru 20, 2014; http://www.ncbi.nlm.nih.gov/books/NBK1126/.