MDA leads the search for treatments and therapies for oculopharyngeal muscular dystrophy (OPMD). The Association also provides comprehensive supports and expert clinical care for those living with OPMD.
In this section, you’ll find up-to-date information about oculopharyngeal muscular dystrophy, as well as many helpful resources. This information has been compiled with input from researchers, physicians and people affected by the disease.
As you learn more about OPMD, always remember that you’re not alone. MDA is here for you and your family, standing ready to provide help and hope. There is a place for you in the MDA OPMD community.
MDA provides support by:
Once you sign up with your local MDA office , you’ll begin receiving MDA’s quarterly Quest  magazine, where you’ll find news about research and health care, helpful products and devices, social and family issues, and more.
In addition, MDA will keep you informed through e-alerts, educational publications and speakers, seminars, videos and newsletters.
Please know that there’s a role for you in the fight against oculopharyngeal muscular dystrophy. The MDA community is strong and dedicated, with opportunities for involvement at all levels, such as:
Please know that there’s an important role for every member of the OPMD community. We urge you to contact your local MDA office  to learn more.
An OPMD diagnosis doesn’t mean an end to your hopes and dreams. Changes, challenges and adaptations lay ahead, but also opportunity, fulfillment, joy and hope for a future free of oculopharyngeal muscular dystrophy.
Never forget that MDA is here to help.
OPMD is one of nine types of muscular dystrophy, a group of genetic, degenerative diseases primarily affecting voluntary muscles. Although named for the muscles it affects first — the eyelids (oculo) and throat (pharyngeal) — OPMD also can affect facial and limb muscles.
Difficulty swallowing and keeping the eyes open are common. Later on, some people with OPMD may have mobility problems. For more, see Signs and Symptoms .
OPMD is caused by a genetic defect leading to production of extra chemical material that forms clumps in the muscle cells. It can be inherited from either one or both parents, and affects men and women equally. For more, see Causes/Inheritance .
Symptoms of OPMD usually do not appear until the 40s or 50s, and progression is slow.
Researchers have identified the gene that, when defective, causes OPMD, and MDA-supported scientists are building on that knowledge in a variety of ways. Areas of genetic research in OPMD include gene therapy, gene silencing and cell therapy. At the same time, other MDA-supported scientists are studying ways to preserve muscle despite the presence of a degenerative disease. For more, see Research .
Symptoms of oculopharyngeal muscular dystrophy (OPMD) usually do not begin until the mid-40s or 50s, but can occur earlier. A person with OPMD may first notice drooping eyelids  (a condition known as ptosis), which gradually lead to tipping the head backward to see properly.
Alternatively, some people might first notice that they tend to choke frequently and may have other problems related to difficulty swallowing  (called dysphagia). Most people with OPMD eventually develop some degree of both ptosis and dysphagia.
Eventual weakness of the muscles in the face and limbs is common. For instance, many people with OPMD report problems with kneeling, bending, squatting, walking and climbing stairs. Double vision and a “breathy” quality of the voice also may occur.
In diagnosing any form of muscular dystrophy, a doctor usually begins by taking a patient and family history and performing a physical examination. Much can be learned from these, including the pattern of weakness. The history and physical go a long way toward making the diagnosis, even before any complicated diagnostic tests are done.
The doctor also wants to determine whether the patient’s weakness results from a problem in the muscles themselves or in the nerves that control them. Problems with muscle-controlling nerves, or motor nerves, originating in the spinal cord and reaching out to all the muscles, can cause weakness that looks like a muscle problem but really isn’t.
Usually, the origin of the weakness can be pinpointed by a physical exam. Occasionally, special tests called nerve conduction studies and electromyography (EMG)  are done. In these tests, electricity and very fine pins are used to stimulate and assess the muscles or nerves individually to see where the problem lies. Electromyography is uncomfortable but not usually very painful.
Early in the diagnostic process doctors often order a special blood test called a CK level . CK stands for creatine kinase, an enzyme that leaks out of damaged muscle. When elevated CK levels are found in a blood sample, it usually means muscle is being destroyed by some abnormal process, such as a muscular dystrophy or inflammation. Therefore, a high CK level often suggests that the muscles themselves are the likely cause of the weakness, but it doesn’t tell exactly what the muscle disorder might be.
To determine which disorder is causing CK elevation, a doctor may order a muscle biopsy , the surgical removal of a small sample of muscle from the patient. By examining this sample, doctors can tell a great deal about what’s actually happening inside the muscles. Modern techniques can use the biopsy to distinguish muscular dystrophies from infections, inflammatory disorders and other problems.
Other tests on the biopsy sample can provide information about which muscle proteins are present in the muscle cells, and whether they’re present in the normal amounts and in the right locations. This can tell the doctor and patient what’s wrong with the cells’ proteins and provide likely candidates as to which genes are responsible for the problem. The correlation between missing proteins on the muscle biopsy and genetic flaws isn’t perfect, however. An MDA clinic  physician can help you understand these results.
Genetic (DNA) tests, using a blood sample, can analyze the person’s genes for particular defects that cause oculopharyngeal muscular dystrophy (OPMD). These tests help predict the likely course of a disease and help families assess the risk of passing the disease on to the next generation. For more on the genetic causes of oculopharyngeal muscular dystrophy (OPMD), see Causes/Inheritance .
For more on the genetics of neuromuscular disease in general, see Facts About Genetics and Neuromuscular Diseases . To learn more about getting a definitive genetic diagnosis, see The Genie's Out of the Bottle: Genetic testing in the 21st century .
The gene that’s defective in oculopharyngeal muscular dystrophy (OPMD) was discovered in 1998. It carries instructions for a polyadenylate binding protein (PABPN1) that’s normally present in the cell nucleus.
Researchers suspect that in OPMD, the presence of extra amino acids in the protein made from a defective PABPN1 gene causes the PABPN1 protein to clump together in the muscle cell nuclei, perhaps interfering with cell function.
When muscle tissue from a person with OPMD is examined under a high-powered microscope, clumps of proteins called inclusions are seen in the muscle cell nuclei (the cellular compartments that contain the chromosomes), and bubblelike structures (vacuoles) appear in the muscle cells.
OPMD is usually inherited in a dominant pattern, meaning only one copy of the gene responsible for the defect is needed to cause the disease. In rare cases, OPMD may show a recessive pattern of inheritance, meaning the person with OPMD got two copies of the defective gene, one from each parent.
The disease is most common in French-Canadian families or families of French-Canadian descent. There’s also a high incidence of OPMD among Hispanic residents of northern New Mexico.
OPMD also can affect people who aren’t of French-Canadian or Hispanic background.
For more on inheritance patterns in muscular dystrophy, see Facts About Genetics and Neuromuscular Diseases .
|Muscles are made up of bundles of fibers (cells). Groups of proteins along the membrane surrounding each fiber and within the cell help to keep muscle cells working properly. When one of these proteins is abnormal or deficient (because a gene fails to make it properly), the result can be a form of muscular dystrophy. Absence of or defects in different proteins are among the causes of different types of muscular dystrophy. In OPMD, the abnormal protein is PABPN1.|
|The purpose of a frontalis sling operation is to allow the frontalis muscle, which normally maintains its strength in OPMD, to open the eye.|
Difficulty swallowing, or dysphagia, can cause a person to aspirate food or liquid into the lungs, which in turn may lead to a serious problem called aspiration pneumonia. If you find that you’re choking  frequently while eating or drinking, you may need to have your swallowing abilities evaluated by a professional.
There are a number of techniques that may help treat dysphagia, ranging from holding the head in different positions to changing the consistency of foods and liquids. Commercial thickeners may give liquids a more manageable consistency.
In advanced cases, a nonsurgical procedure called throat stretching or a surgical procedure called a cricopharyngeal myotomy may be warranted. Tube feeding  is another option for advanced cases.
Your MDA clinic  will refer you to a speech-language pathologist (SLP) or an otolaryngologist (ear, nose and throat doctor) as needed.
Trouble with picking up the feet when walking can lead to stumbling and falls. Leg braces, a cane or walker  can help. Eventually, those with OPMD may need to use a wheelchair to make mobility more convenient.
Upper arm and shoulder weakness that limits function can be addressed with adaptive techniques through occupational therapy.
For more on the medical management and pathophysiology of OPMD, see In Focus: Oculopharyngeal Muscular Dystrophy .
Droopy eyelids, or ptosis, can significantly impair vision and may lead to social awkwardness.
This problem can be resolved with a type of surgery called a frontalis sling  performed by an oculoplastic surgeon.
Or, for a “low-tech” solution, some people use attachments to glasses that hold the eyes open. These are called eyelid crutches or ptosis crutches.
In 1986, MDA-supported scientists identified the gene that, when defective, causes Duchenne muscular dystrophy . Since then, researchers have forged ahead to isolate and characterize genes involved in almost all the neuromuscular disorders in MDA’s program, including those responsible for oculopharyngeal muscular dystrophy (OPMD). These discoveries have enabled scientists to understand variations among different forms of the diseases and have helped doctors to provide more accurate diagnoses.
Now that this essential first step is almost entirely accomplished, MDA is exploring ways to correct muscle problems caused by the different gene defects. Areas of especially active research include:
At the same time, other MDA-supported scientists are studying ways to preserve muscle despite the presence of a degenerative disease. As of 2010, some scientists are concentrating on preserving muscle by interfering with a protein called myostatin, a natural inhibitor of muscle growth. Others are studying the biochemical signals that favor muscle repair, maintenance and regeneration, with the aim of improving those functions.
MDA-supported researchers are probing the causes of OPMD at the molecular and cellular levels, with an eye to identifying targets for therapeutic development.
For instance, they're trying to figure out precisely how abnormalities in the PABPN1 protein (see Causes/Inheritance ) cause problems in skeletal muscles and are investigating the possibility that abnormal PABPN1 proteins may affect genes important for muscle function.
For more on OPMD, including research in this disease, see In Focus: Oculopharyngeal Muscular Dystrophy (OPMD) .
A clinical trial is a test in humans of an experimental medication or therapy. Clinical trials are experiments, not treatments, and participation requires careful consideration.
Although it's possible to benefit from participating in a clinical trial, it's also possible that no benefit — or even harm — may occur. Keep your MDA clinic  doctor informed about any clinical trial participation. (Note that MDA has no ability to influence who is chosen to participate in a clinical trial.)
For a more refined list of OPMD clinical trials, visit ClinicalTrials.gov , a registry of federally and privately supported clinical trials in the United States and around the world. Select "Search for Clinical Trials," and follow the instructions to narrow down your search results.