Oculopharyngeal Muscular Dystrophy (OPMD)

Muscle Physiology — Masahiro Iwamoto, Ph.D., D.D.S.

Masahiro Iwamoto, research scientist at the Children’s Hospital of Philadelphia and associate professor of pediatric orthopedics at the University of Pennsylvania School of Medicine, was awarded an MDA research grant totaling $405,000 over a period of three years to study new ways to reduce muscle degeneration.

OPMD — Ayan Banerjee, Ph.D.

Ayan Banerjee, a postdoctoral researcher in biochemistry at Emory University in Atlanta, Ga., was awarded an MDA development grant totaling $180,000 over a period of three years to study the protein defects that cause oculopharyngeal muscular dystrophy (OPMD).

Clinical Trials

About clinical trials

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.)


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.


What causes OPMD?

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.

Medical Management


muscles of the eyelid
The purpose of a frontalis sling operation is to allow the frontalis muscle, which normally maintains its strength in OPMD, to open the eye.


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.

Signs and Symptoms

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.