Oculopharyngeal Muscular Dystrophy (OPMD)
What is oculopharyngeal muscular dystrophy (OPMD)?
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.
What are the symptoms of OPMD?
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.
What causes OPMD?
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.
What is the progression of OPMD?
Symptoms of OPMD usually do not appear until the 40s or 50s, and progression is slow.
What is the status of research in OPMD?
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.