What is Oculopharyngeal Muscular Dystrophy (Also known as OPMD)?

OPMD is a disease of voluntary muscles that affects mainly the muscles of the eyes, throat (pharynx) and later limb muscles. The onset is from the 5th decade of life onwards. The first symptom is usually drooping of the eyelids (ptosis) followed by difficulties in swallowing (dysphagia). Limb muscles become affected later in many patients. Other muscles of the face and eye movements may be affected too. Because of the swallowing difficulties the disease is associated with marked weight loss and malnutrition and also with recurrent aspiration pneumonias.

OPMD is a genetic disorder that is usually transmitted in a dominant fashion (i.e. one affected parent may transmit it to an offspring with a 50% chance for each). The genetic defect is in a gene that encodes a protein called PABPN1. This mutation can be diagnosed by a molecular blood test. The disease is more frequent in French-Canadians in Quebec region, Hispanics around the USA and Bukhara Jews, but OPMD has been recorded in numerous other countries around the world.

Currently there is no medical therapy that can alleviate the symptoms of the disease or slow its progression, which leads to marked reduction in quality of life. Various surgical approaches can transiently improve swallowing. Ptosis can also be surgically corrected. These procedures do not affect the progression of the disease and the symptoms usually reappear.

A short video about OPMD