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Oculopharyngeal Muscular Dystrophy

Oculopharyngeal muscular dystrophy (OPMD) generally begins in a person's forties or fifties and affects both men and women. In the United States, the disease is most common in families of French-Canadian descent and among Hispanic residents of northern New Mexico. Patients first report drooping eyelids, followed by weakness in the facial muscles and pharyngeal muscles in the throat, causing difficulty swallowing. The tongue may atrophy and changes to the voice may occur. Eyelids may droop so dramatically that some patients compensate by tilting back their heads. Patients may have double vision and problems with upper gaze, and others may have retinitis pigmentosa (progressive degeneration of the retina that affects night vision and peripheral vision) and cardiac irregularities. Muscle weakness and wasting in the neck and shoulder region is common. Limb muscles may also be affected. Persons with OPMD may find it difficult to walk, climb stairs, kneel, or bend. Those persons most severely affected will eventually lose the ability to walk.

OPMD is caused by mutations in the PABPN1 gene, which is inherited in an autosomal dominant pattern.



National Institute of Neurological Disorders and Stroke, USA.