Team of UNM Health Sciences Center Clinicians and Scientists Discover Rare Hereditary Muscle Disease in 39 Northern New Mexico Families

A team of clinicians and scientists at the UNM Health Sciences Center have characterized a population of Hispanic New Mexicans -- primarily from the northern half of the state -- who have a rare inherited disease called Oculopharyngeal Muscular Dystrophy or OPMD.

The study, published in the Journal of the American Medical Association, identifies 216 affected individuals through four generations who have OPMD perhaps the largest group of OPMD cases in the U.S.

The disease, often considered a family trait, has been reported in 29 countries with the largest population being of French-Canadian descent.

The symptoms of OPMD are droopy eyelids and difficulty swallowing. Treatments include surgical procedures to lift the eyelids and dilate the esophagus. Muscular Dystrophy sets in during the last part of the disease and people affected may experience a weakening of the arms and legs. The study shows no adverse effect on life expectancy.

"We hope to bring attention to this large population of OPMD patients in order to provide adequate health care resources to help treat affected individuals in New Mexico," said Dr. Mark Becher, assistant professor at the UNM School of Medicine. "We will continue studies to improve the diagnosis and treatment of these individuals, determine the causes and ultimately find a cure for the disease through on-going research at UNM."

Grants from the Muscular Dystrophy Association have allowed continuing research through special projects and studies.

A hotline number for health professionals and patients is available by calling (505) 272-OPMD (6763). Researchers encourage people who think they may have OPMD to call in to the hotline and sign up for future treatments of the disease.

Contact: HSC Public Affairs, 272-3322

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