Professor hopes for clinical trials on local disorder

It might have been any group of settlers that brought the genetic mutation, unaware that it would pass from generation to generation.

Now, hundreds of years later, many in New Mexico are still living with this incurable family curse.

Dr. Sarah Youssof, a physician in the UNM Department of Neurology, is laying the groundwork for human clinical trials for this rare genetic disease known as oculopharyngeal muscular dystrophy (OPMD).

She is working to develop outcome measures gauging the severity of the disease that can be used to evaluate treatment options.

According to the Centers for Disease Control and Preventions website, OPMD is a type of muscular dystrophy that causes degeneration of certain muscles initially muscles in the eyes and throat leading to difficulty swallowing and opening the eyelids. OPMD can also cause weakness in the limbs, and symptoms of OPMD typically appear around middle age.

The disease affects approximately 1 in 100,000 people, CDC officials said. However, its far less rare in New Mexico than in any other area of the country.

While it is an extremely rare disease there are fewer than 150 definite cases in the state approximately 12 times as many Hispanics in New Mexico have the disease compared to the non-Hispanic population, Youssof said.

This is a result of what she called the founder effect, which may occur when a very small group of people migrate and settle in a new area, as occurred hundreds of years ago in New Mexico.

The isolation of the newly settled population results in a small gene pool that amplifies the occurrence of any genetic diseases in the descendents of these people, she said.

As a result of New Mexicos high prevalence, UNMH has a unique clinic dedicated specifically to OPMD, which Youssof runs.

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Professor hopes for clinical trials on local disorder