A rare form of muscular dystrophy previously thought to affect mostly French Canadians and an ethnic group in Israel known as Bukhara Jews has been discovered in a group of Hispanic families in New Mexico, reports the Muscular Dystrophy Association (MDA).
A study published last November in the Journal of the American Medical Association found 216 cases of the rare condition oculopharyngeal muscular dystrophy (OPMD) in 39 Hispanic kinship networks in New Mexico. The research was conducted by a multidisciplinary team of scientists-including physicians, genetic counselors and even anthropologists-pooling its efforts to study OPMD in that state. The team also included two MDA-supported researchers, biologist David Bear and physiologist Mark Becher, both at the University of New Mexico Health Sciences Center in Albuquerque.
OPMD, an unusual form of muscular dystrophy caused by a genetic defect located on chromosome 14, primarily affects the muscles in the eyelids and throat. Its major symptoms, which usually appear in patients' 30s to 50s, are drooping eyelids and difficulty in swallowing, sometimes accompanied by weakness in the arms and legs. Genetic testing is commercially available to diagnose OPMD and the condition can be treated by surgery and other options.
By studying the OPMD-affected families in New Mexico, the researchers hope to learn more about the disease's mechanisms, genetics and possible treatments. Bear says the team's goals are "to reach patients and also to educate [local] health care workers to recognize the disease." Many families included in the study did not seek medical treatment for OPMD, he adds, because they thought the problem was a collection of family traits rather than a medical condition-a misconception com-pounded by health care professionals' unfamiliarity with the rare disease.
Meanwhile, in a broader-based national effort to educate U.S. Hispanic populations about all forms of muscular dystrophy, the MDA has launched a culturally competent bilingual public information campaign, "Un Futuro con Esperanza. . .A Future With Hope." Hispanic television personality Don Francisco, host of the popular show Sábado Gigante, is the national spokesman for the campaign, which includes print, TV and radio ads, billboards, public service announcements and a Web site, www.mdaenespanol.org.
More information is available online at www.mdausa.org or by calling the MDA at (800) 572-1717.