Oculopharyngeal muscular dystrophy (OPMD) is a rare genetic condition causing muscle weakness around the upper eyelids and throat.
While the mutated gene that causes OPMD is present at birth, symptoms usually appear between the ages of 40 and 50. The mutation causes the creation of abnormal proteins that clump inside muscle cells and hamper their function. Eventually, these clumps can not only damage but even kill muscle cells.
The most common Oculopharyngeal Muscular Dystrophy symptoms are difficulty swallowing, droopy eyelids, and difficulty moving the eyes. Eventually, additional muscles, including those of the arms and upper legs, can become affected, which might cause mobility problems.
Notwithstanding, the rate of progression and specific symptoms associated with OPMD vary significantly from case to case, even among members of the same family.
While The prevalence of OPMD in the general public is estimated to be 1 in 100,000, the condition is found to be much more common in the French-Canadian population of Quebec, where it is estimated to affect 1 in 1000 individuals, and in the Bukharan Jewish population of Israel, where it is found to affect 1 in 600 people.
Sheba’s New OPMD Clinic
Recognizing the growing need among OPMD patients, Sheba has recently opened a specialized clinic, headed by Dr. Amir Dori, who also heads Sheba’s EMG laboratory. Employing a multifaceted approach to diagnosis, treatment, and monitoring, the OPMD Clinic team includes ENTs, neurologists, communication clinicians, oral and maxillofacial physicians, and ophthalmologists.
Services offered at the new clinic include genetic testing to detect OPMD, which will allow the establishment of a national database that can be used to advance OPMD research.
“This type of clinic, with expertise in a range of subspecialties, gives OPMD patients comprehensive diagnostics and therapeutic solutions under the same roof,” says Dr. Shelly, a Senior physician in the newly opened clinic. “The national database will allow faster advanced genetic testing, so we can both identify the disease earlier and predict its course. Building on these advances, we hope to be soon able to provide the first-ever FDA-approved treatment for OPMD patients.”