Gene Therapy for Oculopharyngeal Muscular Dystrophy
Oculopharyngeal Muscular Dystrophy (OPMD) is a genetic disorder that typically presents after the age of forty. Like most Muscular Dystrophy (MD) diseases, it’s a slow progressing disease that affects the muscles of the upper eyelid and throat leading to ptosis or drooping eyelids, as well as dysphagia or difficulties in swallowing. In some cases, the disease may affect other areas of the body such as the upper legs and arms, eventually affecting the legs enough that walking may become difficult over time. Both of the symptoms associated with the eyes and throat can be managed or corrected with surgery, but commonly recur between five and fifteen years of the procedure. There are two types of OPMD based on how they are inherited, autosomal dominant and autosomal recessive and are both mutations of the PABPN1 gene. OPMD is one of the nine major forms of MD but is also one of the more rare forms of MD.