What is Oculopharyngeal muscular dystrophy

Oculopharyngeal muscular dystrophy (OPMD) is a rare genetic disorder that primarily affects the muscles of the eyes (oculo-) and throat (pharyngeal). It is characterized by a progressive weakening and wasting of these muscles over time. OPMD is caused by mutations in the PABPN1 gene, which leads to the formation of abnormal protein aggregates within muscle cells.

The symptoms of OPMD usually appear in adulthood, typically between the ages of 40 and 60. Individuals with OPMD may experience droopy eyelids (ptosis), difficulty swallowing (dysphagia), and weakness in the muscles of the face, neck, and limbs. These symptoms can vary in severity among affected individuals.

While there is currently no cure for OPMD, treatment focuses on managing the symptoms and improving quality of life. This may involve the use of eyeglasses or surgery to address vision problems, as well as dietary modifications and swallowing techniques to aid in swallowing difficulties. Physical therapy and assistive devices can also help maintain muscle strength and mobility.

Early diagnosis and ongoing medical care are crucial in managing OPMD and addressing its associated complications. Genetic counseling may be recommended for individuals with a family history of OPMD or those planning to have children, as the disorder is inherited in an autosomal dominant manner.