Oculopharyngeal muscular dystrophy, rare genetic disorder: A case report

Abstract

Oculopharyngeal muscular dystrophy (OPMD) is a rare genetic disease that targets the muscles of the eyelids and pharynx. OPMD is caused by an abnormal expansion of a trinucleotide repeat (GCG) in the coding region of poly-A binding protein nuclear 1 gene (PABPN-1). Patients with OPMD present mainly with ptosis, dysphagia, and extremity weakness. Herein, we present a case report of a patient with OPMD. Our case report will provide detailed information regarding the outpatient management of OPMD, as well as possible therapies of the future for these patients.