Oculopharyngeal Muscular Dystrophy, Rare Genetic Disorder: A Case Report
Oculopharyngeal Muscular Dystrophy, Ptosis, Dysphagia, Outpatient Therapy
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | Eye Diseases | Internal Medicine | Musculoskeletal Diseases
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.
Publisher or Conference
World Journal of Advanced Research and Reviews
Trad G, Sheikhan N, Diaz V, Park E, Gemil H. Oculopharyngeal muscular dystrophy, rare genetic disorder: A case report. NA J Adv Res Rev. 2022;14(1):140-143. doi: 10.30574/wjarr.2022.14.1.0300