Oculopharyngeal Muscular Dystrophy, Rare Genetic Disorder: A Case Report

Authors

George Trad, HCA HealthcareFollow
Nazanin Sheikhan, HCA HealthcareFollow
Victoria Diaz, HCA HealthcareFollow
Eujean Park, HCA HealthcareFollow
Hatim Gemil, HCA HealthcareFollow

Division

Far West

Hospital

MountainView Hospital

Document Type

Case Report

Publication Date

4-7-2022

Keywords

Oculopharyngeal Muscular Dystrophy, Ptosis, Dysphagia, Outpatient Therapy

Disciplines

Congenital, Hereditary, and Neonatal Diseases and Abnormalities | Eye Diseases | Internal Medicine | Musculoskeletal Diseases

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.

Publisher or Conference

World Journal of Advanced Research and Reviews

Recommended Citation

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