1 PGY2, Department of Internal Medicine Sunrise Health GME Consortium 2880 N Tenaya Way 2nd Floor Las Vegas, NV, USA. ***
2 PGY2, Department of Internal Medicine Sunrise Health GME Consortium Las Vegas, NV, USA.
3 PGY1, Department of Internal Medicine Sunrise Health GME Consortium Las Vegas, NV, USA.
4 Faculty Attending, Department of Internal Medicine Sunrise Health GME Consortium Las Vegas, NV, USA.
5 Mountain View Medical Center, Las Vegas, NV, USA.
6 HCA Healthcare, Nashville, TN, USA.
World Journal of Advanced Research and Reviews, 2022, 14(01), 140–143
Article DOI: 10.30574/wjarr.2022.14.1.0300
DOI url: https://doi.org/10.30574/wjarr.2022.14.1.0300
Received on 02 March 2022; revised on 05 April 2022; accepted on 07 April 2022
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.
Oculopharyngeal Muscular Dystrophy; Ptosis; Dysphagia; Outpatient Therapy
Preview Article PDF
George Trad, Nazanin Sheikhan, Victoria, Diaz , Eujean Park and Gemil Hatim. Oculopharyngeal muscular dystrophy, rare genetic disorder: A case report. World Journal of Advanced Research and Reviews, 2022, 14(01), 140–143. Article DOI: https://doi.org/10.30574/wjarr.2022.14.1.0300
Copyright © 2022 Author(s) retain the copyright of this article. This article is published under the terms of the Creative Commons Attribution Liscense 4.0