Oculopharyngeal muscular dystrophy, rare genetic disorder: A case report

George Trad 1, 5, 6, *, Nazanin Sheikhan 2, 5, 6, Victoria, Diaz 3, 5, 6, Eujean Park 2, 5, 6 and Gemil Hatim 4, 5, 6

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.
 
Case Study
World Journal of Advanced Research and Reviews, 2022, 14(01), 140–143
Article DOI: 10.30574/wjarr.2022.14.1.0300
 
Publication history: 
Received on 02 March 2022; revised on 05 April 2022; accepted on 07 April 2022
 
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.
 
Keywords: 
Oculopharyngeal Muscular Dystrophy; Ptosis; Dysphagia; Outpatient Therapy
 
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Copyright information: 
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

 

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