Oculopharyngeal muscular dystrophy, rare genetic disorder: A case report

George Trad; Nazanin Sheikhan; Victoria; Diaz; Eujean Park; Gemil Hatim

doi:10.30574/wjarr.2022.14.1.0300

eISSN: 2581-9615 || CODEN: WJARAI || Impact Factor 8.2 || CrossRef DOI

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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. ***

²PGY2, Department of Internal Medicine Sunrise Health GME Consortium Las Vegas, NV, USA.

³PGY1, Department of Internal Medicine Sunrise Health GME Consortium Las Vegas, NV, USA.

⁴Faculty 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

DOI url: https://doi.org/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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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(1), 140-143. Article DOI: https://doi.org/10.30574/wjarr.2022.14.1.0300

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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}

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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

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Issue details

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}