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Oculopharyngeal Muscular Dystrophy: A Case Report From Puerto Rico.

Authors :
Menendez Sepulveda JA
Izquierdo N
Source :
Cureus [Cureus] 2024 Jul 30; Vol. 16 (7), pp. e65766. Date of Electronic Publication: 2024 Jul 30 (Print Publication: 2024).
Publication Year :
2024

Abstract

Oculopharyngeal muscular dystrophy (OPMD) is a late-onset inherited skeletal myopathy. The diagnosis is based on a clinical presentation of blepharoptosis, dysphagia, and a positive family history of the disease in patients past 40 years of age. A 57-year-old male patient presented with ptosis without lid crease, adult-onset dysphagia, and bilateral pseudophakia. The patient underwent ptosis repair of upper eyelids via frontalis slings with silicone rods. His mother was subsequently found to have ptosis, dry eyes, and anorexia due to dysphagia, thus suggesting a probable family history. Based on the comprehensive ophthalmic evaluation, and based on his ptosis, dysphagia, and family history, the patient was diagnosed with OPMD.<br />Competing Interests: Human subjects: Consent was obtained or waived by all participants in this study. Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work.<br /> (Copyright © 2024, Menendez Sepulveda et al.)

Details

Language :
English
ISSN :
2168-8184
Volume :
16
Issue :
7
Database :
MEDLINE
Journal :
Cureus
Publication Type :
Academic Journal
Accession number :
39082045
Full Text :
https://doi.org/10.7759/cureus.65766