Dysphagia with fatal choking in oculopharyngeal muscular dystrophy: Case report

RATIONALE: Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant late-onset progressive muscle disorder typically characterized by ptosis, difficulty in swallowing, and proximal limb weakness. Underdiagnosis of OPMD is common in Asian countries and results in delayed diagnoses and fatal...

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Autores principales: Chen, Andy Wei-Ge, Wu, Shey-Lin, Cheng, Wen-Ling, Chuang, Chieh-Sen, Chen, Chih-Hua, Chen, Mu-Kuan, Liu, Chin-San
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6221716/
https://www.ncbi.nlm.nih.gov/pubmed/30412104
http://dx.doi.org/10.1097/MD.0000000000012935
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author Chen, Andy Wei-Ge
Wu, Shey-Lin
Cheng, Wen-Ling
Chuang, Chieh-Sen
Chen, Chih-Hua
Chen, Mu-Kuan
Liu, Chin-San
author_facet Chen, Andy Wei-Ge
Wu, Shey-Lin
Cheng, Wen-Ling
Chuang, Chieh-Sen
Chen, Chih-Hua
Chen, Mu-Kuan
Liu, Chin-San
author_sort Chen, Andy Wei-Ge
collection PubMed
description RATIONALE: Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant late-onset progressive muscle disorder typically characterized by ptosis, difficulty in swallowing, and proximal limb weakness. Underdiagnosis of OPMD is common in Asian countries and results in delayed diagnoses and fatal events. PATIENT CONCERNS: Here, we report the case of a 53-year-old female who suffered from progressive dysphagia and experienced several choking events involving solid material. An extensive family history of dysphagia was noted, and 2 family members had died as a result of aspiration. DIAGNOSES: PABPN1 genotyping and DNA sequence analysis revealed a heterozygous (GCG)(10)(GCA)(3)GCG mutation that led to the diagnosis of OPMD. INTERVENTIONS: Rehabilitation exercises, namely, the Shaker exercise and the Masako maneuver, were suggested. OUTCOMES: Improved swallowing ability with safe food intake was noted after 2 months of training. Surgical intervention will be considered when progression of the disease is noted. LESSONS: Underdiagnosis and a lack of awareness of OPMD may lead to choking, aspiration pneumonia, and death in multiple members of affected families. Currently, there is no definitive treatment for OPMD, but rehabilitation exercises and surgical intervention are helpful in relieving dysphagia.
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spelling pubmed-62217162018-12-04 Dysphagia with fatal choking in oculopharyngeal muscular dystrophy: Case report Chen, Andy Wei-Ge Wu, Shey-Lin Cheng, Wen-Ling Chuang, Chieh-Sen Chen, Chih-Hua Chen, Mu-Kuan Liu, Chin-San Medicine (Baltimore) Research Article RATIONALE: Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant late-onset progressive muscle disorder typically characterized by ptosis, difficulty in swallowing, and proximal limb weakness. Underdiagnosis of OPMD is common in Asian countries and results in delayed diagnoses and fatal events. PATIENT CONCERNS: Here, we report the case of a 53-year-old female who suffered from progressive dysphagia and experienced several choking events involving solid material. An extensive family history of dysphagia was noted, and 2 family members had died as a result of aspiration. DIAGNOSES: PABPN1 genotyping and DNA sequence analysis revealed a heterozygous (GCG)(10)(GCA)(3)GCG mutation that led to the diagnosis of OPMD. INTERVENTIONS: Rehabilitation exercises, namely, the Shaker exercise and the Masako maneuver, were suggested. OUTCOMES: Improved swallowing ability with safe food intake was noted after 2 months of training. Surgical intervention will be considered when progression of the disease is noted. LESSONS: Underdiagnosis and a lack of awareness of OPMD may lead to choking, aspiration pneumonia, and death in multiple members of affected families. Currently, there is no definitive treatment for OPMD, but rehabilitation exercises and surgical intervention are helpful in relieving dysphagia. Wolters Kluwer Health 2018-10-26 /pmc/articles/PMC6221716/ /pubmed/30412104 http://dx.doi.org/10.1097/MD.0000000000012935 Text en Copyright © 2018 the Author(s). Published by Wolters Kluwer Health, Inc. http://creativecommons.org/licenses/by-nc/4.0 This is an open access article distributed under the terms of the Creative Commons Attribution-Non Commercial License 4.0 (CCBY-NC), where it is permissible to download, share, remix, transform, and buildup the work provided it is properly cited. The work cannot be used commercially without permission from the journal. http://creativecommons.org/licenses/by-nc/4.0
spellingShingle Research Article
Chen, Andy Wei-Ge
Wu, Shey-Lin
Cheng, Wen-Ling
Chuang, Chieh-Sen
Chen, Chih-Hua
Chen, Mu-Kuan
Liu, Chin-San
Dysphagia with fatal choking in oculopharyngeal muscular dystrophy: Case report
title Dysphagia with fatal choking in oculopharyngeal muscular dystrophy: Case report
title_full Dysphagia with fatal choking in oculopharyngeal muscular dystrophy: Case report
title_fullStr Dysphagia with fatal choking in oculopharyngeal muscular dystrophy: Case report
title_full_unstemmed Dysphagia with fatal choking in oculopharyngeal muscular dystrophy: Case report
title_short Dysphagia with fatal choking in oculopharyngeal muscular dystrophy: Case report
title_sort dysphagia with fatal choking in oculopharyngeal muscular dystrophy: case report
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6221716/
https://www.ncbi.nlm.nih.gov/pubmed/30412104
http://dx.doi.org/10.1097/MD.0000000000012935
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