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...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Wolters Kluwer Health
2018
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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. |
format | Online Article Text |
id | pubmed-6221716 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2018 |
publisher | Wolters Kluwer Health |
record_format | MEDLINE/PubMed |
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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