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Sigmoid Volvulus in Myotonic Dystrophy Type I (Steinert Disease)
Myotonic dystrophy (MD) is a progressive multisystem genetic disorder that is characterized by progressive muscle weakness and wasting. MD1 (also known as Steinert disease) is associated with various clinical entities such as skeletal muscle weakness, myotonia, cardiac abnormalities, respiratory dys...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
S. Karger AG
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9035962/ https://www.ncbi.nlm.nih.gov/pubmed/35528770 http://dx.doi.org/10.1159/000522476 |
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author | Bayoumy, Ahmed B. Gjertsen, Jennifer Suzanne Tushuizen, Maarten E. |
author_facet | Bayoumy, Ahmed B. Gjertsen, Jennifer Suzanne Tushuizen, Maarten E. |
author_sort | Bayoumy, Ahmed B. |
collection | PubMed |
description | Myotonic dystrophy (MD) is a progressive multisystem genetic disorder that is characterized by progressive muscle weakness and wasting. MD1 (also known as Steinert disease) is associated with various clinical entities such as skeletal muscle weakness, myotonia, cardiac abnormalities, respiratory dysfunction, gastrointestinal involvement, and cognitive impairment. In this case report, we present a 32-year-old woman with MD1 who presented with a sigmoid volvulus, which was treated with endoscopic decompression. |
format | Online Article Text |
id | pubmed-9035962 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | S. Karger AG |
record_format | MEDLINE/PubMed |
spelling | pubmed-90359622022-05-06 Sigmoid Volvulus in Myotonic Dystrophy Type I (Steinert Disease) Bayoumy, Ahmed B. Gjertsen, Jennifer Suzanne Tushuizen, Maarten E. Case Rep Gastroenterol Case and Review Myotonic dystrophy (MD) is a progressive multisystem genetic disorder that is characterized by progressive muscle weakness and wasting. MD1 (also known as Steinert disease) is associated with various clinical entities such as skeletal muscle weakness, myotonia, cardiac abnormalities, respiratory dysfunction, gastrointestinal involvement, and cognitive impairment. In this case report, we present a 32-year-old woman with MD1 who presented with a sigmoid volvulus, which was treated with endoscopic decompression. S. Karger AG 2022-03-31 /pmc/articles/PMC9035962/ /pubmed/35528770 http://dx.doi.org/10.1159/000522476 Text en Copyright © 2022 by S. Karger AG, Basel https://creativecommons.org/licenses/by-nc/4.0/This article is licensed under the Creative Commons Attribution-NonCommercial-4.0 International License (CC BY-NC) (http://www.karger.com/Services/OpenAccessLicense). Usage and distribution for commercial purposes requires written permission. |
spellingShingle | Case and Review Bayoumy, Ahmed B. Gjertsen, Jennifer Suzanne Tushuizen, Maarten E. Sigmoid Volvulus in Myotonic Dystrophy Type I (Steinert Disease) |
title | Sigmoid Volvulus in Myotonic Dystrophy Type I (Steinert Disease) |
title_full | Sigmoid Volvulus in Myotonic Dystrophy Type I (Steinert Disease) |
title_fullStr | Sigmoid Volvulus in Myotonic Dystrophy Type I (Steinert Disease) |
title_full_unstemmed | Sigmoid Volvulus in Myotonic Dystrophy Type I (Steinert Disease) |
title_short | Sigmoid Volvulus in Myotonic Dystrophy Type I (Steinert Disease) |
title_sort | sigmoid volvulus in myotonic dystrophy type i (steinert disease) |
topic | Case and Review |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9035962/ https://www.ncbi.nlm.nih.gov/pubmed/35528770 http://dx.doi.org/10.1159/000522476 |
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