Bilateral Adduction Palsy in a Patient with Myotonic Dystrophy Type 1

Myotonic dystrophy type 1 (DM1) is caused by CTG repeat expansion in the DMPK gene in chromosome 19q13.3. External ophthalmoplegia is a rare manifestation in DM1. We report a DM1 patient confirmed by the presence of 650 CTG triplet expansions in the DMPK gene and had limitation of adduction gaze bil...

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Detalles Bibliográficos
Autores principales: Kim, Hong-Jeon, Oh, Jung-Hwan, Kang, Sa-Yoon
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Society for Brain and Neural Science 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4923359/
https://www.ncbi.nlm.nih.gov/pubmed/27358583
http://dx.doi.org/10.5607/en.2016.25.3.143
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author Kim, Hong-Jeon
Oh, Jung-Hwan
Kang, Sa-Yoon
author_facet Kim, Hong-Jeon
Oh, Jung-Hwan
Kang, Sa-Yoon
author_sort Kim, Hong-Jeon
collection PubMed
description Myotonic dystrophy type 1 (DM1) is caused by CTG repeat expansion in the DMPK gene in chromosome 19q13.3. External ophthalmoplegia is a rare manifestation in DM1. We report a DM1 patient confirmed by the presence of 650 CTG triplet expansions in the DMPK gene and had limitation of adduction gaze bilaterally. Brain MRI showed bilateral medial rectus muscles atrophy. Our patient provides additional evidence of ocular motor muscle involvement in DM1.
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spelling pubmed-49233592016-06-29 Bilateral Adduction Palsy in a Patient with Myotonic Dystrophy Type 1 Kim, Hong-Jeon Oh, Jung-Hwan Kang, Sa-Yoon Exp Neurobiol Case Report Myotonic dystrophy type 1 (DM1) is caused by CTG repeat expansion in the DMPK gene in chromosome 19q13.3. External ophthalmoplegia is a rare manifestation in DM1. We report a DM1 patient confirmed by the presence of 650 CTG triplet expansions in the DMPK gene and had limitation of adduction gaze bilaterally. Brain MRI showed bilateral medial rectus muscles atrophy. Our patient provides additional evidence of ocular motor muscle involvement in DM1. The Korean Society for Brain and Neural Science 2016-06 2016-05-27 /pmc/articles/PMC4923359/ /pubmed/27358583 http://dx.doi.org/10.5607/en.2016.25.3.143 Text en Copyright © Experimental Neurobiology 2016. 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 (http://creativecommons.org/licenses/by-nc/4.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Kim, Hong-Jeon
Oh, Jung-Hwan
Kang, Sa-Yoon
Bilateral Adduction Palsy in a Patient with Myotonic Dystrophy Type 1
title Bilateral Adduction Palsy in a Patient with Myotonic Dystrophy Type 1
title_full Bilateral Adduction Palsy in a Patient with Myotonic Dystrophy Type 1
title_fullStr Bilateral Adduction Palsy in a Patient with Myotonic Dystrophy Type 1
title_full_unstemmed Bilateral Adduction Palsy in a Patient with Myotonic Dystrophy Type 1
title_short Bilateral Adduction Palsy in a Patient with Myotonic Dystrophy Type 1
title_sort bilateral adduction palsy in a patient with myotonic dystrophy type 1
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4923359/
https://www.ncbi.nlm.nih.gov/pubmed/27358583
http://dx.doi.org/10.5607/en.2016.25.3.143
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