ADCY5-related dyskinesia: a case report

Adenylyl cyclase 5 (ADCY5) related dyskinesia is a rare disorder characterized by early-onset paroxysmal choreoathetosis, dystonia, myoclonus, or a combination of the above, which primarily involved the limbs, face, and neck. Other common clinical features are axial hypotonia and episodic exacerbati...

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Autores principales: Chen, Shih-Ying, Ho, Chen-Jui, Lu, Yan-Ting, Lin, Chih-Hsiang, Tsai, Meng-Han
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Letter to the Editor
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9377057/
https://www.ncbi.nlm.nih.gov/pubmed/35965335
http://dx.doi.org/10.1186/s42466-022-00204-w
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author Chen, Shih-Ying
Ho, Chen-Jui
Lu, Yan-Ting
Lin, Chih-Hsiang
Tsai, Meng-Han
author_facet Chen, Shih-Ying
Ho, Chen-Jui
Lu, Yan-Ting
Lin, Chih-Hsiang
Tsai, Meng-Han
author_sort Chen, Shih-Ying
collection PubMed
description Adenylyl cyclase 5 (ADCY5) related dyskinesia is a rare disorder characterized by early-onset paroxysmal choreoathetosis, dystonia, myoclonus, or a combination of the above, which primarily involved the limbs, face, and neck. Other common clinical features are axial hypotonia and episodic exacerbation of dyskinesia. Both sporadic and inherited cases have been reported and the predomiant mode of inheritance is autosomal dominant. Herein, we describe the first ADCY5-related dyskinesia patient in Taiwan.
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spelling pubmed-93770572022-08-16 ADCY5-related dyskinesia: a case report Chen, Shih-Ying Ho, Chen-Jui Lu, Yan-Ting Lin, Chih-Hsiang Tsai, Meng-Han Neurol Res Pract Letter to the Editor Adenylyl cyclase 5 (ADCY5) related dyskinesia is a rare disorder characterized by early-onset paroxysmal choreoathetosis, dystonia, myoclonus, or a combination of the above, which primarily involved the limbs, face, and neck. Other common clinical features are axial hypotonia and episodic exacerbation of dyskinesia. Both sporadic and inherited cases have been reported and the predomiant mode of inheritance is autosomal dominant. Herein, we describe the first ADCY5-related dyskinesia patient in Taiwan. BioMed Central 2022-08-15 /pmc/articles/PMC9377057/ /pubmed/35965335 http://dx.doi.org/10.1186/s42466-022-00204-w Text en © The Author(s) 2022 https://creativecommons.org/licenses/by/4.0/Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) .
spellingShingle Letter to the Editor
Chen, Shih-Ying
Ho, Chen-Jui
Lu, Yan-Ting
Lin, Chih-Hsiang
Tsai, Meng-Han
ADCY5-related dyskinesia: a case report
title ADCY5-related dyskinesia: a case report
title_full ADCY5-related dyskinesia: a case report
title_fullStr ADCY5-related dyskinesia: a case report
title_full_unstemmed ADCY5-related dyskinesia: a case report
title_short ADCY5-related dyskinesia: a case report
title_sort adcy5-related dyskinesia: a case report
topic Letter to the Editor
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9377057/
https://www.ncbi.nlm.nih.gov/pubmed/35965335
http://dx.doi.org/10.1186/s42466-022-00204-w
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