A KMT2B Frameshift Variant Causing Focal Dystonia Restricted to the Oromandibular Region After Long-Term Follow-up

KMT2B-linked dystonia (DYT-KMT2B) is a childhood-onset dystonia syndrome typically beginning in the lower limbs and progressing caudocranially to affect the upper limbs with eventual prominent craniocervical involvement. Despite its recent recognition, it now appears to be one of the more common mon...

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Autores principales: Closas, Alfand Marl F. Dy, Lohmann, Katja, Tan, Ai Huey, Ibrahim, Norlinah Mohamed, Lim, Jia Lun, Tay, Yi Wen, Muthusamy, Kalai Arasu, Ahmad-Annuar, Azlina Binti, Klein, Christine, Lim, Shen-Yang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Movement Disorder Society 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9978264/
https://www.ncbi.nlm.nih.gov/pubmed/36537064
http://dx.doi.org/10.14802/jmd.22109
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author Closas, Alfand Marl F. Dy
Lohmann, Katja
Tan, Ai Huey
Ibrahim, Norlinah Mohamed
Lim, Jia Lun
Tay, Yi Wen
Muthusamy, Kalai Arasu
Ahmad-Annuar, Azlina Binti
Klein, Christine
Lim, Shen-Yang
author_facet Closas, Alfand Marl F. Dy
Lohmann, Katja
Tan, Ai Huey
Ibrahim, Norlinah Mohamed
Lim, Jia Lun
Tay, Yi Wen
Muthusamy, Kalai Arasu
Ahmad-Annuar, Azlina Binti
Klein, Christine
Lim, Shen-Yang
author_sort Closas, Alfand Marl F. Dy
collection PubMed
description KMT2B-linked dystonia (DYT-KMT2B) is a childhood-onset dystonia syndrome typically beginning in the lower limbs and progressing caudocranially to affect the upper limbs with eventual prominent craniocervical involvement. Despite its recent recognition, it now appears to be one of the more common monogenic causes of dystonia syndromes. Here, we present an atypical case of DYT-KMT2B with oromandibular dystonia as the presenting feature, which remained restricted to this region three decades after symptom onset. This appears to be the first reported case of DYT-KMT2B from Southeast Asia and provides further supporting evidence for the pathogenic impact of the KMT2B c.6210_6213delTGAG variant.
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spelling pubmed-99782642023-03-03 A KMT2B Frameshift Variant Causing Focal Dystonia Restricted to the Oromandibular Region After Long-Term Follow-up Closas, Alfand Marl F. Dy Lohmann, Katja Tan, Ai Huey Ibrahim, Norlinah Mohamed Lim, Jia Lun Tay, Yi Wen Muthusamy, Kalai Arasu Ahmad-Annuar, Azlina Binti Klein, Christine Lim, Shen-Yang J Mov Disord Case Report KMT2B-linked dystonia (DYT-KMT2B) is a childhood-onset dystonia syndrome typically beginning in the lower limbs and progressing caudocranially to affect the upper limbs with eventual prominent craniocervical involvement. Despite its recent recognition, it now appears to be one of the more common monogenic causes of dystonia syndromes. Here, we present an atypical case of DYT-KMT2B with oromandibular dystonia as the presenting feature, which remained restricted to this region three decades after symptom onset. This appears to be the first reported case of DYT-KMT2B from Southeast Asia and provides further supporting evidence for the pathogenic impact of the KMT2B c.6210_6213delTGAG variant. The Korean Movement Disorder Society 2023-01 2022-12-20 /pmc/articles/PMC9978264/ /pubmed/36537064 http://dx.doi.org/10.14802/jmd.22109 Text en Copyright © 2023 The Korean Movement Disorder Society https://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/ (https://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
Closas, Alfand Marl F. Dy
Lohmann, Katja
Tan, Ai Huey
Ibrahim, Norlinah Mohamed
Lim, Jia Lun
Tay, Yi Wen
Muthusamy, Kalai Arasu
Ahmad-Annuar, Azlina Binti
Klein, Christine
Lim, Shen-Yang
A KMT2B Frameshift Variant Causing Focal Dystonia Restricted to the Oromandibular Region After Long-Term Follow-up
title A KMT2B Frameshift Variant Causing Focal Dystonia Restricted to the Oromandibular Region After Long-Term Follow-up
title_full A KMT2B Frameshift Variant Causing Focal Dystonia Restricted to the Oromandibular Region After Long-Term Follow-up
title_fullStr A KMT2B Frameshift Variant Causing Focal Dystonia Restricted to the Oromandibular Region After Long-Term Follow-up
title_full_unstemmed A KMT2B Frameshift Variant Causing Focal Dystonia Restricted to the Oromandibular Region After Long-Term Follow-up
title_short A KMT2B Frameshift Variant Causing Focal Dystonia Restricted to the Oromandibular Region After Long-Term Follow-up
title_sort kmt2b frameshift variant causing focal dystonia restricted to the oromandibular region after long-term follow-up
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9978264/
https://www.ncbi.nlm.nih.gov/pubmed/36537064
http://dx.doi.org/10.14802/jmd.22109
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