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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Detalles Bibliográficos
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
Descripción
Sumario: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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