A KMT2B frameshift variant causing focal dystonia restricted to the oromandibular region after long-term follow-up
Document Type
Article
Publication Date
1-1-2023
Abstract
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.
Keywords
DYT-KMT2B, KMT2B, Monogenic dystonia, Oromandibular dystonia
Divisions
fac_med,biomedsc,medicinedept,surgerydept
Funders
Ministry of Education, Malaysia (Grant No: FRGS/1/2020/SKK0/UM/01/2),University of Malaya Parkinson's Disease and Movement Disorders Research Program (Grant No: PV035-2017),German Research Foundation (DFG) (Grant No: LO 1555/10-1 & KL 1134/18-1)
Publication Title
Journal of Movement Disorders
Volume
16
Issue
1
Publisher
Korean Movement Disorders Soc
Publisher Location
2011 MAPO HANWHA OBELISK, 555, DOHWA-DONG, MAPO-GU, SEOUL, 04167, SOUTH KOREA