Closas, Alfand Marl F. Dy and Lohmann, Katja and Tan, Ai Huey and Ibrahim, Norlinah Mohamed and Lim, Jia Lun and Tay, Yi Wen and Muthusamy, Kalai Arasu and Ahmad Annuar, Azlina and Klein, Christine and Lim, Shen -Yang (2023) A KMT2B frameshift variant causing focal dystonia restricted to the oromandibular region after long-term follow-up. Journal of Movement Disorders, 16 (1). 91+. ISSN 2005-940X, DOI https://doi.org/10.14802/jmd.22109.
Full text not available from this repository.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.
| Item Type: | Article |
|---|---|
| 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) |
| Uncontrolled Keywords: | DYT-KMT2B; KMT2B; Monogenic dystonia; Oromandibular dystonia |
| Subjects: | R Medicine > RC Internal medicine > RC0321 Neuroscience. Biological psychiatry. Neuropsychiatry |
| Divisions: | Faculty of Medicine Faculty of Medicine > Biomedical Science Department Faculty of Medicine > Medicine Department Faculty of Medicine > Surgery Department |
| Depositing User: | Ms Zaharah Ramly |
| Date Deposited: | 30 Nov 2023 04:21 |
| Last Modified: | 30 Nov 2023 04:21 |
| URI: | http://eprints.um.edu.my/id/eprint/38984 |
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