J Mov Disord.
2023 Jan;16(1):91-94. 10.14802/jmd.22109.
A KMT2B Frameshift Variant Causing Focal Dystonia Restricted to the Oromandibular Region After Long-Term Follow-up
- Closas AMFD
1,2 - Lohmann K3
- Tan AH1,2
- Ibrahim NM4
- Lim JL2,5
- Tay YW2,5
- Muthusamy KA6
- Ahmad-Annuar AB5
- Klein C3
- Lim SY1,2*
- Affiliations
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- 1Division of Neurology, Department of Medicine, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia
- 2The Mah Pooi Soo and Tan Chin Nam Centre for Parkinson’s and Related Disorders, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia
- 3Institute of Neurogenetics, University of Luebeck, Luebeck, Germany
- 44Neurology Unit, Department of Medicine, Faculty of Medicine, The National University of Malaysia, Kuala Lumpur, Malaysia
- 5Department of Biomedical Science, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia
- 6Division of Neurosurgery, Department of Surgery, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia
- KMID: 2539026
- DOI: http://doi.org/10.14802/jmd.22109
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.
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