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KMID : 1197720230160010091
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대한파킨슨병 및 이상운동질환 학회지
2023 Volume.16 No. 1 p.91 ~ p.94
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A KMT2B Frameshift Variant Causing Focal Dystonia Restricted to the Oromandibular Region After Long-Term Follow-up
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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
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Abstract
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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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KEYWORD
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DYT-KMT2B, KMT2B, Monogenic dystonia, Oromandibular dystonia
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