Mun Jun Kyu, Kim Ah Reum, Ahn Jong Hyeon, Kim Minkyeong, Cho Jin Whan, Lee Jung-Il, Cho Kyung Rae, Youn Jinyoung
Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
Neuroscience Center, Samsung Medical Center, Seoul, Korea.
J Mov Disord. 2020 May;13(2):154-158. doi: 10.14802/jmd.19087. Epub 2020 Apr 6.
Although the KMT2B gene was identified as a causative gene for early-onset generalized dystonia, the efficacy of deep brain stimulation (DBS) in KMT2B-related dystonia has not been clearly elucidated. Here, we describe a 28-year-old woman who developed generalized dystonia with developmental delay, microcephaly, short stature, and cognitive decline. She was diagnosed with KMT2B- related dystonia using whole-exome sequencing with a heterozygous frameshift insertion of c.515dupC (p.T172fs) in the KMT2B gene. Oral medications and botulinum toxin injection were not effective. The dystonia markedly improved with bilateral pallidal DBS (the Burke-Fahn-Marsden Dystonia Rating Scale score was reduced from 30 to 5 on the dystonia movement scale and from 11 to 1 on the disability scale), and she could walk independently. From this case, we suggest that bilateral globus pallidus internus DBS can be an effective treatment option for patients with KMT2B-related generalized dystonia.
尽管KMT2B基因被确定为早发性全身性肌张力障碍的致病基因，但深部脑刺激（DBS）治疗KMT2B相关肌张力障碍的疗效尚未明确阐明。在此，我们描述一名28岁女性，她患有全身性肌张力障碍，伴有发育迟缓、小头畸形、身材矮小和认知功能下降。通过全外显子组测序，在KMT2B基因中发现了c.515dupC（p.T172fs）杂合移码插入，她被诊断为KMT2B相关肌张力障碍。口服药物和肉毒毒素注射均无效。双侧苍白球DBS使肌张力障碍明显改善（肌张力障碍运动量表上，伯克-法恩-马斯登肌张力障碍评定量表评分从30降至5，残疾量表评分从11降至1），她能够独立行走。基于此病例，我们认为双侧内侧苍白球DBS可能是KMT2B相关全身性肌张力障碍患者的有效治疗选择。
