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Clinical phenotypes, genotypes and treatment in Chinese dystonia patients with KMT2B variants.

Parkinsonism & related disorders - 1 Aug 2020

Li Xin-Yao, Dai Li-Fang, Wan Xin-Hua, Guo Yi, Dai Yi, Li Shang-Lin, Fang Fang, Wang Xiao-Hui, Zhang Wei-Hua, Liu Ting-Hong, Xie Zi-Hang, Fang Tie, Wang Lin, Ding Chang-Hong

Abstract excerpt

BACKGROUND: KMT2B-related dystonia is a recently discovered hereditary dystonia that mostly occurs in childhood. This dystonia usually progresses to generalized dystonia with cervical, cranial, pharynx and larynx involvement. Our study summarizes genotype-phenotype features and deep brain stimulation (DBS) efficacy observed with KMT2B-related dystonia patients in China. METHODS: We identified 20 patients with...

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PMID: 32634684
DOI: 10.1016/j.parkreldis.2020.06.002

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