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

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.

Source: Parkinsonism and Related Disorders - June 7, 2020 Category: Neurology Authors: Xin-yao Li, Li-fang Dai, Xin-hua Wan, Yi Guo, Yi Dai, Shang-lin Li, Fang Fang, Xiao-hui Wang, Wei-hua Zhang, Ting-hong Liu, Zi-hang Xie, Tie Fang, Lin Wang, Chang-hong Ding Source Type: research