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

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 KMT2B variations from dystonia samples...