KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.

ABSTRACT: Heterozygous mutations in KMT2B are associated with an early-onset, progressive and often complex dystonia (DYT28). Key characteristics of typical disease include focal motor features at disease presentation, evolving through a caudocranial pattern into generalized dystonia, with prominent oromandibular, laryngeal and cervical involvement. Although KMT2B-related disease is emerging as one of the most common causes of early-onset genetic dystonia, much remains to be understood about the full spectrum of the disease. We describe a cohort of 53 patients with KMT2B mutations, with detailed delineation of their clinical phenotype and molecular genetic features. We report new disease presentations, including atypical patterns of dystonia evolution and a subgroup of patients with a non-dystonic n

SUBMITTER: Cif L 

PROVIDER: S-EPMC7719027 | biostudies-literature | 2020 Dec

REPOSITORIES: biostudies-literature