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Heterozygous mutations in KMT2B are associated with an early-onset,progressive, and often complex dystonia (DYT28). Key characteristics of typicaldisease include focal motor features at disease presentation, evolving througha caudocranial pattern into generalized dystonia, with prominent oromandibular,laryngeal, and cervical involvement. Although KMT2B-related disease is emergingas one of the most common causes of early-onset genetic dystonia, much remainsto be understood about the full spectrum of the disease. We describe a cohortof 53 patients with KMT2B mutations, with detailed delineation of theirclinical phenotype and molecular genetic features. We report new diseasepresentations, including atypical patterns of dystonia evolution and a subgroupof patients with a non-dystonic neurodevelopmental phenotype. In addition tothe previously reported systemic features, our study has identifiedco-morbidities, including the risk of status dystonicus, intrauterine growthretardation, and endocrinopathies. Analysis of this study cohort (n = 53) intandem with published cases (n = 80) revealed that patients with chromosomaldeletions and protein-truncating variants had a significantly higher burden ofsystemic disease (with earlier onset of dystonia) than those with missensevariants. Eighteen individuals had detailed longitudinal data available afterinsertion of deep brain stimulation for medically refractory dystonia. Medianage at deep brain stimulation was 11.5 years (range: 4.5 to 37.0 years).Follow-up after deep brain stimulation ranged from 0.25 to 22 years.Significant improvement of motor function and disability (as assessed by theBurke-Fahn-Marsden Dystonia Rating Scales, BFMDRS-M and BFMDRS-D) was evidentat 6 months, 1 year, and last follow-up (motor, P = 0.001, P = 0.004, and P =0.012; disability, P = 0.009, P = 0.002, and P = 0.012).

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