Abstract
Mutations in KMT2B were first identified in individuals withearly-onset complex dystonia. Since then, it is emerging as one of the most common causes of genetic childhood-onset dystonia. Additional features include short stature, dysmorphism, developmental delay, psychiatric features, endocrinopathy and others. Patients with DYT-KMT2B refractory generalized dys-tonia maintain significant benefit from internal globus pallidus deep brain stimulation (GPi-DBS) therapy as previously reported, except for laryngeal dystonia and gait.