Dystonia caused by a mutation in the KMT2B gene

Dystonia due to the KMT2B mutation (DYT-KMT2B) is a relatively common cause of progressive generalized dystonia in children; it can potentially account for up to 10-20% of cases of generalized dystonia with early onset. However, only one case of DYT-KMT2B has been reported In Russia to date. Determining the genetic variant and assessing clinical manifestations can help identify this dystonia and determine the indications for drug treatment, including botulinum therapy and neurosurgical intervention. We present a clinical case of a girl with a DYT-KMT2B onset at the age of 6 years and a review of the literature.