What question did this study set out to answer?

To explore the connection between the KMT2B gene mutation and Dystonia in children.

January 14, 2026S S Korsakov Journal of Neurology and Psychiatry0 citations

Dystonia caused by a mutation in the KMT2B gene

ZZZA ZalyalovaKazan State Medical University AKA.N. KhabibrakhmanovKazan State Medical University

Key Points

To explore the connection between the KMT2B gene mutation and Dystonia in children.
Clinical presentation of a case study involving a girl with DYT-KMT2B onset at age 6.
Review of existing literature on DYT-KMT2B and its prevalence.
Identified a KMT2B mutation as a common cause of early onset generalized Dystonia.
Assessed the potential for drug treatment including botulinum therapy and neurosurgical intervention.

Abstract

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.

Ask AI

Helpful

Bookmark

View Full Paper