Intrathecal Baclofen As an Effective Antidystonic Treatment Option in Patients with ARX-mutation: A Case Report

Introduction: Mutations in the X-chromosomal ARX (Aristaless-related homeobox)—gene cause epilepsy, genital malformations, mental retardation, structural brain malformations, and also dystonia. Dystonia in patients with ARX mutations is often severe, may be difficult to distinguish from epileptic seizures and significantly impairs the patients’ daily activities and quality of life. We report our experience with intrathecal Baclofen as an antidystonic therapeutic approach in a patient with ARX mutation.