Gene discovery helps children with movement disorder walk again

UCL researchers have discovered a new genetic cause for dystonia, a movement disorder, enabling treatment with Deep Brain Stimulation which has been so successful that children have been able to walk again. The team of researchers from UCL Great Ormond Street Institute of Child Health, University of Cambridge and the NIHR Rare Disease Bioresource have identified mutations in a gene, called KMT2B, in 28 patients with dystonia. In most cases, the patients - many of whom were young children who were thought to have a diagnosis of cerebral palsy - were unable to walk. Remarkably, for some patients, treatment with Deep Brain Stimulation, in which electrical impulses are delivered to a specific brain region involved in movement, either restored or significantly improved independent walking and improved hand and arm movement. In one patient, improvements have been sustained over six years. Given these observations, the team now suggest that testing for mutations in the gene should form part of standard testing for patients with dystonia, as this is emerging to be one of the commonest genetic causes of childhood-onset dystonia. The research is published.