A team of researchers at the University College of London (UCL) looking at the genome of childhood-onset dystonia patients has stumbled on a startling discovery: 28 of the patients had a previously unknown mutation in a specific gene—KMT2B—which may be responsible for an entirely new movement disorder.
Better yet, as detailed in The Science Explorer, some of these patients responded to Deep Brain Stimulation, a type of treatment that uses electrical impulses to stimulate targeted areas of the brain.
These patients showed improvements in hand and arm movement, and in some cases, patients who had lost the ability to walk were able to walk again! One patient began walking unassisted two weeks after starting treatment. While the length of time patients were able to walk varied, at least one was still walking six years later.
This is an incredibly promising development, and underscores what can be possible thanks to genetic testing and research. While it obviously won’t benefit every dystonia patient, the British team responsible for the discovery—made up of researchers representing the UCL Great Ormond Street Institute of Child Health, University of Cambridge and the National Institute for Health Research (NIHR) Rare Disease Bioresource—are hoping that testing for the gene will be integrated into standard dystonia testing. They also hope that more patients who haven’t responded to traditional dystonia treatments might be considered for DBS.
The discovery also shows how genomic research can yield a more precise diagnosis: many of the patients identified as having the mutated KMT2B gene were originally told they have cerebral palsy.
