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Home » Dystonia » Scientists Find a New Genetic Cause for Dystonia… and a Possible Treatment
Home » Dystonia » Scientists Find a New Genetic Cause for Dystonia… and a Possible Treatment

Scientists Find a New Genetic Cause for Dystonia… and a Possible Treatment

Ronald Ledsen

  • September 1, 2017
  • Dystonia, Rare Disease
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.

So even though there’s a lot more work to be done to put these findings into larger practice, it does provide a solid justification for ongoing research into the genetic profiling of different diseases. Here’s hoping more researchers get the financing and encouragement they need to make more great discoveries like this one!

Read more about this groundbreaking research here. Know of any genetic research that’s worth sharing? Please post on Patient Worthy.
Ronald Ledsen

Ronald Ledsen

After emigrating from his native Sweden, Ronald spent a stint in the Merchant Marines while trying to work out what he wanted to do with his life. He discovered a love of writing while helping a friend write anonymous Harry Potter fan-fiction online; he discovered meaning to his writing when he began journaling after an anxiety disorder diagnosis. Ronald is most relaxed when spending quiet time with his wife, two sons, and hyperactive cat.

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