Remarkable recovery in patients diagnosed with newly defined movement disorder

Researchers from the UCL GOS Institute of Child Health have discovered a new gene change that identifies a type of the movement disorder, muscle dystonia. This new discovery will allow doctors to more easily identify patients who can benefit from treatment so effective that it can restore the ability to walk.
The team from UCL Great Ormond Street Institute of Child Health, along with colleagues at the University of Cambridge and the NIHR Rare Disease Bioresource, identified a change in a gene, called KMT2B, in 28 patients who had dystonia.

Dystonia is one of the most common movement disorders and is thought to affect 70,000 people in the UK. It can cause a wide range of disabling symptoms, including painful muscle spasms and abnormal postures, and can affect walking and speech. In most of the 28 cases, the patients – many of whom were young children who were thought to have a diagnosis of cerebral palsy – were unable to walk.

For some patients, treatment with Deep Brain Stimulation, in which electrical impulses are delivered to a specific area in the brain, either restored or significantly improved independent walking and improved hand and arm movement. In one patient, improvements have been sustained over six years.

Given the findings, the team now suggest that testing for these changes in the gene should form part of standard testing for patients with dystonia. This will allow the most effective treatment to be offered to patients early on.

Dr Manju Kurian, paediatric neurologist at Great Ormond Street Hospital and lead researcher on the paper, says ‘Through DNA sequencing, we have identified a new genetic movement disorder that can be treated with Deep Brain Stimulation. This can dramatically improve the lives of children with the condition and enable them to have a wider range of movement with long-lasting effects,’

‘Remarkably nearly all patients who had Deep Brain Stimulation showed considerable improvements. One patient was able to walk independently within two weeks; in five patients, the improvement has lasted for more than three years. It is an astounding result.’

Former GOSH patient, Dominika, aged 21, was diagnosed with dystonia when she was 13 and had deep brain stimulation treatment two years ago:

When I was young I was able to speak and write normally but I started to have problems with walking when I was about 10. By the time I was 11 or 12, my walking had got worse and I started to notice my writing and speech was deteriorating.
Throughout high school, I had lots of different tests to try and find out what was wrong with me and I first came to GOSH just after my 13th birthday. They gave me lots more tests and told me that I had a type of dystonia which means my muscles aren’t working properly and I can’t move my body as well as I should.

By the time I got to the last year in high school, I was finding walking very difficult and so I started using a wheelchair because it was easier and less painful.

I was given a drug treatment for my dystonia but it didn’t seem to be making things much better so when I was 19, I was offered deep brain stimulation surgery.

Since the operation, life has been good and the surgery has really changed things for me. It has allowed me to walk around mostly unaided. I have seen a big difference with my hands – I can now write and draw, something I wasn’t able to do before. Now, I just do physiotherapy exercises at home to keep my movement as strong as possible. This has meant that I have been able to go to university and I am currently in my final year studying Computer Game Art. I get to practise my drawing using traditional and digital media, and hopefully one day I can get a job doing the two things I love best, drawing and playing video games.

Great Ormond Street Hospital for Children