A Movement for Dystonia

Ground-breaking research at Great Ormond Street Hospital (GOSH) is giving answers to Katie and other children who have a rare movement disorder.

Katie’s condition has played a key role in advancing scientific research at the hospital. She has a diagnosis of dystonia — uncontrollable muscle spasms caused by incorrect signals from the brain.

This forces the body into twisting, repetitive movements. Common dystonic patterns include toe-walking, foot clawing, hand or arm-twisting, torticollis – a deviation of the neck – and quietening of the voice.

Katie’s problems began at the age of two but it wasn’t until she was referred to GOSH at the age of seven that she finally got a diagnosis.

A huge impact

Her family met with Dr Manju Kurian, Paediatric Neurologist and Wellcome Trust-funded UCL clinician scientist at the hospital. “Once we got to Dr Kurian, we just knew Katie would be looked after – she knew her stuff,” says Katie’s mum Sarah.

“We felt we weren’t at the end of the line when we came to her.”

For the past five years, Dr Kurian has been working to understand what causes different types of dystonia. This condition has a huge impact on a child’s quality of life. It can be painful – children with the condition have difficulty walking and often have to use a wheelchair. If their hands are affected, it’s difficult for them to pick things up or to write, which makes it harder to study.

Genetic links

Dr Kurian’s team took DNA from their patients and, where possible, from their parents and siblings. They started by looking at a test called a Macroarray, which looks at whether people have too much or too little genetic material. 

Some children in the group had a loss of part of the genetic material on chromosome 19. What’s more, the deletion in chromosome 19 was in the same place for many of these children.

"When we found that overlapping region on chromosome 19,we thought that the gene must be in there." explains Dr Kurian. "And that's how we found it. Within that region, there were only two genes that could have been the answer

Promising new treatment

Sarah remembers the difficult first years with Katie: “The type of dystonia that Katie was diagnosed with meant that she was declining. She used to be able to ride a bike, skip and hop but she lost the ability to do all these things over the years.”

Unfortunately, there’s no cure for most forms of dystonia, but there are ways of treating the symptoms. One way – for some patients – is through a procedure called deep brain stimulation. This is a treatment where small wires are placed in the part of the brain that controls movement, known as the basal ganglia. These stimulate the movement centre of the brain via a power pack implanted in the patient’s chest, similar to a pacemaker.

“No one knows exactly why stimulation of that site in the brain works,” says Dr Kurian.

 “But it does seem to help treat the symptoms of dystonia. In particular, there’s a type of childhood dystonia, called DYT1 dystonia, where the results can be very dramatic.”

Ten of the children involved in Dr Manju Kurian’s work have had deep brain stimulation, and encouragingly, they have all shown considerable benefit. 

For some, the treatment either restored or significantly improved independent walking and hand and arm movement. One patient was able to walk independently within two weeks, and in five of the patients, the improvement has been sustained over time.

The Future

“I can walk a bit more,” says Katie. “Mum thinks that I’m sitting up and laying straighter.”

 “We’re one-and-a-half months on and Katie’s walking better and doesn’t need as much support,” says her mum Sarah. 

“ Her physiotheraphist is getting very excited about movements that she is able to see already. The future is bright."