Understanding dystonia

For 16-year-old Madina, sitting up straight and keeping her eyes open as she does in our cover photo is a rare achievement. She, like thousands of others in Flanders, suffers from dystonia, a condition that means she struggles to control her muscles, to sit upright or to even talk.

There are many more like Madina, including Greet Ruelens from Antwerp, who had to search for four years and travel to the US to find a doctor who recognised the neurological movement disorder that was pulling at the muscles in her neck.

Although it is estimated that around 10,000 Belgians suffer from dystonia, little or no research into the condition was taking place here. But now the Foundation for Dystonia Research set up by Ruelens and her wife has joined forces with the Flemish Institute for Biotechnology (VIB) and the University of Leuven (KUL) to establish a research lab. And Flemish photographer Lieve Blancquaert has taken a series of portraits of dystonia patients in the hope of raising awareness among medical professionals and the general public.

It was as a child that Ruelens, now 53, noticed the first signs of the disorder that was going to affect her later life. “I was seen as a very nervous child because my head often shook uncontrollably,” she recalls. “Stressful situations made this ‘tic’ worse; I remember what a hell it was to sing or to recite a text in front of the class.”

Growing up, the symptoms hindered her daily life. “I often knocked over things such as glasses, which made me look very clumsy. Although I followed courses, I could never control my finger movements enough to be able to type. I was also often inexplicably tired.”

Through constant practice and willpower, she succeeded in steadying her hand to become a graphic designer. With her wife, designer Lieve Van Gorp, she developed a flourishing fashion label.

About 15 years ago, Ruelens’ physical problems increased. “After a normal working day at our label, my neck was terribly stiff , and my whole body was shaking violently – seemingly from exhaustion,” she says. In the following years, the disorder made work impossible. The muscles in her neck started pulling her head back in a painful cramp, until she could no longer sit up straight.

Labelled a hypochondriac

But none of the doctors who examined Ruelens detected the cause of her agony. “Because I was always tired, some thought I had chronic fatigue syndrome, while others assured me I was just stressed,” she says. “When I kept on returning, the doctors started to think I was a hypochondriac.”

After four years of visiting doctors and eventually reading about the symptoms of dystonia, Ruelens finally received the correct diagnosis in the US. “The specialist saw me coming in with my head pulled back and immediately told me I had dystonia. It was a shock but also a relief to know the origin of my troubles. ”

The doctor explained that the disorder caused her brain to send the wrong signals to her muscles. The consequent sustained muscle contractions were resulting in abnormal postures and twisting movements. In Ruelens’ case, the muscles in her neck tugged her head backwards, as though someone were pulling it with a rope.

To spare others the same experience, Ruelens and Van Gorp launched the Foundation for Dystonia Research four years ago to improve awareness of and research into dystonia. While active in the US at first, they looked for options to support a Flemish initiative. After a difficult two years, their questions were received with interest by neurologist Bart De Strooper, head of the VIB Centre for the Biology of Disease at KULeuven. Both the foundation and VIB are now investing €1 million in the work of a new research group focusing on basic dystonia research for at least the next five years.

Kinds of dystonia

Although dystonia is the third most common movement disorder after Parkinson’s Disease and essential tremor, the new lab is only one of around 20 high-level groups worldwide concentrating on basic dystonia research – and most of them are in the US. “I estimate that there are approximately 10,000 dystonia patients in Belgium, which is roughly the same number as for multiple sclerosis,” explains De Strooper. “But unlike that disease, dystonia is relatively unknown. The research is still in its initial stage and mostly combined with clinical care. This makes our project fairly unique, especially in Europe.”

Dystonia has both hereditary forms and developed forms. The latter affect people who rely on fine motor skills, and it is thought that the excessive motor training contributes to the development of dystonia. But research at the VIB centre will focus on the molecular and cellular pathology of hereditary dystonia. For this, the centre has enlisted Rose Goodchild, a British dystonia expert who previously led a research group at the University of Tennessee. Goodchild will lead a team here that will grow to around 15 researchers.

Her lab will search for the molecular and cellular defects that lie at the basis of the hereditary forms of dystonia to find out how genetic mutation disrupts the correct working of neurons. Goodchild suspects that a defect in the protein Torsin A leads to dystonia and will perform tests on mice and flies to test the hypothesis. “It is not certain whether this can lead to a quick breakthrough, but this basic research is the path we have to follow to detect the causes of dystonia,” she explains. “Once we discover a specific cause, we could convince the pharmaceutical industry to create a certain medicine.”

No immediate miracles

De Strooper, director of the Alzheimer’s department at the VIB, accepts that Goodchild cannot perform immediate miracles. He makes the comparison with the research into Alzheimer’s. “Fifteen years ago, I took part in the birth of the field of Alzheimer’s research. Today, genetic defects have been marked, and there is a definite dynamic in the research,” he says. “My expectations are that Goodchild’s group can help create a similar drive worldwide. And their findings can enhance our understanding of other disorders as well.”

Ruelens says she does not expect a cure will be discovered in her lifetime: “I only hope that improvements in treatment can improve the quality of life of patients.”

One current treatment is deep brain stimulation, which involves surgeons implanting an electrode in the brain and a stimulator under the skin elsewhere on the body. Through the stimulator’s electrical impulses, the electrodes influence brain signals.

Aside from being very expensive and not a suitable treatment for children, “this operation can, in certain cases, carry high risks,” says Goodchild. More common are regular injections with Botulinum toxin, or Botox. “Botox paralyses the nerves so they don’t react to the brain signals,” she explains. “This can, of course, also severely limit the person’s movements.”

Although it’s not ideal, Botox injections are of vital importance to dystonia patients like Ruelens. “The injections and the muscle relaxants have improved my life quality up to 50%,” she says. “With support for my head and back, I can now sit straight in my electric wheelchair and go places. I don’t have to lie down the whole time anymore. That’s why it hurts me when I hear other patients complaining that they sometimes have to wait half a year for a Botox injection at a specialist. If you don’t get it every three months, your health and comfort decline very quickly.”

Enter Lieve Blancquaert

With their foundation, Ruelens and Van Gorp want to raise awareness among medical professionals so they recognise the symptoms and apply proper care immediately and regularly. They also want to sensitise the general public “so that people realise these abnormal postures and twisting movements are the signs of a neurological disorder, like Parkinson’s disease. It’s a serious matter, not something to laugh about,” Ruelens says, emotionally.

To that end, Flemish photographer Lieve Blancquaert has shot several series of portraits of dystonia patients. The title, 1/125 sec, refers to the high shutter speed Blancquaert had to use to capture the person behind the dystonia. The shoot was a challenge not only for the photographer but also for the models. “It was hard to show to the camera what the disorder has done to my body,” explains Ruelens. “Although I feel I have developed a thick skin over the years, I almost had to cry when I saw the photos. In my mind is still the image of the woman I used to be.”

But she has not let the condition rule her life. Apart from their foundation, Ruelens and Van Gorp have also established a platform to support female artists: the Foundation for Woman Artists. “These are our two babies that we devote our energy to with a lot of love and enthusiasm,” she says, “and we enjoy life no matter what.”