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Dystonia: stepping out of the shadow of Parkinson's disease

Matthew Sheppard, 12, seen with his mother Cathy, suffers from dystonia, a movement disorder that interferes with his ability to perform daily tasks.

Kevin Van Paassen/Kevin Van Paassen/The Globe and Mail

Matthew Sheppard can spend hours playing the video game Minecraft, but he has trouble pouring water into a glass. Like other 13-year-old boys, he loves hurtling through nature on an ATV. But when a waitress asks for his order, he blinks uncontrollably and shakes all over.

Matthew has dystonia, a movement disorder that causes involuntary muscle contractions and spasms.

Tremors rattle through his body, especially when he's nervous, says his mother, Cathy Sheppard. His inability to write, feed himself and perform other simple tasks has put him behind in school and affected his emotional health, she adds.

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Matthew hasn't reacted well to medications used to treat dystonia, but the Sheppards, who live in Toronto, are hopeful that brain surgery will help. Research has shown that deep brain stimulation, in which an implanted device sends electrical signals to the brain, can lessen the symptoms of dystonia in some patients.

If a battery of tests reveals he is a good candidate, Matthew may be booked for the surgery before next summer.

Ms. Sheppard realizes that deep brain stimulation is not a cure, but, she says, "I'm crossing my fingers that it will improve Matthew's life enough that he won't shake whenever someone looks at him."

Dystonia affects tens of thousands of Canadians and is the most common movement disorder after Parkinson's disease. Nevertheless, dystonia is little known by the public as well as general practitioners, says Robert Chen, a neurologist at the Morton and Gloria Shulman Centre for Movement Disorders at Toronto Western Hospital.

Although awareness is growing, Dr. Chen says, "many doctors are not well aware of the symptoms and signs of dystonia." He adds that family doctors sometimes mistake it for anxiety, depression or abnormalities in the neck and spine.

Dystonia causes involuntary muscle contractions that force the body into repetitive and often twisting movements. The condition may affect a single body part, such as a hand or foot, or multiple areas including the limbs and torso.

Symptoms may be mild, such as "writer's cramp," or severe enough to interfere with a patient's ability to walk, talk and function in daily life. For example, dystonia of the eyes can force them to blink incessantly or remain shut, leaving the patient functionally blind.

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Dystonia takes many forms, of which some are heredity. Others are caused by repetitive motions, such as playing an instrument, or result from taking certain medications, including anti-psychotics. "In some cases we don't know what caused it," Dr. Chen says.

Primary dystonia may appear in childhood or adulthood, while secondary dystonia may develop with other conditions and diseases, including stroke and Huntington's disease. In the case of actor Michael J. Fox, Parkinson's disease is his main diagnosis but dystonia is responsible for his uneven gait.

There is no cure for it and treatment options are limited.

Injections of botulinum toxin A (Botox) can help relax muscles in patients with dystonia focused in a specific area, such as the hands or feet. But results are short lived and injections must be repeated every three or four months.

Wendy Paul, 61, says Botox injections have done little to improve her dystonia of the ankle and foot. Diagnosed at age 31, Ms. Paul has tried everything from physiotherapy to energy healing, she says, but therapies have been unsuccessful aside from improving her balance.

People with dystonia often feel isolated because of the stigma of being unable to stand up straight or walk normally, says Ms. Paul, president of the Toronto Chapter of Dystonia Medical Research Foundation Canada. Many are vulnerable to snake-oil remedies, she adds. "We're a desperate lot, we dystonic people."

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Some patients improve with medication, including drugs that affect neurotransmitters such as dopamine, Dr. Chen says. Others benefit from deep brain stimulation, which involves drilling holes into the skull, implanting electrodes in the brain and inserting wires that connect them with a modulator and battery pack in the chest.

A study published in October, 2011, in the journal Movement Disorders, concluded that the brain's plasticity – its ability to change in reaction to new input – may explain why patients with dystonia show gradual improvement with deep brain stimulation.

"I think in most patients with primary dystonia, it's quite effective," Dr. Chen says.

William Orlowski, an award-winning Canadian tap dancer, says dystonia cut his career short in the mid-1990s and progressed until he was wheelchair-bound. Diagnosed with generalized dystonia, which affects muscles throughout the body, Mr. Orlowski underwent a 10-hour surgery for deep brain stimulation in 2006.

Mr. Orlowski, now 59, says he made a remarkable recovery after the procedure. Soon, he was able to walk, and a year later, he performed a simple tap routine at an international music festival in Bamfield, B.C., on Vancouver Island.

But his condition has deteriorated since then, he says. Mr. Orlowski has limited use of his feet and relies on powerful muscle relaxants and anti-seizure medications to allow him to continue working as a teacher, choreographer and Chinese brush painter. Recently, he dislocated his shoulder after a bad fall. "Getting out of the bed in the morning is really difficult," he says.

Nevertheless, Mr. Orlowski describes the surgery as a "miracle." Over the long term, deep brain stimulation has resulted in a 60-per-cent improvement in his symptoms, he says.

Being awake during the surgery was unnerving, he adds, but "you don't remember it as a nightmare but as a help."

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About the Author

Adriana Barton is based in The Globe and Mail’s Vancouver bureau. Her article on growing up with counterculture parents is published in a McGraw-Hill anthology, right after an essay by Margaret Atwood. She wishes her last name didn’t start with B. More

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