AN EFFECTIVE DRUG AGAINST MYOCLONIC DYSTONIA, RARE DISEASE OF THE NERVOUS SYSTEM

Research Published April 13 2016
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A team coordinated by professor Emmanuel Flamand-Roze of the Pitié-Salpêtrière hospital, AP-HP, and researcher at the Brain and Spine Institute, has tested at the ICM Clinical Investigation Center, the efficiency of zonisamide, a drug now used to treat some forms of epilepsy, among 23 patients with a rare disease of the nervous system, myoclonic dystonia. The promising results of this study, funded by AP-HP, are published in Neurology magazine on April 6, 2016.

Myoclonic dystonia is a rare disease reflecting a poor control of movements by the brain, resulting in abnormal muscle contractions. It is reflected by two types of symptoms : muscle twitches (myoclonia) and abnormal posture of some body parts (dystonia). Unpredictable muscle twitches accompanying each of the patient’s movements represent the most disabling symptom. They usually predominate in the upper limbs and neck. Motor difficulties related to this disease can be extremely annoying in everyday life’s gestures. It is common that these clearly visible disorders lead to stigmatisation, loss of self-esteem and social withdrawal of patients. There is currently no effective drug to treat this disease. However, there is still a neurosurgical treatment with good results, but invasive and reserved to severe forms of the disease.

The scientific team, composed of doctors and researchers has conducted a randomised double-blind, placebo-controlled trial, to test the efficiency of zonisamide in 23 patients with myoclonic dystonia. Zonisamide) is a medicine which has been used in Europe for the past ten years to treat some forms of epilepsy. It is well tolerated in most patients who use it in this context.

The results of this trial show that zonisamide significantly reduced myoclonia and the related disability. Patients’ dystonia is also improved by this treatment.

“It is the first trial demonstrating the efficiency of a drug in this disease” explains Pr Flamand-Roze. “Zonisamide may therefore be offered to patients with mild to moderate myoclonic dystonia, and in all patients who do not wish or may not benefit from a neurochirugical treatment”.