2023-05-09 20:26:48
MONTREAL — A new genetic mutation identified by Montreal researchers is responsible for mirror movement syndrome, according to a study published by the scientific journal Science Advances.
Mirror Movement Syndrome is an inherited neurological disorder that manifests as involuntary movements from an early age, primarily in the arms and hands. In affected people, the right hand involuntarily reproduces the movements of the left hand, and vice versa.
The disorder can also affect the lower limbs, but to a lesser extent.
“That makes people who are much less skilful than the average, obviously,” said Professor Frédéric Charron, who heads the Molecular Biology of Neural Development Research Unit at the Montreal Clinical Research Institute. If we think, for example, of playing billiards, where there is one hand that absolutely must not move while the other hand must move, that makes all kinds of movements that do not go very well.
It is common knowledge that the right part of the brain controls the left part of the body, and vice versa. In a pictorial way, the mirror movement syndrome occurs when the electric wire which leaves from one side of the brain to go to the other side of the body splits and makes a detour to the wrong side, causing these involuntary movements .
Professor Charron, Dr. Myriam Srour of the Montreal Children’s Hospital and researchers Sabrina Schlienger and Patricia Yam have identified a new gene and a new mechanism responsible for this dysregulation.
They were able to reproduce, in the laboratory, the problem in genetically modified mice. These mice, Professor Charron said, struggle to move normally, for example when asked to walk on a ladder, which they should be able to do quite easily.
The intensity of the problem varies from person to person, but it is easy to imagine that this disorder can greatly interfere with the daily life of patients ― ranging from clothing to the practice of sports ― and that it can cause arm pain during prolonged activities. For example, the patient can grip the table with his left hand to prevent him from moving while he signs with his right.
“It becomes unbearable for them, at some point, to make this effort constantly,” said Professor Charron.
Mirror movement syndrome is a rare disease, but its incidence is a little more pronounced in Quebec, possibly due to the founder effect. The new results also stem from the study of a family that has been affected for four generations.
Identifying the genes involved in the syndrome is an important first step that promotes the rapid and efficient establishment of diagnoses. Patients with a rare disease, Professor Charron reminded, often have to wait a long time before receiving a diagnosis.
“It’s stressful for them to be told that we don’t know exactly what they have,” he said. But it brings them a certain inner peace to have a diagnosis, to hear that they have such a mutation known to cause the mirror movements, that their condition will remain like that and that it is not neurodegenerative.
The discovery of this mutation might also one day lead to the development of new therapies that would fix the problem before birth. But since mirror movement syndrome is not a life-threatening disease, Professor Charron pointed out, one should ensure that the consequences of the intervention would not be greater than the problem itself.
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