[VIDÉO] Quebecers suffer from a rare syndrome that makes them unable to control certain gestures

At least fifty Quebecers struggle with a certain rare syndrome: they cannot control their hands and fingers, which automatically follow the gesture of the other member. This is called “mirror motion”.

• Read more: Scientists published the first human genome

“He can’t help it! Valérie Lavastre mentions her 14-year-old son with the syndrome. There’s always a subtle movement.

Met at his home in Sainte-Julie, young Samuel Quindal is suffering from a mild form. However, simple gestures make it possible to quickly understand the syndrome and how it can complicate daily life.

Other fingers follow

When the door handle is turned, the other side performs the same rotating motion. When he writes on the computer or with a pencil, his fingers on the other hand try to reproduce the gesture.

“It doesn’t bother me, reassuring a young man who has always lived with the syndrome. When I throw a baseball, my Mid It’s sticking to me.”

“It’s not a circus animal, it’s fun. It sparks a passion,” says her mother, adding that her two daughters are unaffected.

Buttoning your shirt, tying your shoelaces, playing a sport or an instrument: all kinds of everyday activities can be distressing for patients with this syndrome, a study by Montreal researchers underscores, which has made a major breakthrough (see text below).

Currently, fifty Quebecers have an official diagnosis, but there could be more.

Usually, the arms, hands and fingers are affected (and rarely the feet). The severity of symptoms varies from person to person. In some cases, patients develop arm pain due to pressure on the glass to prevent its effect.

“Even if they pay attention, they can’t control it,” explains Frédéric Charon, who studies the disease at the Montreal Institute of Medical Research.

“There are people who do manual tasks and forget about it. They’re never going to be very efficient,” he admits.

Because it is a rare disease, diagnosis can take years. Yet children show symptoms from an early age.

By M.^me It took years for Lavastre to get answers for Samuel, but she always found that something was wrong. He was finally diagnosed in January 2022.

A little known disease

“I was talking about it, but no one listened to me and didn’t know about it,” laments the 48-year-old woman. It stuck in my head all the time.

He hopes that thanks to this testimony, others will be able to discover their unknown syndrome.

“Samuel, that didn’t stop him from going about his daily life. But we want to know the disease and participate in clinical studies,” says the mother.

“It’s not that serious and it doesn’t change anything about what we’re doing,” says Samuel.

A less rare disease in Quebec than we think

A new gene responsible for “mirror movements” syndrome has been identified by a team of Montreal researchers, a promising discovery for understanding this rare disease that affects more Quebecers than we think.

“The discovery of a new mutation is a goldmine,” replied Frédéric Charon, director of molecular biology in the Division of Neurodevelopmental Research at the Montreal Institute of Medical Research.

With his team, the latter was able to identify a genetic mutation at the origin of the rare disease, which theoretically affects one person in a million. The news about this was published in the newspaper last Friday Scientific advances.

Rarer than expected

In particular, Quebec’s lack of historical genetic diversity makes the number of victims likely to be high. Currently, at least 50 patients (children and adults) with T^D Miriam Schroer, a neurologist at Montreal Children’s Hospital, said Mr. Works with Sharon.

Hereditary genetic disease manifests from the first months of life. It can be diagnosed with a simple blood sample.

To identify a new responsible gene, the researchers looked at the genetic background of an Italian family spanning four generations, all of whom had the disease.

Fortunately, symptoms do not worsen over time, or lead to other related illnesses.

Effective diagnosis

Mr. According to Saron, this discovery helps to better understand the disease and, even if there is no cure, the diagnosis makes a big difference for patients.

“Often, uncertainty carries a certain psychological weight,” he says. It helps to know, no longer in uncertainty.

In the long term, the research team hopes that these advances will help better understand other diseases of the nervous system, such as autism or schizophrenia.

What is vitreoretinal disease?

• It is an inherited genetic disease caused by a genetic mutation.
• Connections are made on the wrong side of the brain, resulting in involuntary movement.
• The syndrome affects one in 1 million (but higher in Quebec).
• It mainly affects the upper limbs (arms, hands, fingers).
• Eg: Left hand follows right hand (mirror effect).