At least fifty Quebecers are struggling with a very special, rare syndrome: they can’t control their hands and fingers, which automatically mimic the other member’s gesture. It’s called “mirror movements”.
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“He can’t help it! notes Valérie Lavastre about her 14-year-old son with the syndrome. There is always a subtle movement.”
Young Samuel Quintal was first met at his home in Sainte-Julie and is suffering from a mild form. However, simple gestures make it possible to quickly understand the syndrome and how it can complicate everyday life.
The other fingers do the same
When turning a doorknob, the other hand performs the same turning motion. On the other hand, when he writes on a computer or with a pencil, his fingers try to imitate the gesture.
“It doesn’t bother me,” assures the teenager, who has always lived with the syndrome. When I throw the ball in baseball, my mitt sticks to me.
“It’s not a circus animal, it’s just funny. It’s more of a curiosity,” says her mother, whose two daughters are unaffected.
Buttoning your shirt, tying your shoelaces, exercising or playing an instrument: all sorts of everyday activities can bother patients with this syndrome, however, according to a major breakthrough study by researchers from Montreal (see text below).
About fifty Quebecers currently have an official diagnosis, but there are likely more.
Arms, hands, and fingers are generally affected (less often, legs). The severity of the symptoms varies from person to person. In some cases, patients develop arm pain because they put pressure on the arm to prevent the mirror effect.
“Even if you focus, you can’t control it,” explains Frédéric Charron, who studies the disease at the Montreal Clinical Research Institute.
“There are people for whom manual tasks are forgotten. They’ll never be the smartest,” he admits.
Because it is a rare condition, it can take years to diagnose. Nevertheless, children show symptoms from an early age.
Also, it took Mrs. Lavastre years to get answers for Samuel, although she noticed that something was always wrong. He finally received his diagnosis in January 2022.
little-known disease
“I talked about it, but nobody listened to me and didn’t know anything about it,” laments the 48-year-old. It stayed in my head the whole time.”
Thanks to this statement, she hopes that other people will be able to diagnose her unknown syndrome.
“Samuel, that doesn’t stop him from going about his daily business. But we want to make the disease known and take part in clinical studies,” says the mother.
“It’s not that bad, it doesn’t change anything about what we do,” says Samuel.
A less rare disease than we think in Quebec
A new gene responsible for “mirror motion” syndrome has just 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 gold mine,” responds Frédéric Charron, director of the research unit Molecular Biology of Neuronal Development at the Montreal Clinical Research Institute.
Photo courtesy of Hélène Lambin
dr Frédéric Charron, Director of the Research Unit Molecular Biology of Neuronal Development at the Montreal Clinical Research Institute. He specializes in mirror motion diseases.
The latter and his team were able to identify a genetic mutation as the origin of the rare disease, which theoretically affects one in a million people. The news was published in the journal Science Advances last Friday.
Less rare than expected
In Quebec in particular, the number of people affected would be greater due to the lack of historical genetic diversity. Currently at least 50 patients (children and adults) have been treated by Dr. Myriam Srour, a neurologist at Montreal Children’s Hospital who works with Mr Charron.
The hereditary genetic disease already manifests itself in the first months of life. The diagnosis can be made with a simple blood test.
To identify a new gene responsible, the researchers observed the genetic background of a four-generation Italian family, all of whom had the disease.
Fortunately, the symptoms do not worsen over time, nor do they lead to other associated disorders.
Favorable diagnosis
According to Mr. Charron, this discovery helps to better understand the disease and the diagnosis makes a big difference for patients even when there is no treatment.
“Uncertainty often comes with a certain mental strain,” he says. It is comforting to know that you are no longer insecure.
In the longer term, the research team hopes that these breakthroughs will help to better understand other disorders of the nervous system, such as autism or schizophrenia.
What is mirror motion disease?
- It is an inherited genetic condition caused by mutation of a gene.
- Connections are made on the wrong side of the brain, resulting in involuntary movements.
- The syndrome affects one in a million people (although more in Quebec).
- The upper limbs (arms, hands, fingers) are particularly affected.
- Ex.: The left arm imitates the right arm (mirror effect).
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