Miss France's illness: “Unknown, underdiagnosed, with effective treatments”, what do we know about paroxysmal dyskinesia ?

Eve Gilles souffre d’une maladie rare. Midi Libre – ALEXIS BETHUNE

Eve Gilles, qui rendra sa couronne de Miss France le 14 décembre prochain, a révélé souffrir de dyskinésie paroxystique. Agathe Roubertie, cheffe du service de neurologie pédiatrique du CHU de Montpellier, fait le point sur la prise en charge de cette maladie rare.

Agathe Roubertie is one of the few pediatric specialists on the disease in France, specializing in childhood movement disorders. She follows around thirty patients with paroxysmal dyskinesias.

Professor Agathe de Roubertie (center) in her department at Gui-de-Chauliac hospital. Midi Libre – MICHAEL ESDOURRUBAILH

Paroxysmal dyskinesia, from which Eve Gilles, Miss France 2024, suffers, is a disease that manifests itself quietly in childhood.

It most often begins in childhood. I see patients often aged three to ten years old. There are different forms of this pathology. But what characterizes it are sudden episodes, called paroxysmal, often lasting a few seconds, sometimes a few minutes, sometimes a few hours, of uncontrolled movements, without loss of consciousness.

Of any part of the body ?

The arms, legs, trunk, neck or face, different parts of the body, or even the whole body.

Some patients have very rare attacks, a few per year, and the pathology can then go unnoticed. Others have very frequent, brief attacks that they don't understand very well, and that they sometimes manage to hide.

These are symptoms that don't prevent you from driving, you don't fall off your bike, it's mainly the way other people look at you that is annoying.

What is the origin of ?

These are symptoms that can be observed in brain lesion pathologies (i.e. an injury, damage to the brain). For example, in patients with multiple sclerosis, in people who have had a stroke (cerebrovascular accident), or in patients who have had a head trauma with brain lesions.

But the most common forms in children are genetic, often inherited from a parent.

“We often think of epileptic seizures”

The prevalence figures are very vague: a person in 150,000 to one in a million…

That’s right, because it is estimated that patients are underdiagnosed. I think there are patients who don’t really know what’s happening to them: they have seizures, but there is no diagnosis made and no treatment offered.

How do children come to your department?

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Often, it is the parents who notice it. The manifestations are brief, and we often think of epileptic seizures. Patients come to my department because the treatment is not working and the symptoms persist. Sometimes, patients are referred because tics are mentioned, however, paroxysmal dyskinesia attacks are longer than tics.

What tests are then necessary?

If the question is “Is it an epileptic seizure”, we do an electroencephalogram. We will always do a brain imaging to know if there is not a lesion. Then we will do a genetic study.

Who will confirm that it is paroxysmal dyskinesia ?

Confirmation is clinical observation and medical expertise. We often do not see the episodes during the consultation, so I very often ask the parents to send me videos. In the absence of a lesion on the MRI, the genetic study will determine the type of paroxysmal dyskinesia. There are also familial forms, and it is sometimes the diagnosis in a patient that allows the diagnosis to be made in one of his parents, although the manifestations in him may have, until now, gone unnoticed by those around him.

“Coffee, tea, stress… can trigger an attack”

All patients are different…

Including in the manifestations of the disease: in some patients they arise spontaneously, in others they are triggered by a sudden movement. For example, the child sits on his chair and triggers an attack of paroxysmal dyskinesia when he gets up to go to the board. Or when getting up from the table, getting out of the car…

In other patients, the triggers will be prolonged muscular exercise, walking for example.

Finally, it may be after drinking coffee, tea, an emotion, stress, alcohol.

Have we identified the mechanism of the “crises”? ?

The area of ​​the brain involved is not the same as in epileptic seizures. The attacks are probably linked to a particular functioning of very small parts of the brain, in the center, which are called the central gray nuclei and which are used for the coordination and harmonization of movement. A dysfunction of the circuits at this level probably generates these attacks of uncontrolled movements.

How is it treated? ?

It all depends on the type of seizure and the genetic characteristics of the patients.

There are several possible treatments. Some patients will be improved by taking very small doses of antiepileptics. There is a form that responds to caffeine. There are really varied forms.

Initially, we choose the treatment that has the fewest side effects, and which is most often effective, while waiting to have the genetic results. The most frequent forms respond well to medication, there are patients who no longer have any attacks, with very small doses of medication. But we do not always find an effective treatment.

And finally there are patients who have moderate forms and who do not want treatment. They learned to live with it.

An impact on self-esteem

Can we treat with brain implants??

We can offer deep brain stimulation in very specific forms that do not respond to drug treatment, and for which the attacks are severe.

And if we do not treat ourselves, the situation gets worse??

No, but these manifestations can impact on self-esteem. The way others look at you, and not knowing what you are suffering from, can sometimes be detrimental.

What is the evolution over time? ?

There are patients who see their situation improve over time, and others who will continue to have attacks throughout their lives. Patients who have brief seizures end up feeling them coming, and sometimes being able to control them, and hide them.

What we need to remember is that this is a little-known, under-diagnosed pathology that is accessible to effective treatments in the majority of cases.

What the research focuses on ?

Understanding what happens in the brain to trigger these seizures is notably the work that I am doing with my Parisian colleague Professor Emmanuel Flamand-Roze.

And we do not know all the genetic causes, we do not know all the genes responsible, nor all the processes that generate these attacks in the brain, so there are still much to learn to help patients.

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