Little known, the essential tremor affects 300,000 people in France. A patient association takes stock of the diagnostic process.
Essential tremor is a neurological condition that is much more common than Parkinson’s disease, and yet it is much less well known. While the disease affects one in two hundred people in France, patients’ diagnostic wandering lasts an average of 14 years.
It is to make an inventory that the Association of people affected by essential tremor (Aptes) presented, this Thursday, the partial results of the survey on the health course of these patients. The final results will be unveiled at a conference organized on October 8, in Paris.
A disabling disease on a daily basis
Dr David Grabli, hospital practitioner neurologist at Pitié-Salpêtrière in Paris, explains that the pathology “is expressed by the existence of a tremor which is, moreover, the only symptom”. This is why medicine has called it “essential”. This tremor occurs in voluntary movement and will interfere with the performance of gestures, which is very disabling in daily life.
For the patient, all precise actions, such as drinking a glass of water, shaving, applying makeup, eating in public, become difficult. Fabrice Barcq, president of Aptes, was diagnosed at the age of 19. He explains that “motor handicap is rarely taken into account and social handicap even less. You have to learn to give up things that you have been doing all your life ”.
Fabrice Barcq, president of Aptes: ” I met a neurologist who explained to me what essential tremor was, that I was going to have to live with my whole life and that I learned not to be ashamed anymore.… “
Now 40 years old, the man says he has been trembling since childhood, “so I learned to live with it,” he says. The greatest danger, for Fabrice Barcq, is the weight of the gaze of others. For him, we must talk about it as much as possible and not be ashamed. Even if he admits that “sometimes there are real rejections because people do not understand, but it is rather rare”.
Late diagnosis
This disease, the cause of which we do not know, is a brain disease. “We are just beginning to understand the mechanisms, it is a disease of the brain, and the region in the brain that is particularly involved is the cerebellum,” says Dr Grabli. The essential tremor affects young people between 15-25 as well as the elderly, with a peak of the disease around 60 years.
In France, 300,000 people are affected, as many men as women, and each year, 600 new cases are diagnosed. Of these, 60% of patients saw abnormal movements appear before the age of 40, and for 4 in 10 people, it was before the age of 20. The diagnosis is made by a clinical examination carried out by a specialist.
Identify genetic abnormalities
The disease is progressive. The hands are often affected first, then over time, the tremors will spread to all the upper limbs, the throat and the neck, where it manifests itself either by a movement of affirmation, or of negation.
In advanced forms, the pathology can affect the whole body. “It’s not a life-threatening disease,” says the neurologist. But functional discomfort weighs heavily on the daily lives of patients ”.
Although there is currently no treatment for the disease itself, beta blockers and antiepileptics can alleviate symptoms. For Dr Grabli, “the interest of research is to develop symptomatic treatment”. But for that, it is necessary to be able to identify the genetic anomaly, but also to elucidate the mechanisms in the brain responsible for the tremors.
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