Coffee can be the key to treating a rare disease

The patient is an 11 year old boy diagnosed with dyskinesia linked to a gene called ADCY5. His story is told this Monday by French doctors in the magazine Annals of Internal Medicine.

"It's a rare disease, we do not even know the exact number of cases, but it must be in the order of one in a million births"explains to AFP the doctor Emmanuel Flamand-Roze, one of the authors of the article.

Patients are victims of abnormal movements, a disorder that makes them physically incapable. There is no treatment.

"The arms, legs and face start to move exacerbated, this child could not go cycling or even walk home from school, because a crisis can occur at any time," he said. declared Dr. Flamand-Roze. , neurologist at the Paris hospital Pitié-Salpêtrière.

The doctors prescribed coffee. "Several years ago, we prescribed it, because other patients said it worked against these movements."

While giving coffee to a child may seem incongruous, his parents, from Madagascar, a country where this drink is used to combat certain ailments, are immediately accepted.

The child started taking two espresso a day. The effect was fast: it lasted 7 hours and the movements disappeared almost completely. But after several weeks, the parents contacted the doctors because the coffee was no longer working.

But When they realized that they had bought decaffeinated coffee, they corrected the mistake and the movements again disappeared. Without searching for it, the parents provided the missing evidence to scientifically prove the effectiveness of the coffee.

In reality, They did what is scientifically called a double-blind test, allowing Compare the effectiveness of a drug with a placebo without the patient or the administrator of the treatment knowing which of the two is being administered.

This story "is one of the extraordinary risks of the history of medicine", Dr. Flamand-Roze smiled.

In light of this case, the doctors involved advise the consumption of caffeine for all patients with this type of dyskinesia.

"Even if it was a baby with this disease, I would administer coffee", according to the neurologist, he treats a dozen patients of all ages with this disease.

The effectiveness of the drink is explained by the fact that Caffeine binds to ADCY5-related receptors. This is very present in a deep region of the brain that controls movement.

"In this disease, the proteins act too much and the caffeine reduces its activity", explains the doctor. However, coffee only works for this type of dyskinesia.