I can't live without coffee! This rare genetic disease can only be saved by coffee.

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For many people who always have a cup of coffee in their lives, they may laugh and say they can't live without coffee, but for the 11-year-old French boy, it's no joke.

The whole thing started with a sick child who drank two cups of coffee every day.

Prescription note: coffee

In France, a pair of parents, in order to take care of their son with a rare genetic disease called dyskinesia, made him an espresso every day according to the prescription and fixed in the morning and evening to stop his muscle spasm. But a few weeks ago, coffee suddenly lost its effect.

The coffee you bought is not coffee.

This caused the boy to experience uncontrollable and painful muscle spasms for four days, and it was not until the doctor visited that the parents discovered the reason: they bought a decaffeinated version of the coffee capsule.

The parents usually buy coffee capsules to make coffee, but this time they accidentally bought a decaffeinated version.

Double-blind experiment of inadvertently inserting willow

Of course, after discovering the reason, the boy continued to drink caffeinated coffee, and Emmanuel Flamand-Roze, a doctor at Pitie-Salpetriere Hospital in Paris, published the findings in the Annals of Internal Medicine (Annals of Internal Medicine) on Tuesday (11th).

The whole thing attracted Flamandros's interest only because the family inadvertently confirmed the effect of coffee on muscle spasms in a "double-blind placebo experiment."

Rare genetic diseases can occur without warning.

The boy suffers from genetic ADCY5-related dyskinesia, a rare genetic disease that can lead to muscle seizures without warning, and there is currently no cure for it. "the hands, feet and face suddenly start to move strongly, so he can't ride a bike or even walk home," Flamandros said. Because seizures can happen at any time. "ADCY5-related motor dyskinesia is about 1/1000000 of the rare disease, and it is not clear how to treat it.

Among the patients they diagnosed, it was not the only one who relied on coffee to control their symptoms. Another father and daughter with ADCY5 mutation-related dyskinesia, who also have paroxysmal symptoms at night, dare to sleep only after drinking coffee, contrary to the insomnia caused by drinking too much coffee, which allows them to have a good night's sleep.

If you want to know whether the prescribed drug is useful, actually conducting a controlled trial is the fastest result.

I know it, but I haven't tried it.

Flamandros points out that although doctors have always known that high concentrations of coffee help relieve muscle epilepsy in patients, coffee has been used as a prescription for years. However, because it is a rare genetic disease, they have not been able to gather enough patients for controlled trials (ideally, one group is given a "drug" and the other group is given a similar-looking "placebo" to test the effects of caffeine), and such experiments also involve ethical concerns.

A surprising accident.

So Flamandros points out that the parents inadvertently carried out the "double-blind placebo trial" (double-blind placebo)-meaning that neither the patient nor the person performing the trial knew whether the drug they had was authentic or a placebo that looked similar.

As for the experiment, which unwittingly carried out the results, Flamandros quipped: "this is definitely one of the many amazing surprises in the history of medicine." "

END

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