In a fluke experiment, an expresso suppresses a rare genetic disease

Many people say that they can not live without coffee, but for an 11-year-old boy living in France, it may be literally true.

Recently, when his parents accidentally bought decaffeinated capsules, a rare genetic muscle disorder – which they knew could be controlled by two espresso injections a day – broke out, causing uncontrollable and painful muscle spasms.

Four days of agony, anxiety and doctor visits followed before his parents realized their mistake.

Once the boy started drinking beer containing caffeine again, the symptoms disappeared.

"This is one of those incredible cases of serendipity that characterizes the history of medicine," said Emmanuel Flamand-Roze, a doctor at Pitie-Salpêtrière Hospital in Paris and lead author of a study published on Tuesday. the disease that affects his patient.

Flamand-Roze told AFP unintentionally that the parents had conducted what the scientists had called a double-blind placebo experiment: the most rigorous test possible to determine whether a drug or treatment was effective.

The "double-blind" part means that neither the patient nor the people who perform the experiment know if the drug is the real thing of a fake false dummy.

In this case, the accidental test has proven the effectiveness of caffeine in the treatment of dyskinesia, a family of disorders characterized by violent and involuntary muscle movements, caused by a mutation of the ADCY5 gene.

One in a million

"The arms, legs and face move a lot," said Flamand-Roze.

"This child could not ride a bike, walk home from school, write with a pencil, a crisis like a crisis could occur at any time."

ADCY5-related dyskinesia is about one in a million diseases and there is no known cure.

The gene in its normal state provides instructions for making an enzyme that helps regulate muscle contraction.

The mutation disrupts this process and caffeine helps to restore it.

Doctors have long known that strong coffee helps to soothe muscle spasms, but it is so rare that there are not enough patients to conduct an experiment in which a group takes the "medicine" and another soaks a look-alike – in this case, a similar taste – a placebo.

In any case, such an experiment would probably pose ethical problems, because researchers would know in advance that the placebo group would probably suffer from severe discomfort.

The disease is also known as facial myokymia and is sometimes misdiagnosed as cerebral palsy.

The symptoms usually appear as sudden jerks, nerve contractions and tremors, and wring, and usually begin between infancy and late adolescence. Movements can occur during waking hours or at night.

The problem can also hit the inside of the respiratory muscles.

The study was published in the United States. Annals of Internal Medicine.

© 2019 AFP