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Fluke experiment finds espresso quells child’s rare genetic disease

cup of joe

MILAN – Espresso coffee helps 11-year-old boy living in France to get rid of a rare genetic disease. Dyskinesia, caused by a defect in the gene ADCY5, is that a person involuntarily set in motion the muscles of the hands, feet and face. Pathology is rare – about one case out of a million.

Currently, the scientific community does not know how to overcome the disease.
When his parents accidentally bought decaffeinated capsules recently, a rare genetic muscular disorder—which they knew could be held in check by two shots of espresso per day—flared up, provoking uncontrollable and painful muscle spasms.

FRANKE
HOST

Four days of agony, anguish and doctor’s visits followed before his parents realised their mistake.

Once the boy started drinking the caffeinated brew again, the symptoms subsided.

“It’s one of those amazing cases of serendipity that dot the history of medicine,” said Emmanuel Flamand-Roze, a doctor at Pitie-Salpetriere Hospital in Paris and lead author of a study published Tuesday about the disease afflicting his patient.

Unwittingly, Flamand-Roze told AFP, the parents had carried out what scientists called a double-blind placebo experiment—the most rigorous test possible to see if a drug or treatment actually works.