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Experiment Reveals Caffeine Could Quell Rare Genetic Disease

An 11-year-old boy in Paris, France, literally can’t live without coffee.

His parents accidentally got decaffeinated capsules for a rare genetic muscular disorder (which they know could be held in check by two shots of espresso per day) that flared up, provoking uncontrollable and painful muscle spasms. After four days of agony, the parents learned their mistake upon visiting a doctor. The symptoms subsided after the boy began drinking the caffeinated brew again.

“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 recently published about the disease afflicting his patient.

Emmanuel Flamand-Roze, photo courtesy of neurotv.

The doctor told AFP, that the parents carried out what scientists call a double-blinded placebo experiment — one of the most meticulous tests possible to prove if a drug or treatment actually works. The “double blind” part means that neither the patient nor the persons carrying out the experiment have an idea whether the medicine is the real deal of an inert fake. In this case, the accidental test proved the efficacy of caffeine as a treatment to dyskinesia – a family of disorders characterized by violent, involuntary muscle movements – caused by a mutation in the ADCY5 gene.

“The arms, legs and face all move wildly,” Emmanuel explained. The symptoms typically appear as sudden jerks, twitches and tremors, and writhing, and usually begin between infancy and late adolescence. The movements can occur during waking hours or at night.

ADCY5-related dyskinesia is a condition also known as facial myokymia, and is sometimes misdiagnosed as cerebral palsy. There is no known cure for this one-in-a-million disease. The gene in its normal state gies instructions for making an enzyme that aids to regulate muscle contraction. The mutation disrupts that process, and caffeine helps to restore it.

Doctors had been aware for a long time that strong coffee helps quell the muscle spasms, but the condition is so rare that there are not enough patients to conduct an experiment in which one group take the “medicine,” and another imbibes a look-alike or placebo.

Such an experiment would probably raise ethical issues, since researchers would know ahead of time that the placebo group would likely suffer severe discomfort.

The study was published in the US-based Annals of Internal Medicine.

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