Coffee is a basic necessity for a lot of people. Almost 150 million Americans drink cappuccino, espresso, latte, or iced/cold coffees every single day.
But for an 11-years-old boy living in France, it’s more than a morning beverage. He depends on two shots of espresso every day to keep his rare genetic muscular disorder at bay.
One day, his parents purchased decaffeinated capsules – rather than his usual – and his condition got worse. The young boy entered a fit of uncontrollable and painful muscle spasm.
After four days of agony and several trips to the hospital, the parents finally realized their mistake. They put the boy on his usual caffeinated brew again, and the symptoms subsided.
Speaking on the disease afflicting his patient, doctor at Pitie-Salpetriere Hospital in Paris and lead author of a study, Emmanuel Flamand-Roze said:
“It’s one of those amazing cases of serendipity that dot the history of medicine.”
How could two shots of espressos suppress a muscular disorder, you ask?
Two Shots of Espresso as Treatment For Dyskinesia
In a statement to AFP, Flamand-Roze said the parents had unintentionally performed what scientists call a double-blind placebo experiment.
It’s a rigorous test that helps researchers confirm if a treatment or drug actually works. As you may have guessed, they call it a “double-blind” because neither the patient nor the person administering the medication knows if the medicine is real or fake.
By accidentally giving the boy decaffeinated coffee, the parents inadvertently proved the efficacy of caffeine as a treatment for dyskinesia.
Dyskinesia is a family of disorders characterized by violent, involuntary muscle movements. In the boy’s case, the disease was caused by a mutation in the ADCY5 gene.
Flamand-Roze explained:
“The arms, legs, and face all move wildly. This child couldn’t ride a bike, walk home from school, write with a pencil—a seizure-like crisis could strike at any time.”
In its normal state, the gene provides instructions for making enzymes that regulate muscle contraction. With the mutation, the process is disrupted, and caffeine becomes necessary to restore it.
For so long, health experts have held the belief that strong coffee could quell the muscle spasms in ADCY5-related dyskinesia. However, the condition is so rare that they’ve never been able to get enough participants to experiment.
Besides, such an experiment would raise ethical issues. The researchers have to administer a fake treatment to a group of participants, which could cause severe discomfort.
As a result, no one had been able to act on the suspicions until now.
About ADCY5-Related Dyskinesia
ADCY5-related dyskinesia is challenging to spot. Health professionals have diagnosed only about 400 people with the disease, and its prevalence is still unknown.
One reason the disorder is underdiagnosed could be because of its resemblance to other conditions. Doctors often mistake it for cerebral palsy or epilepsy.
Symptoms of ADCY5-related dyskinesia typically include twitches and tremors, sudden jerks, as well as writhing.
Comments (0)
Most Recent