Doctors Use Coffee to Treat Boy Whose Life Was Ruined by Genetic Disorder

A young boy with a rare genetic disorder found his symptoms eased after drinking coffee, according to scientists.

The boy had a genetic disorder known as ADCY5-related dyskinesia. Caused by mutations in the ADCY5 gene, the condition is characterized by involuntary movements, including jerking, twitching, tremors, tensing muscles and writhing that can affect the face, limbs and neck. According to the U.S. National Library of Medicine, at least 400 people have been diagnosed with the disease. However, there are likely more sufferers as the symptoms may be confused for cerebral palsy or epilepsy.

These symptoms—which usually first appear in childhood or late adolescence—can happen day or night, and triggered when a person moves or seemingly at random. Those with a severe form of the condition might have weak muscle tone, and their motor skills might develop slower than other people's.

While symptoms are stable in some patients, others will deteriorate until middle age. The symptoms can be exacerbated by stresses on the body such as tiredness and anxiety.

There is currently no treatment available for ADCY5-related dyskinesia. However, French doctors were intrigued when a father and daughter with the disorder claimed they could prevent the unwanted movements by drinking coffee.

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Close up of Cappuccino being made Getty

Doctors at the department of neurology of the Pitié-Salpêtrière Hospital and the Brain and Spinal Cord Institute, both in Paris, decided to see if coffee might help an 11-year-old boy suffering from the condition.

The child, unnamed in the case study detailed in the journal Annals of Internal Medicine, was first diagnosed at the age of 3. His face and upper limbs would involuntarily move, with episodes lasting from a few seconds to 10 minutes. Sometimes, moving would trigger the twitches, while in other instances they would come on unprovoked.

By age 11, the boy was experiencing up to 30 episodes each day, causing substantial disruption to his life, doctors said.

The boy struggled with day-to-day activities that require fine motor skills: like writing in class, walking home from school, riding his bike, or taking part in sports.

Genetic tests revealed he had ADCY5-related dyskinesia. So doctors prescribed him coffee. First, 1 cup of espresso containing around 100mg of caffeine in the afternoon, and one before bed. After 45 minutes his symptoms disappeared, with the effect lasting seven hours.

Upping the dose to two cups in the afternoon and half a cup at bedtime almost entirely wiped out his episodes. The boy could write in class, walk home from school and ride his bike again.

When his parents accidentally bought decaf coffee and were unaware of their mistake for four days, the symptoms returned. When they continued his caffeine treatment, his episodes vanished again.

His doctors said his experiences amount to a real-life, double-blind experiment, and concluded coffee is a safe treatment for ADCY5-related dyskinesia.

Doctors Use Coffee to Treat Boy Whose Life Was Ruined by Genetic Disorder | Health