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Genetics

Updated 14 June 2019

Two cups of espresso a day - just what the doctor ordered for an 11-year-old with rare genetic disease

Some people can’t start their day without caffeine, but for one 11-year-old boy, it's so much more than just an early-morning pick-me-up.

Turns out the caffeine in your favourite daily beverage can do more than simply provide an energy boost.

For an 11-year-old French boy, who was diagnosed with ADCY5-related dyskinesia – a neurologic disorder that causes sufferers to make involuntary, Parkinson's-like movements – just over two cups of espresso a day were proven effective in treating the disorder. 

The case report, published in the Annals of Internal Medicine, note that the boy started experiencing the involuntary movements at three years old that would generally last from a few seconds to 10 minutes.

Performing activities such as walking and writing became a difficult task by the age of 11, as he was having as many as 30 episodes per day.

ADCY5

Around 400 people worldwide have been diagnosed with ADCY5. However, according to the National Centre for Biotechnology Information (NCBI), the exact prevalence of the disorder is unknown. 

ADCY5-related dyskinesia is caused by a variation (mutation) in the ADCY5 gene which may be inherited from a parent, or may occur spontaneously as a new variation without a previous family history, explains the National Organisation for Rare Diseases. T

he gene provides instructions for producing an enzyme (protein) called adenylate cyclase 5, which is involved in muscle contraction. Due to a mutation in the gene, the protein product may be faulty, absent, or overproduced.     

The abnormal movements that occur as a result of this typically appear as sudden twitches, jerks, tremors, muscle tensing (dystonia), or writhing movements that can affect the limbs, neck and face, explains the US National Library of Medicine

Weak muscle tone and a delay in motor skills development, such as crawling and walking, are some of the difficulties brought on by the disorder, which can begin in infancy.

It is generally a stable disorder that seldom progresses in frequency and severity, but anxiety, fatigue and stress can temporarily increase the severity of the symptoms. 

Caffeine’s effect on the disorder

Researchers at Hôpitaux de Paris, a university hospital in France, found that caffeine inhibits the enzyme and prescribed the boy caffeine so that his muscles would relax, and the receptors of the enzyme would activate.

In practice, it was found that one cup of espresso stopped his tremors for up to seven hours, and two cups kept his twitches at bay for almost a whole day.

His dosage was eventually increased to just under three cups a day, which almost entirely stopped the tremors. One cup of espresso contains around 100mg of caffeine.

When the boy’s parents accidentally once bought decaffeinated coffee, his dyskinesia episodes returned. Symptoms subsided when he again started drinking the caffeinated brew four days later.

In their report, the authors conclude that treating ADCY5-related dyskinesia with caffeine should be considered in all patients with the condition. 

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