Hyderabad: Arun (name changed), 33-year-old from Karnataka, has been complaining of involuntary movements of his limbs and face since he was five. The movement used to happen 10 to 15 times a day, lasting for a few minutes. This restricted him from leading a healthy life for three decades.
When Arun approached the Narayana Hrudayalaya Hospital with his rare involuntary movement disorder, he was referred to the Centre for DNA Fingerprinting and Diagnostics to identify his genetic basis. Since Arun had alterations in more than 12 genes, genetic testing using high throughput sequencing technology called exome sequencing analysis (referring to a test) was done by a team of doctors led by Dr Ashwin Dalal, CDFD.
The use of exome sequencing helped to detect a mosaic mutation in ADCY5 (adenylate cyclase) gene. However, this condition is not well responsive to current medications available in the country. Disappointed about the doctors’ response, Arun had to go back to his village.
Surprising everyone a few months later, in June 2019, a group of scientists from France reported an unusual phenomenon. It so happened that in France, a father and daughter affected with similar involuntary movements and mutation in ADCY5 gene like Arun had a reduction of movements after consumption of coffee.
Taking inputs from this report, CDFD doctors called Arun back and put him on a simple coffee treatment. He was offered 100 ml caffeine three times a day. Within a few days of treatment, Arun saw a 90% reduction in his involuntary movements. Later, tablets containing caffeine was also imported as an alternative to coffee.
Dr Ashwin, head of the diagnostics division of CDFD, said, “A simple diet has brought a smile to a man’s face. Today Arun is in a state where he can think about a future. I hope that this treatment will help him improve his activities in daily life. Until now, he hasn’t expressed any side effects to this treatment. 100 ml of caffeine three times a day has not proven dangerous so far. Long term follow-ups will help us understand the treatment’s long-term use and benefits.”
Caffeine prevents the formation of excess cyclic AMP, which is responsible for the involuntary movements, by inhibiting its synthesis through blocking of adenosine receptors in the brain.
“Arun’s case is a testimony of how a simple and cheap food product, as a treatment, can lead to a happy and productive life. Today, we have various modalities of diagnosis of genetic diseases, such as next-generation sequencing and they are available at various parts of the country,” Dr Ashwin said.
Earlier this year, France had also tested the coffee treatment on an 11-year-old boy with involuntary movement. He was also found to have a mutation in ADCY5 gene. The boy was given high dose coffee in the form of espresso, as three doses per week. To the doctor’s surprise, within a few days of the ‘coffee treatment’, his involuntary movements decreased from 30 bouts per day to one or two brief movements. The movements, however, reappeared when he was given decaf coffee. Interestingly, it disappeared again when caffeine-containing coffee was given.