BENGALURU: MedGenome Labs, a city-based genetic testing lab, has detected a rare genetic brain disease called Myoclonus-Dystonia wherein the face, neck and hands of a person start shaking and experience jerks, due to a disorder called ADCY5-related dyskinesia. Six months ago, the lab received a blood sample of a 21-year-old from Mumbai who had been diagnosed with the disease. Genetic testing using a method called Exome sequencing found a mutation in a gene, which made him the first such case reported of an Indian adult suffering from this disorder, the lab said.
The patient suffered from involuntary and abnormal jerky movements of his hands and head since the age of 13, but these jerks were initially mild. This progressed to moderate severity over the last few years.“His whole body trembled when he was anxious or even concentrating on an activity such as riding his scooter. He was on medicines, which helped control the movements to an extent,” said Dr Pankaj Agarwal, Head of Movement Disorders Clinic at Global Hospitals, Mumbai.
Dr V L Ramprasad, Chief Operating Officer, MedGenome Labs, said, “ADCY5 mutation causes abnormal involuntary movements affecting the neck, arms and face. This mutation can also lead to episodic worsening triggered by anxiety, stress or inactivity before/after sleep. We submitted a paper. It was reviewed two-three weeks ago and published in MDCP (Movement Disorders Clinical Practice), an international clinical neurology journal. Interestingly, around the same time French Neurology researchers found that caffeine can help manage the disorder.”
An 11-year-old boy of African origin in France had the same disorder and was prescribed caffeine. Treatment started off with 1 cup of espresso that dramatically reduced shaking episodes for seven hours, the lab said in a statement.
“When the parents accidentally gave him decaffeinated coffee once, it resulted in return of shaking episodes. They realised the problem and resumed treatment with caffeinated coffee, instantly bringing relief to the patient. This chance observation can now help similar patients around the world to find a low-cost way to manage their symptoms,” it read.
Speaking to CE, Dr Agarwal said, “Since this recent discovery by the French researchers, we have recommended caffeine to our patient as well. We expect a dramatic reduction in symptoms and are waiting to hear back from the him. Any country only gets two to three such cases. In India, only one case of a child having this disorder was reported earlier.”