MIUMBAI: A rare genetic brain disease causing movement disorder has been reported from Mumbai where a 21-year-old patient has been diagnosed with ‘Myoclonus-Dystonia.’
The rare disease has less than 400 cases reported in the world. The disorder is known to cause abnormal involuntary tremors/movements in the body and is usually seen in kids. However, this is the first time it has been reported in India.
“After examining the patient, we were convinced he had a rare genetic disorder and advised genetic testing for certain genes, that later confirmed ADCY5 gene mutation,” said Dr Pankaj Agarwal, Head of the Movement Disorders Clinic, Global Hospitals, Mumbai.
Dr Agarwal stated, “There was no family history of a similar illness indicating that some ailments may arise on their own.”
Dr VL Ramprasad, COO, MedGenome Labs, said, “ADCY5 mutation causes abnormal involuntary movements affecting the neck, arms and face. We have now published this case in Movement Disorders Clinical Practice.”
Genetic testing is a critical part of the laboratories for the timely diagnosis of rare diseases. It allows specific interventions that can improve the quality of life and has a tremendous impact on containing the cost of healthcare.