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Rare genetic brain disorder ‘Myoclonus-Dystonia’ detected in India

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The disorder is known to cause abnormal involuntary tremors/movements in the body and is usually seen in children

A rare genetic brain disease causing a movement disorder has been reported from Mumbai where a 21-year-old patient has been diagnosed with ‘Myoclonus-Dystonia’ with facial, neck and handshaking and jerking due to a rare genetic disorder called ADCY5-related dyskinesia. This is a rare disease with 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 children, but this is the first time it has been reported in an Indian adult patient.

“When the patient came to us, he would get movements in ‘spells’ intermittently in the early years. His whole body trembled when he was anxious or even concentrating on an activity such as riding his scooter. After examining him in the clinic and doing the initial tests, we were convinced he had a rare genetic disorder and advised genetic testing for certain genes, that later confirmed ADCY5 gene mutation. There was no family history of a similar illness indicating that some diseases may arise de-novo (on their own),” said Dr Pankaj Agarwal, Head of the Movement Disorders Clinic, Global Hospitals Mumbai, who made the diagnosis and is treating the patient.

As per Dr VL Ramprasad, COO, MedGenome Labs that performed the genetic testing, “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 -or characteristically periods before/after sleep. We have now published this case in MDCP (Movement Disorders Clinical Practice) a leading and well-known international clinical neurology journal.” This is the first reported adult-onset case of ADCY5 in India.

Further, recently in a serendipitous finding, French neurology researchers observed that caffeine helps manage ADCY5-related Dyskinesia.

Genetic testing is a critical part of the healthcare system for the timely diagnosis of rare diseases and further allows specific interventions that can improve the quality of life and has a tremendous impact on the cost of healthcare.

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