Bengaluru: 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 hand shaking and jerking due to 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 in the body and is usually seen in children, but this is the first time it has been reported in an Indian adult patient.
Says 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 well-known journal.”
The patient suffered from the condition since he was 13, but these jerks were initially mild. This progressed to moderate severity over the last few years. “We were able to manage the trembling till the time they were mild. With time, the intensity increased and so did the frequency which hampered daily activities and even any work that needed concentration”, say the patients’ parents.
“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. After initial tests we were convinced he had a rare genetic disorder and tests 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, of Global Hospitals Mumbai, who is treating the paitent.
