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Rare genetic brain disease reported, ‘Myoclonus-Dystonia’



Bangalore: 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 all over 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.

He 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”, told the parents of the 21 year old.

Dr VL Ramprasad, COO, MedGenome Labs that performed the genetic testing 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 -or characteristically periods before or after sleep. We have now published this case in MDCP (Movement Disorders Clinical Practice), which is a well-known journal.”

The doctor informed that when the patient came to them he would get these movements in spells intermittently in the early years. His whole body was shaking when he was anxious or even concentrating on an activity. After initial tests the doctors were convinced that he had a rare genetic disorder and tests confirmed ADCY5 gene mutation


Namaste India! Alexa in desi avatar




NEW DELHI: Namaste, Alexa’s main hoon. Naam toh suna hi hoga. ” That’s Amazon’s Alexa for you, all ready to surprise the Indians in a desi avatar. Ask more, Kaisi ho aap (how are you?), and soon comes a blatant answer, Aapne pooch liya, bas dil garden-garden ho gayaa (you asked me for my well-being, and this moves me) to bloom like a garden).

Simply, said now you will be to interact with Amazon Alexa, task her with your daily alarms and chores or simply ask her to tell you jokes in the language that you use to chat with your friends and family.

Alexa can now understand commands such as “Bollywood ke latest gane sunao”, “cricket score batao”, “sher ki aawaaz sunao”, or “Alexa, apne baare mein batao”. “We are thrilled to bring a suite of AI advances in multi-lingual understanding so that customers can interact with Alexa in different regional variants of colloquial Hindi. We are grateful to Indian customers who contributed to Hindi development through the Cleo skill,” said Rohit Prasad, Vice President, and Head Scientist, Alexa AI, Amazon.

Rohit Prasad. Born in Ranchi, Prasad, 44, is vice president of Amazon’s world headquarters in the US is among the key personalities behind the birth of the successful and revolutionary voice assistant Alexa.

Prasad said that becoming local was the need of the hour as Indians quickly adopt digital technologies. “However, it was super challenging, especially due to the variations of words and pronunciations we have here. Hindi The dialect changes every 50-100 km.

Alexa arrived in India in 2017. Till date, she was able to understand and pronounce names of popular places, names, songs and more in languages such as Hindi, Tamil, Telugu, Marathi and Punjabi. With the new update, Alexa can now understand customers speaking to her completely in Hindi or Hinglish, in multiple contexts and varied regional accents and dialects.

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