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Dr Avtar Singh and Dr Manik Mahajan of Amandeep Hospital with the patient at Press conference on rare genetic disease “Segawa” in Amritsar on January 17, 2015
Dr Avtar Singh and Dr Manik Mahajan of Amandeep Hospital with the patient at Press conference on rare genetic disease “Segawa” in Amritsar on January 17, 2015

Amritsar, January 17, 2015 (Online News India): Rupinder (name changed) is an 8 year old girl from Pathankot. At the age of 6½ years she was unable to walk properly. Thereafter she could not get up from the bed or chair. She stopped going to toilet without assistance. She had to be lifted to school and thereon she deteriorated. In merely 2 years she was bedridden.

She displaced symptoms mimicking muscular dystrophy, a muscular disease. However Dr Manik Mahajan, neurologist with Amandeep Hospital diagnosed her with rare condition where in Dopamine levels drop in a patient called the “Segawa’s disease”.The disease a highly debilitating one. In merely 2 days after a simple treatment, Rupinder was running and jumping. Rupinder also went back to school. Dr Manik said, “The cost of Rupinder’s daily dose is just Rupee1 which needs to continue throughout life.”

Talking about the condition he said, “Segawa’s disease” is one of the rarest and only few families in India and just a few in the world are affected by it according to medical journals. The blood tests had to send to a foreign country for confirmation.”

Dr Avtar Singh Director of the Hospital stated, “Since the disease is genetic, on further probe by a medical team of Amandeep Hospital, it was traced that Rupinder had two cousins, who too were similarly suffering.”

Describing their condition Dr Manik said, “Both the cousins were from the paternal side of Rupinder and lived in Kathunagal about 20 Kms from Amritsar and were in a pitiable condition.

Balwinder Singh who was 38 years old was bedridden. He walked for the first time after Amandeep Hospital offered him free treatment under its Programme of ‘Gift of Giving’. Last month in December Balwinder Singh was able to walk on his own, comfortably open his hands, for the first time in nearly 20 years since being struck by the disease.

His 28 year old sister too is bedridden and is in a worse condition. She had taken somewhat a foetal position and weighed just 25 Kg. She could not speak or move properly. Under free of cost treatment by the local Hospital, now she can talk and sit and is still undergoing treatment.”

“All three including Rupinder, Balwinder Singh and his sister will have to take medication throughout their lives,” Dr Manik added.

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