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Newborn in Jaipur diagnosed with two rare genetic diseases

According to the team of doctors treating the newborn, this is possibly a first-of-its-kind case in the world where one person has been diagnosed with two rare disorders.

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This picture has been used for representational purpose

This picture has been used for representational purpose

In what doctors said is probably a first-of-its-kind case in the world, a newborn has been diagnosed with two rare genetic diseases at a government hospital in Jaipur. The baby has been diagnosed with Pompe disease and Spinal Muscular Atrophy (SMA), a doctor at J K Lone Hospital said on Wednesday. While Pompe disease is a rare inborn error of metabolism, SMA is a disorder affecting the nervous system.

According to the team of doctors treating the newborn, this is possibly a first-of-its-kind case in the world where one person has been diagnosed with two rare disorders. No such case can be found in the available medical literature. The baby boy, who is 44 days old as on Wednesday, was referred from a hospital in Agra few days back with complaints of gradually progressive fast breathing and decreased movement of lower limbs, said Dr Priyanshu Mathur, who is part of the three-member team treating the newborn.

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