Jaipur: JK Lon Hospital physicians started the treatment of a child suffering from a rare disease ‘Spinal Muscular Atrophy’. Probably, the second child in India with this disease, who’s prescribed Risdiplam (Everesady) medicine.
The treatment has been started through this drug costing Rs 4 crores/ year and it’s to be given lifelong. As per Associate Professor Dr. Priyanshu Mathur, the patient’s mother first came to know about this disease when the child was of 8 months. At that time, the movement of the child’s legs was less and there was laxity. When the child couldn’t stand or walk, she consulted the doctor through genetic testing disease was detected.
What is Sma Disease?
A genetic disease, Spinal Muscular Atrophy affects the nervous system and voluntary muscle function. It may occur to one in 11,000 children. Among infants, SMA is a major genetic cause of death.
In some people, the initial symptoms start before birth, while in others, symptoms aren’t clear until they adulthood. In the beginning, the patient may experience problems with the muscles of the hands, feet, and respiratory system. This causes swallowing problems, scoliosis, etc.