CHENNAI: Spinal Muscular Atrophy (SMA), a rare genetic disorder that affects the motor neurons in the spinal cord, has emerged as a pressing concern in India, demanding immediate attention from healthcare authorities and policymakers. SMA poses severe challenges to patients, caregivers, and the healthcare system, and its economic burden cannot be ignored. Children born with severe SMA Type 1 —the most common form of the condition — have a life expectancy of just two years. It leads to progressive muscle weakness and the loss of motor function, making even the simplest of movements an uphill task. SMA can affect a child’s ability to crawl, walk, sit up, and control head movements.
Severe SMA can also damage the muscles used for breathing and swallowing.
Dr Sujatha Jagadeesh, HOD of Dept of Clinical Genetics, Mediscan Chennai, stated, “SMA Type 1 is a heart-wrenching condition that affects the most vulnerable in our society — our children. It occurs in approximately one in 3,000-4,000 live births. The economic burden it places on families is substantial, given the need for multidisciplinary care and disease-modifying therapies.” She added, “The Centre of Excellence (COE) in Chennai provides the required treatment for rare diseases, offers supportive care, regularly monitors patients’ conditions, and also provides rehabilitation services.”
Discussions surrounding a rare disease policy have been ongoing since 2013. While there is now a National Policy for Rare Diseases (NPRD) in place, the actual implementation has been slow and inadequate.
Professor Sheffali Gulati, Faculty in charge Child Neurology Division Department of Paediatrics, All India Institute of Medical Sciences (AIIMS) New Delhi said, “In India, remarkable progress has been achieved in the identification and establishment of Centres of Excellence (CoEs) dedicated to offering counselling, prenatal testing and diagnosis, management, and comprehensive multidisciplinary care.”