Spinal muscular atrophy in India: Patient journey, access to care, treatment barriers, and strategic recommendations: Insights from experts

INTRODUCTION: Spinal muscular atrophy (SMA) is a neuromuscular disease that affects patients and caregivers worldwide, including in India, with a significant economic burden. METHODS: A comprehensive literature review was conducted to evaluate SMA, patient journeys, healthcare access, and treatment barriers in India, forming the basis for an expert panel discussion. RESULTS: The experts highlighted that early detection of SMA through newborn, carrier, or prenatal screening, and diagnosis through genetic testing enable timely interventions including disease-modifying therapies (DMTs) and multidisciplinary care. Currently, in India, Risdiplam is the only Drugs Controller General of India (DCGI) approved DMT for SMA. It is administered orally and approved for use in SMA type 1, 2, 3, and 4 among pediatric and adult patients. The management…