ReviewJournal of neuromuscular diseases2026
Spinal muscular atrophy in India: Patient journey, access to care, treatment barriers, and strategic recommendations: Insights from experts.
Review in Journal of neuromuscular diseases, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
introductionSpinal muscular atrophy (SMA) is a neuromuscular disease that affects patients and caregivers worldwide, including in India, with a significant economic burden.
methodsA 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.
resultsThe 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 of SMA often revolves around the management of its complications, which requires respiratory, nutritional, and orthopedic care, both while awaiting and after receiving DMTs. Therefore, the gold standard for SMA care requires the availability of multidisciplinary care involving specialists from various fields. Despite the availability of DMTs, challenges such as affordability and timely access to these therapies remain major hurdles faced by SMA patients in India. Additionally, a lack of awareness among healthcare professionals, contributed to underdiagnosis and undiagnosed cases, further exacerbating the situation.
conclusionThis review provides insights from the expert opinions of Indian pediatricians, neurologists, geneticists, pediatric neurologists, and pediatric pulmonologists on the burden of SMA, diagnosis and management practices, importance of a multidisciplinary approach, challenges faced in SMA care in India, and strategies to overcome these challenges.
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