Spinal Muscular Atrophy in Adult Neurology Services in India

Spinal muscular atrophy (SMA) research has focused predominantly on paediatric populations, with limited adult data from low- and middle-income countries (LMICs). We prospectively recruited suspected SMA patients (age ≥ 12 years) into a neuromuscular disease cohort at a tertiary centre in northern India, using phenotyping, creatine kinase, electrophysiology and genetic testing. Forty genetically confirmed patients were included (median age 20.5 years; mean symptom duration 14.7 ± 10.9 years). Proximal lower-limb weakness was the commonest presentation (82.5%). Forty-five percent were misdiagnosed as muscular dystrophy or congenital myopathy. Three SMA patients received risdiplam. Our cohort highlights the diagnostic challenges of adult SMA and supports a genetics-first approach. Early genetic confirmation shortens diagnostic delay, reduces misclassification and helps eligible patients benefit as disease-modifying therapies become more affordable in resource-limited settings.