Spinal Muscular Atrophy in Adult Neurology Services in India
Farsana Mustafa, William L. Macken, Lindsay A. Wilson, Nimita Rani, Ayush Agarwal, Ajay Garg, Neerja Gupta, Rohit Bhatia, Roopa Rajan, Anu Gupta, Mamta Bhushan Singh, Vasantha Sarvade, Robert D. S. Pitceathly, Mary M. Reilly, Michael G. Hanna, Ashwin Dalal, Kumarasamy Thangaraj, Venugopalan Y. VishnuABSTRACT
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.