ArticleAnnals of Indian Academy of Neurology2026
Clinicodemographic and Genetic Profile of Children with Spinal Muscular Atrophy in Kerala, India: A Single-Center Experience.
Article in Annals of Indian Academy of Neurology, 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
BACKGROUND AND
objectivesSpinal muscular atrophy (SMA) is the most common neurodegenerative disorder in children, with an incidence of 1 in 6000-10000 live births. It is characterized by progressive lower motor neuron weakness. Studies on the natural history and long-term follow-up of an Indian cohort are sparse. We aim to study the clinical course, systemic complications, and treatment outcomes of children with genetically confirmed SMA during a 2-year follow-up.
methodsA prospective observational study was conducted at Aster MIMS Hospital Calicut, Kerala, including patients with genetically confirmed SMA aged 1 month to 18 years attending the neuromuscular clinic of the pediatric neurology department from 1 st April 2022 to 31 st March 2024. Data were collected using a standardized neuromuscular clinical proforma and were followed up biannually.
resultsOf the 80 enrolled patients, there were 33 boys and 47 girls. Our study included three types of SMA: 6 with SMA type 1, 55 with SMA type 2, and 19 with SMA type 3. A total of 22/80 had a positive family history of SMA. Among 46 patients on disease-modifying therapies, 24 showed improvement in functional scores. Bilevel positive airway pressure (BIPAP) ventilation was initiated in 21/25 patients with abnormal sleep studies. Scoliosis surgery was performed in 10/54 children with scoliosis.
conclusionsA multidisciplinary approach and early initiation of disease-modifying drugs significantly improved the quality of life in SMA patients and their functional scores. Early BIPAP initiation and timely management of scoliosis were crucial.
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