Annals of Indian Academy of Neurology · 2026
Clinicodemographic and Genetic Profile of Children with Spinal Muscular Atrophy in Kerala, India: A Single-Center Experience.
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Hafsa, Mohanlal Smilu, Mubeena P M, Balaji Aarthi, Pramod S, Kumar Suresh, Pachat Divya
Аннотация
BACKGROUND AND OBJECTIVES: Spinal 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.
METHODS: A 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.
RESULTS: Of 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.
CONCLUSIONS: A 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.
METHODS: A 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.
RESULTS: Of 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.
CONCLUSIONS: A 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.