New Horizons in Physiotherapy for Spinal Muscular Atrophy (SMA) Type 1 in the Era of Disease-modifying Treatments: A Case Report

Spinal Muscular Atrophy (SMA) type 1 is a severe autosomal recessive neuromuscular disorder caused by SMN1 gene mutations, leading to progressive muscle weakness and respiratory compromise. Without intervention, affected infants can rarely sit independently or live beyond two years of age. The advent of disease-modifying therapies and the timely implementation of physiotherapy have changed the disease trajectory and helped in increased survival. This report describes a two-year and fivemonth-old female child with genetically confirmed SMA type 1 on disease modifying treatment and regular physiotherapy who achieved independent sitting - an uncommon milestone for this phenotype. During hospitalisation for bronchopneumonia at a tertiary care hospital, physiotherapy was continued with chest physiotherapy and truncal activation exercises, progressing to functional strengthening and postural control activities. Functional gains were documented using the Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND) and the Revised Hammersmith Scale for Spinal Muscular Atrophy (RHS-SMA). This case underscores the vital role of structured physiotherapy in translating pharmacological advances into meaningful functional recovery in children with SMA type 1.