Reviving mobility: the impact of activity-based rehabilitation on motor function in a child with SMA type II after gene therapy – a case report
DOI:
https://doi.org/10.54646/IFNR.2025.13Keywords:
activity-based physiotherapy, motor function, postural control, quality of life, SMA type II, neuromuscular stimulation, aquatic therapyAbstract
Background: Spinal Muscular Atrophy (SMA) Type II is a genetic neuromuscular disorder causing progressive muscle weakness. Gene therapy with Onasemnogene Abeparvovec (Zolgensma) has improved outcomes when combined with early rehabilitation.
Objective: To assess the impact of activity-based physiotherapy on motor function, postural control, and quality of life in a child with SMA Type II post-gene therapy.
Methods: A 1-year-11-month-old female received gene therapy at 18 months, followed by a 12-month multidisciplinary physiotherapy program including postural alignment, functional sitting training, neuromuscular stimulation, standing frame, respiratory exercises, and aquatic therapy. Outcome measures included Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND), Hammersmith Functional Motor Scale Expanded (HFMSE), PedsQL, and manual muscle testing.
Results: CHOP INTEND improved from 54 to 64, HFMSE from 29 to 35, and PedsQL from 40 to 34. Notable improvements were observed in trunk control, dynamic sitting, and functional transitions.
Conclusion: Early, structured rehabilitation post-gene therapy can enhance motor outcomes and quality of life in children with SMA Type II.
