Effect of an evidence-based modified developmental physiotherapy intervention on muscle tone, motor functions, and trunk control in a child with hereditary spastic paraplegia type 47: A case report

Abstract

BackgroundMost current studies on Hereditary Spastic Paraplegia (HSP) focus on adolescents and adults. There is a lack of research on the effectiveness of structured, evidence-based developmental physiotherapy during early childhood. While early intervention strategies for children with motor development delays offer a useful framework, no specific guidelines have been developed for early physiotherapy in HSP. This report aimed to describe the effects of a home-based, evidence-based developmental physiotherapy approach in a child diagnosed with HSP Type 47 (SPG47).Case DescriptionA two-year-old child with SPG47 participated with parental consent. Before intervention, the child was unable to stand up using support or take more than a few side steps. Muscle tone, motor function, functional level, and trunk control were assessed using MAS, GMFCS, GMFM-66, and SATCo, respectively.InterventionsA developmental physiotherapy program based on current evidence was implemented at home for 2 hours daily over 8 weeks, with daily home implementation by the family. The intervention was grounded in family-centered care principles and evidence-based early developmental physiotherapy, tailored to the child's clinical presentation.OutcomesAfter the program, GMFM-66 increased by 7.2%. The child gained the ability to stand independently and take more than five side steps. MAS scores improved, SATCo increased from level 6 to 7, and GMFCS improved from level III to II.ConclusionIn this child with SPG47, an early structured developmental physiotherapy approach was associated with improved motor function and reduced spasticity, supported by motor learning, environmental adaptations, and family involvement. Integrating early intervention principles with HSP-specific considerations enabled targeted task progression and practical home implementation. These findings apply only to this child, and further research is needed to determine whether similar strategies may benefit children with AP4B1-related HSP.