Equine-Assisted Physiotherapy Based on Neuroproprioceptive “Facilitation and Inhibition” Principles Combined with Gene Therapy in a 4-Year-Old Girl with Spinal Muscular Atrophy Type II: A Case Report on Functional, Respiratory, Neuromuscular, Quality

Objectives: To describe longitudinal changes in functional performance, movement quality, respiratory function, and exploratory biological changes during intensive rehabilitation based on neuroproprioceptive “facilitation and inhibition” principles in a child with spinal muscular atrophy (SMA). Methods: This case report describes a girl with SMA type II receiving disease-modifying therapy, including gene therapy, who completed three intensive rehabilitation programs based on neuroproprioceptive “facilitation and inhibition” principles, alternating equine-assisted and individualized outpatient physiotherapy. Clinical, biomechanical, respiratory, and functional outcomes were assessed before and after each therapeutic block. Exploratory molecular analyses were performed only during the second and third programs. International Classification of Functioning, Disability and Health (ICF)-based documentation and home video recordings were obtained before each rehabilitation program and 28 days after completion. Results: Following rehabilitation, improvements were observed in cervical muscle endurance, gross motor function, upper-limb movement quality, spontaneous motor activity, and functional independence. After two rehabilitation blocks, the child successfully performed expiratory maneuvers yielding numerical spirometric results, although the absence of baseline values precluded quantification of changes in respiratory function. The Expanded Hammersmith Functional Motor Scale score increased from 48 to 54 points. The primary outcome, the standard Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND) score, remained at its maximum of 64/64 throughout. This persistent ceiling effect precluded detection of further changes using the standard score. Three-dimensional motion analysis documented changes consistent with movement goals defined from the pre-intervention clinical assessment, particularly after Equine-Assisted Physiotherapy based on Neuroproprioceptive “Facilitation and Inhibition” (NEUROEQUIP-SMA). Exploratory analysis of peripheral blood long non-coding RNA (lncRNA) expression showed variable temporal changes across the rehabilitation periods, the biological significance of which cannot be determined from a single participant. Conclusions: This case illustrates continued motor development and changes in movement quality during intensive rehabilitation following gene therapy in a child with SMA type II. The contribution of physiotherapy cannot be separated from ongoing development and pharmacological treatment effects and warrants further investigation.