Spinal Muscular Atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by deletions or mutations of the SMN1 gene with retention of its paralog SMN2. Despite recent advances in disease-modifying treatments, SMA remains the leading genetic cause of infant mortality and continues to require multidisciplinary supportive care to achieve optimal outcomes. Physiotherapy is an integral part of this care, helping to maintain mobility, prevent contractures, and enhance quality of life.
Historically, physical activity was discouraged in SMA because of concerns that exercise might accelerate motor-neuron degeneration. Subsequent evidence has shown that inactivity contributes to weakness and fatigue, whereas appropriately dosed physical therapy improves postural control, endurance, and respiratory function. Modern rehabilitation therefore emphasizes functional mobility, balance training, and gait rehabilitation. Experimental studies have also demonstrated that specific exercise parameters can activate neuroprotective mechanisms independent of SMN protein expression, suggesting that motor-unit activation itself may support neuronal health.
Building on these findings, the present study introduces Equine-Assisted Physiotherapy Based on Neuro-proprioceptive "Facilitation and Inhibition" (NEUROEQUIP-SMA)-an innovative physiotherapeutic approach designed for children with SMA. This method combines the dynamic multisensory input of equine movement with the principles of neuroproprioceptive facilitation and inhibition, in which appropriate afferent stimuli modulate interneuronal excitability to optimize transmission within motor pathways. The technique aims to lower the excitability threshold of motor neurons so that impulses from the central nervous system can effectively induce muscular activation. Similar neurofacilitation strategies are routinely used in Czech neurorehabilitation for patients after stroke or with multiple sclerosis, but their potential in SMA has not yet been systematically studied.
The NEUROEQUIP-SMA method is compared with a standard physiotherapy program based on neuroproprioceptive facilitation and inhibition principles delivered in an outpatient setting. Both approaches target postural alignment, trunk stability, and functional motor control. The equine-assisted modality is expected to further enhance outcomes by promoting rhythmic pelvic activation, symmetric weight shifting, coordinated engagement of weakened muscle chains, and improved respiratory patterning through the horse's cyclic movement.
The study uses a randomized crossover design to evaluate short-term effects after an intensive six-day program. Primary outcomes include changes in motor function, postural control, and respiratory parameters, complemented by surface electromyography to monitor muscle fatigue. Secondary measures address quality of life, psychomotor development, and parent-reported well-being.
As an exploratory molecular component, peripheral blood will be analyzed for selected long non-coding RNAs (lncRNAs) such as SMN-AS1, MALAT1, PARTICLE, MEG3, NEAT1, H19, and GAS5. These transcripts are involved in motor-neuron development and chromatin regulation through PRC2-associated mechanisms. Their expression changes may serve as potential biomarkers reflecting neurophysiological effects of intensive physiotherapy in SMA.
The study was reviewed and approved by the Ethics Committee of the Third Faculty of Medicine, Charles University, Prague, Czech Republic. The intervention is short-lasting, low-risk, and non-pharmacological; therefore, a formal Data Monitoring Committee was not required. The findings are expected to contribute to evidence-based recommendations for physiotherapeutic management of SMA and to provide insight into the molecular correlates of motor-function improvement.
