The spinal muscular atrophy (SMA) is a neuromuscular disease with an autosomal recessive inheritance pattern, characterized by the gradual degeneration of the motor neurons in the spinal cord. This disease causes varying degrees of muscle weakness and atrophy, significantly impacting the quality of life of patients. In Hungary, 10-15 new children with SMA are born each year, indicating the relatively rare occurrence of the disease, yet it can have severe effects on the lives of families. The underlying cause of SMA is a defect in the SMN1 (Survival Motor Neuron 1) gene, which plays a key role in the survival of motor neurons. When this gene does not function properly,…