Neurológia pre prax 2/2026
Gene-based therapy for neuromuscular diseases
Hereditary neuromuscular disorders (NMD) are a broad group of diseases affecting peripheral nerves, muscles, or neuromuscular transmission. They are considered rare diseases with variable clinical presentation. A common feature of NMD is muscle weakness, which is progressive and can lead to respiratory failure in some patients. In the past, therapy for genetically conditioned NMD consisted only of symptomatic care without the possibility of influencing the natural course of the disease. A breakthrough occurred with the advent of gene therapy for spinal muscular atrophy (SMA). Progress has also been made in the treatment of muscular dystrophies. The effectiveness of gene therapy goes hand in hand with the availability of modern diagnostic methods such as next-generation sequencing or the use of newborn screening to detect asymptomatic patients.
Keywords: gene therapy, vector, spinal muscular atrophy, muscular dystrophy, toxicity, screening
