Publication at Faculty of Medicine in Hradec Králové |
2022
Abstract
Spinal muscular atrophy (SMA) is a group of neurodegenerative diseases of motoneurons located in the anterior corners of the spinal and cranial nerves. The vast majority of them are caused by a mutation of the SMN1 (survival motor neuron) gene.
Clinically, depending on the type of disease, they are manifested by progressive muscle weakness of varying severity. This is a rare disease, with approximately 10 such sick children born in the Czech Republic each year.
Until recently, their prognosis (depending on the type of disease) was often serious, sometimes even fatal. However, the situation changed in 2016.
Currently, even 3 drugs operating on the principle of gene therapy are registered for the treatment of SMA