Doctors from the US and Switzerland have made a revolutionary breakthrough in medicine, having successfully cured a child of spinal muscular atrophy (SMA) type 1 during pregnancy for the first time. The results of this exceptional case were presented in the prestigious medical publication New England Journal of Medicine, writes gazeta.ru.

SMA is caused by genetic defects in the SMN1 gene, which is critical for producing a protein that ensures the functioning of motor neurons. Without this protein, muscles weaken and atrophy, which is especially dangerous in type 1 SMA – most children with this diagnosis do not survive past the age of two without treatment.

The success story began with a family that lost their first child due to SMA-1. During a second pregnancy, having learned about the risk of the fetus developing the same disease, the expectant mother was prescribed the drug risdiplam at 32 weeks, which promotes the production of the necessary protein.

The therapy was successful: the newborn was born without signs of muscle weakness and developmental delays. The drug was continued after birth, and two years later the child is demonstrating normal development.

Although the case is isolated, this achievement opens up new perspectives in the treatment of genetic diseases at the prenatal stage. Doctors intend to conduct extensive studies to confirm the effectiveness of this approach to treatment.