“ The tragedy for us is that we intervene too late.", regrets Professor Vincent Laugel, pediatric neurologist at the Strasbourg University Hospital. Every day in France, around 2,000 children are born. Among them, each month, around ten babies are born with spinal muscular atrophy type 1, the most severe and common form of a muscular disease that kills children in their first two years of life.
To save them, treatments exist but can only stop the progression of the disease. They are therefore only fully effective if they are administered before the first symptoms appear, in the first weeks of life. We are facing a total therapeutic emergency with spinal muscular atrophy. This is the symbol of the importance of neonatal screening.“, supports Professor Catherine Sarret, pediatric neurologist at Clermont-Ferrand University Hospital.