Reacción a "Reaction: Neonatal screening for spinal muscular atrophy improves children's walking ability at two years of age"

The study compares two groups of patients with spinal muscular atrophy followed in the same centre by the same professionals. In one group the diagnosis was made early in the first weeks of life by neonatal screening, and in the other according to the onset of symptoms. Both groups received treatment, but the evolution of the cases detected early (and therefore treated earlier than in the other group) was much better.  

The work corroborates the advantages of early detection of spinal muscular atrophy by genetic testing before symptoms begin, so that treatment can be initiated. Although some very severe cases may also have very early symptoms, the possibility of very early treatment means that the evolution of these cases is also better than when the manifestations are clearly detectable.   

The detection of cases by genetic screening for spinal muscular atrophy reaches 95 % who show absence of the SMN1 gene responsible for the disease. In the other 5% the gene is present, but with more subtle alterations that cannot be detected with current screening methodology. This is why the inclusion of neonatal screening for spinal muscular atrophy would be an important step forward in the prevention of the disease.