Neonatal screening in spinal muscular atrophy: A challenge to change the Natural History
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Abstract
Introduction: spinal muscular atrophy (SMA) is the first cause of genetic origin of death in childhood. Throughout the last 20 years, we have witnessed exceptional advances in the knowledge of its genetic base, the history of its nature and several standards of care and new therapies have been developed. This rapid increase in knowledge has led to the development of effective therapies for this devastating disease. However, time is neurons, and that phrase reminds us of the importance of early diagnosis, and, why not, of pre-symptomatic diagnosis by means of neonatal screening.
Methods: review of scientific papers searching in Pubmed or Google for non-indexed articles or publications of Health organisms.
Results: several clinical studies have shown the greatest effectiveness of treatment in pre-symptomatic patients, so achieving the same in these patients would result in radically changing the history of this disease.
Discussion: it is important to analyze and promote the development of pilots for neonatal screening in order to gain experience, so from there on, to be able to think about the possibility of incorporating it into national programs.
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