Experience of a 2-year spinal muscular atrophy NBS pilot study in Italy: towards specific guidelines and standard operating procedures for the molecular diagnosis

In the present article we report the results of the first Italian newborn screening project for Spinal Muscular Atrophy (SMA). The scenario of the disease has been revolutionized by three different effective treatments, acting at the molecular defect level, that, even if are not the cure, have radically changed the course of the disease, especially for patients treated ahead of symptoms. We report here the data on the frequency of SMA in our Regions. More importantly, we propose here the revision of the current molecular guidelines for the diagnosis of SMA: due to the outcome of the earlier treatments, that of SMA should be felt as a true medical urgency. Additionally, we propose the harmonization of molecular tests by comparative studies. (By Prof. Danilo Tiziano, https://jmg.bmj.com/content/early/2022/11/22/jmg-2022-108873 )

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