The same test was also performed for an additional affected child, who had not adhered to the NBS, but had been admitted in December 2024 to the emergency room of Santobono Pediatric Hospital with symptoms suggestive of SMA; this child had a further different genotype in terms of SMN1, SMN2, and NAIP copy number (Table 1). Here, SMN1 is linked to proximal spinal muscular atrophy.