We performed the MLPA analysis in 51 out of 57 SMA patients to detect the copy number of the SMN2 gene, which plays an important role in the disease’s severity (Mailman et al., 2002; Wirth et al., 2006; Verhaart et al., 2017a; Calucho et al., 2018; Wirth et al., 2006). The gene discussed is SMN2; the disease is proximal spinal muscular atrophy.