SMN1 and proximal spinal muscular atrophy: The current standard therapies for SMA include the anti-sense oligonucleotide (ASO) nusinersen (Spinraza, Biogen Netherlands B.V., Badhoevedorp, the Netherlands), which is administered by intrathecal injection and indicated for treatment of all patients with SMA [6], and the gene transfer therapy onasemnogene abeparvovec (Zolgensma, Novartis Gene Therapies EU Limited, Dublin, Ireland), which was approved by the European Medicines Agency (EMA) for patients with diagnosed SMA1 and/or with 1–3 copies of the SMN2 gene [7].