Two main hypothesis have been postulated to explain the pathogenesis of SMA: (a) SMN is involved in the biogenesis of small nuclear ribonucleoproteins (snRNPs) and in mRNA splicing: thus SMN reduction may determine a general perturbation in snRNP assembly (to which motor neurons may be more sensitive), and/or SMN complex is involved in the splicing of one or few transcripts with a key function in motor neurons; or (b) SMN has a motor neuron specific function, independent from snRNPs assembly, such as mRNA transport along the axon. Here, SMN2 is linked to proximal spinal muscular atrophy.