Spinal Muscular Atrophy (SMA) is a rare, autosomal recessive neuromuscular disease caused by deletions or mutations in the survival motor neuron (SMN1) gene leading to degeneration of alpha-motor neurons in the spinal cord with an estimated prevalence of 2.12/100,000 [3]. The gene discussed is SMN1; the disease is proximal spinal muscular atrophy.