5q-associated Spinal Muscular Atrophy (SMA) is a hereditary motor neuron disease leading to progressive weakness and atrophy of limb, bulbar, and respiratory muscles caused by a homozygous deletion or compound heterozygosity with deletion and point mutation in the survival motor neuron 1 (SMN1) gene [1]. The gene discussed is SMN1; the disease is proximal spinal muscular atrophy.