2015). Moreover, molecular diagnosis of SMA by detecting absence of SMN1 exons 7 & 8 has been extensively investigated among different ethnic groups; with high frequencies (87–100%) for homozygous absence of either exons 7 & 8 or exon 7 only of SMN1 gene have been reported. The gene discussed is SMN1; the disease is proximal spinal muscular atrophy.