Among the 415 women screened for spinal muscular atrophy—SMN1 gene carrier, 13 patients (3.1%) with SMN1 gene carrier were detected, including 11 males and 2 carriers, i.e., two parents carried the SMN1 pathogenic mutation gene concurrently, and the detection rate was 0.5%. Here, SMN1 is linked to spinal muscular atrophy.