Multiplex ligation-dependent probe amplification of the SMN showed homo deletions of SMN1 exons 7 and 8 and two copies of the SMN2; thus, she was diagnosed with SMA type I. She had received nusinersen four times since she was 2 months old, and OA was administered at 6 months of age. Here, SMN2 is linked to spinal muscular atrophy, type 1.