Spinal Muscular Atrophy Type II (SMA-II)
Patient Condition
The child was diagnosed with SMA-II type at 6 months old, with a homozygous deletion of exon 7 of the SMN1 gene and a copy number of SMN2 was 3. The child was 2 years old when he came for treatment. He could sit alone but could not walk independently and needed assistive devices. The CHOP INTEND score is 42 and the HFMSE score is 28. Respiratory function: FVC 65% predicted, occasional decrease in nocturnal oxygen saturation (minimum 88%). Cobb angle of scoliosis is 15 degrees. Previously undergoing physical therapy and spinal brace therapy, motor function progressed slowly.
Treatment Timeline
| Phase | Details | Date |
|---|---|---|
| Comprehensive evaluation and treatment plan formulation | ||
| Spinraza loading dose therapy | ||
| Maintenance treatment and rehabilitation intensification | ||
| Long-term maintenance and functional optimization |
Treatment Outcome
| before | HFMSE 28, sitting alone but not walking, FVC 65%, scoliosis 15 degrees, slow progress in motor function |
|---|---|
| after | HFMSE 45 points, walking assistance for 50 meters, FVC maintained at 70%, no progression of scoliosis, and significant improvement in self-care ability |
| highlight | Spinraza treatment increased motor function scores in children with SMA-II by 61%, achieved assisted walking, and significantly improved quality of life |