Spinal Muscular Atrophy (SMA)
Patient Condition
Three months after birth, the child developed hypotonia, weak crying, and reduced limb activity. Type SMA-I was diagnosed 5 months later, with a homozygous deletion of exon7 in the SMN1 gene, and a copy number of SMN2 was 3. He relied on nasal feeding at the time of his visit and was unable to turn over. His HINE-2 score was 8/26, and he needed intermittent oxygen inhalation.
Treatment Timeline
| Phase | Details | Date |
|---|---|---|
| Assessment and Risdiplam treatment initiation | ||
| Risdiplam combined with Nusinersen | ||
| Rehabilitation training and follow-up |
Treatment Outcome
| before | HINE-2 8 points, relying on nasal feeding, unable to turn over and raise his head, intermittent oxygen inhalation |
|---|---|
| after | HINE-2 26 points (full score), sit and stand independently, swallow normally, get out of nasal feeding |
| highlight | The HINE-2 score reached full marks, eating independently from nasal feeding, achieving a milestone recovery |