Spinal Muscular Atrophy (SMA)
Patient Condition
Two months after birth, the child developed hypotonia, weakness in sucking, and reduced limb activity. Three months later, he was admitted due to respiratory distress and was diagnosed with spinal muscular atrophy type I (SMA-I). Genetic testing showed a homozygous deletion of the SMN1 gene (exon 7-8 deletion) and a SMN2 copy number of 2. Upon admission, he required non-invasive ventilator-assisted ventilation and was unable to lift his head on his own. The CHOP INTEND score was only 8 points.
Treatment Timeline
| Phase | Details | Date |
|---|---|---|
| Evaluation and program development | ||
| Zolgensma gene replacement therapy | ||
| Rehabilitation follow-up (remote + regular review) |
Treatment Outcome
| before | CHOP INTEND 8, unable to lift up and turn over, requiring 24 hours of non-invasive ventilator assistance, SMN1 homozygous missing, SMN2 copy number 2 |
|---|---|
| after | CHOP INTEND 48, can stand with assistance, good upper limb activity, get off the ventilator, can use walking aid for 18 months, can walk independently (requires assistive devices) for 24 months, return to normal family life |
| highlight | Motor function score increased by 500%, independent walking was achieved after being removed from the ventilator, and gene therapy rewritten the natural course of type SMA-I |