Spinal Muscular Atrophy Type I (SMA-I)
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 exon 7 of the SMN1 gene and a copy number of SMN2 was 2. The child was unable to sit alone when he came for diagnosis. The CHOP INTEND score was 15, and he required non-invasive ventilator-assisted ventilation at night. He had previously received physical therapy with limited effectiveness. Family history: Mother is the carrier.
Treatment Timeline
| Phase | Details | Date |
|---|---|---|
| Evaluation and gene therapy plan development | ||
| Zolgensma gene replacement therapy | ||
| Early rehabilitation and follow-up | ||
| Long-term functional development follow-up |
Treatment Outcome
| before | CHOP INTEND 15, unable to sit alone, noninvasive ventilator assistance required, homozygous deletion of SMN1, SMN2 copy number 2, severely impaired motor function |
|---|---|
| after | CHOP INTEND 48 points, can walk independently (requires assistive devices), get off the ventilator, achieve milestone progress in motor function, and return to normal family life |
| highlight | Zolgensma gene therapy improves motor function scores in children with type I by 220%, realizes independent walking, and completely rewrites the natural course of the disease. |