Patient Condition
The patient developed left upper limb weakness and muscle atrophy since the age of 42, and was diagnosed with ALS at the age of 43. Genetic testing revealed a mutation in SOD1L126Z. At the time of diagnosis, ALSFRS-R was 31, FVC was 70%, and left upper limb muscle strength was grade 3. Progress is rapid (monthly decrease of 1.3 points).
Treatment Timeline
| Phase | Details | Date |
|---|
| Diagnosis and precise typing of ALS | | |
| Intrathecal injection of Tofersen (SOD1 ASO) | | |
| Autologous stem cell adjuvant therapy | | |
| Maintenance treatment and multidisciplinary management | | |
Treatment Outcome
| before | ALSFRS-R 31, monthly decline 1.3, FVC 70%, SOD1L126Z mutation |
|---|
| after | ALSFRS-R 26 points, 2-year decrease of 5 points (delay of 84%), FVC 62% |
|---|
| highlight | Tofersen targeting the SOD1L126Z mutation delayed progression by 84%, benefiting significantly in patients with rapid progression |
|---|