Patient Condition
The patient developed right upper limb weakness and muscle fascicle fibrillation at the age of 53, and was diagnosed with ALS at the age of 54. Genetic testing revealed a SOD1H46R mutation (Japanese characteristic mutation). At the time of diagnosis, ALSFRS-R was 32, FVC was 72%, and right upper limb muscle strength was grade 3. Progress is rapid (monthly decrease of 1.2 points).
Treatment Timeline
| Phase | Details | Date |
|---|
| Diagnosis and classification of limb onset ALS | | |
| Edaravone IV infusion + riluzole | | |
| Autologous stem cell therapy + intensive rehabilitation | | |
| Maintenance treatment and functional protection | | |
Treatment Outcome
| before | ALSFRS-R 32 points, monthly decline 1.2 points, FVC 72%, SOD1H46R mutation |
|---|
| after | ALSFRS-R 27 points, 2-year decrease of 5 points (79% delay), FVC 64% |
|---|
| highlight | Tofersen targeting the Japanese characteristic SOD1 H46R mutation delays progress by 79% |
|---|