Fatal Familial Insomnia (FFI)
Patient Condition
PRNP gene D178N mutation carrier, grandmother diagnosed with FFI. Progressive insomnia for 8 months, accompanied by severe constipation, urinary retention, and dysarthria.
Treatment Timeline
| Phase | Details | Date |
|---|---|---|
| Symptom control and sleep induction | ||
| Immunomodulation and symptomatic treatment | ||
| Long-term maintenance and palliative care |
Treatment Outcome
| before | TST 55 minutes/24h, MoCA 18 points, severe constipation and urinary retention, obvious dysarthria |
|---|---|
| after | TST improved to 100 minutes/24 hours, constipation and urinary retention were effectively managed, dysarthria was partially improved, and cognitive decline slowed down |
| highlight | Comprehensive symptomatic treatment from the Australia Center for Neurodegenerative Diseases effectively manages autonomic dysfunction, and palliative care significantly improves patient comfort |