Patient Condition
Portatrice della mutazione del gene PRNP D178N, nonna con diagnosi di FFI. Insomnia progressiva per 8 mesi, accompagnata da grave costipazione, ritenzione urinaria e disartria.
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分钟/24h，MoCA 18分，严重便秘和尿潴留，构音障碍明显 |
|---|
| after | TST改善至100分钟/24h，便秘和尿潴留有效管理，构音障碍部分改善，认知下降速度减缓 |
|---|
| highlight | 澳大利亚神经退行性疾病中心的综合对症治疗有效管理了自主神经功能障碍，姑息照护显著提升了患者舒适度 |
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