Patient Condition
mutazione del gene PRNP D178N (129M omozigoto), padre e zia entrambi sono morti di FFI. Insomnia progressiva per 5 mesi, accompagnata da allucinazioni, mioclonus e salivazione eccessiva.
Treatment Timeline
| Phase | Details | Date |
|---|
| Symptom control and sleep induction | | |
| Immunomodulation and symptomatic treatment | | |
| Long-term maintenance and palliative care | | |
Treatment Outcome
| before | TST 36分钟/24h，严重幻觉和肌阵挛，无法独立站立 |
|---|
| after | TST改善至80分钟/24h，幻觉频率减少70%，肌阵挛明显减轻，血压趋于稳定 |
|---|
| highlight | 日本顶尖朊蛋白病诊疗中心的多学科管理有效控制了运动和精神症状，姑息治疗团队提供了全面的终末期照护 |
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