Huntington's Disease (HD)
Patient Condition
In early stages of Huntington's disease, the CAG repetition number is 42, which is manifested as mild chore-like involuntary movements, mainly involving the limbs, and obvious mood fluctuations. The MoCA score is 24. UHDRS TMS 18 points, TFC 12 points. Genetic testing confirmed an extended mutation of CAG trinucleotide in the HTT gene and a positive family history (mother was diagnosed with HD).
Treatment Timeline
| Phase | Details | Date |
|---|---|---|
| Initial assessment and genetic diagnosis | ||
| Tominersen Intrathecal Injection Cycle 1 | ||
| Tominersen Session 2 + Rehabilitation Training | ||
| Maintenance treatment and follow-up evaluation |
Treatment Outcome
| before | UHDRS TMS 18 points, TFC 12 points, MoCA 24 points, moderate dance-like involuntary movements, frequent mood swings, basic self-care in daily life but limited fine movements |
|---|---|
| after | UHDRS TMS dropped to 10 points (improved by 8 points), TFC maintained at 12 points, MoCA increased to 26 points, chore-like movements were significantly reduced, emotional stability was improved, and fine movements were restored |
| highlight | Tominersen antisense oligonucleotide treatment significantly reduced choreo-like motor scores, with outstanding early intervention and simultaneous improvement in cognitive function |