P.025 Variable expression in Dopa-responsive dystonia
Bibliographic record
Abstract
Background: Dopa-responsive dystonia (DRD) is a rare disorder with a classic presentation of childhood or adolescent-onset dystonia. This is characterized by parkinsonism, diurnal fluctuations, and a dramatic response to low doses of levodopa. It has been reported that female carriers of the genetic mutation are more often affected than males. Methods: A 62-year-old man with DRD. He is a sibling of the first documented case of DRD with autopsy. Results: He noticed mild clumsiness at 10 years old when he would fall playing games. He gave up playing hockey in his 30s because of his balance. Neurological exam at age 49 revealed mild findings of parkinsonism and dystonia of the right leg. He was started on levodopa/carbidopa 100/25 mg 1/2 pill BID with significant and sustained improvement and resumed playing hockey. His sister had onset at age 5 with walking on tiptoes with obvious dystonia when examined at age 8; she was well controlled for many years on straight levodopa (without decarboxylase inhibitor) at a dose of 250mg TID. Conclusions: These cases of siblings with DRD exemplify varying degrees of severity among family members and genders with the same condition. Genetic results are pending and will be presented.
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How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.001 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.000 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.001 | 0.000 |
| Insufficient payload (model declined to judge) | 0.010 | 0.002 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".