A case of myoclonus-dystonia diagnosed as Tourette Syndrome
Bibliographic record
Abstract
Myoclonus dystonia (M-D) is a rare movement disorder characterized by a combination of myoclonic jerks and mild dystonia typically beginning before age 20. M-D is caused by mutations in the SGCE gene in 36% of cases. We report a patient with genetically confirmed M-D who was initially diagnosed with Tourette syndrome (TS) for 15 years. Myoclonic jerks are distinguished from tics seen in Tourette syndrome in that they are not suppressed by conscious effort, are not preceded by an urge to carry out the movement, can interfere with voluntary movement, and are suppressed by alcohol intake. Conversely, tics seen in Tourette syndrome can be suppressed with conscious effort, are preceded by an urge to tic, often have a verbal component, do not normally interfere with voluntary movement, and are not reduced by alcohol. Although M-D is rare, it must be considered in patients with early onset myoclonus and dystonia, especially in cases with a positive family history.
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How this classification was reachedexpand
Full frame distilled prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.
Codex and Gemma teacher scores by category
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.001 | 0.002 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.000 |
| Bibliometrics | 0.000 | 0.000 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.001 |
| Insufficient payload (model declined to judge) | 0.003 | 0.000 |
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 teacher head, 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".