Oculopharyngeal muscular dystrophy in Norway. Survey of a large Norwegian family
Bibliographic record
Abstract
OBJECTIVES: Oculopharyngeal muscular dystrophy was first described by Taylor in 1915. A substantial number of cases have been reported from North America, the disorder being most frequent in Quebec, Canada. MATERIAL: The onset of disease is in middle life, most often presenting with ptosis and a slight degree of ophthalmoplegia, followed some years later by dysphagia and often by proximal limb weakness. The course is slowly progressive, but the dysphagia may become severe and has caused death by starvation in several cases. The disorder is transmitted autosomally dominant in families. RESULTS: The present report describes a large Norwegian family with 13 affected members of whom we have examined eight. Transmission is autosomally dominant, mode of presentation may be either by ptosis or by dysphagia. In rare cases gait difficulties may be the presenting symptom. CONCLUSION: Electromyographic and muscle biopsy examinations demonstrate a primary myogenic disorder.
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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 | 0.000 | 0.001 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.000 |
| Bibliometrics | 0.000 | 0.001 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.001 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.000 | 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".