Bibliographic record
Abstract
Keywords Disease name and synonyms Definition/Diagnosis criteria Excluded diseases Prevalence Clinical description Management including treatment Etiology / Heredity Diagnostic methods Genetic counseling Antenatal diagnosis Unresolved questions References Abstract Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant form of late-onset slowly progressive myopathy characterized by eyelid ptosis, dysphagia and, sometimes by other cranial and limb-muscle involvement. Most early cases were reported in the French Canadian population but the disease was subsequently found to be ubiquitous. From a clinical perspective, this disorder presents in the fourth to the sixth decade with progressive often asymmetrical ptosis resulting in a compensating contraction of the frontalis muscle and therefore a suggestive posture with retroflexion of the neck. Dysphagia is also an early symptom and can lead to nasal regurgitation and severe episodes of aspiration if overlooked. Limb-girdle muscle weakness, especially in the pelvic girdle, is often noted but varies widely among individuals without any correlation with the severity of ptosis or dysphagia. Creatine kinase (CK) levels are slightly elevated and electromyogram (EMG) studies suggest a mild myopathic process. The best clue to the diagnosis, after the clinical distribution of muscle weakness, is the presence of intranuclear inclusions in the muscle fibers. Rimmed vacuoles are often seen but are less specific. Genetic studies are now available and can establish the molecular signature of the disease. A short GCG- triplet repeat expansion in the gene encoding the PABPN1 protein (on chromosome 14q) is pathognomonic of OPMD. However, the disease pathogenesis remains unclear. Supportive treatment is available and consists of eyelid surgery and myotomy of the cricopharyngeal muscle in carefully selected cases.
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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 | 0.002 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.000 |
| Bibliometrics | 0.004 | 0.004 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.000 | 0.001 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.028 | 0.010 |
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".