Sensory neuropathy in patients with Pompe disease: a case series in Iran
Bibliographic record
Abstract
Pompe disease is a glycogen storage disease primarily affecting striated muscles. Despite its main manifestation in muscles, patients with Pompe disease may exhibit non-muscle symptoms, such as hearing loss, suggesting potential involvement of sensory organs or the nervous system due to glycogen accumulation. This study aimed to evaluate the presence of concomitant small and large fiber neuropathy in patients with Pompe disease. In this case series study, nine patients with Pompe disease without complaints of neuropathy were evaluated. Small fiber neuropathy was assessed using the Small Fiber Neuropathy Screening List (SFNSL) and SUDOSCAN R , while the sympathetic system was evaluated through Sympathetic Skin Response (SSR), and large fiber neuropathy was assessed through electrodiagnostic findings. Small fiber neuropathy was detected in seven patients (77.8%) according to the SFNSL. Three patients (3/9, approximately 30%) exhibited positive electrophysiological tests, including SSR, SUDOSCAN R , and nerve conduction studies for neuropathy. They also had positive SFNSL results. This study indicates that neuropathy can be a comorbid condition in Pompe disease, emphasizing the importance of screening for this disabling condition.
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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 | 0.000 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.001 |
| 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) | 0.000 | 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".