Charcot Ankle Arthropathy in CMT1A Exacerbated by Type 2 Diabetes Mellitus
Bibliographic record
Abstract
Charcot-Marie-Tooth (CMT) disease is a hereditary motor and sensory neuropathy characterized by similar phenotype despite genetic heterogeneity 1 .Charcot-Marie-Tooth type 1A, linked to a ~1.4 Mb duplication containing the peripheral myelin protein-22 gene on chromosome 17p11.2,accounts for ~50% of all CMT patients 2-6 .Disease severity varies considerably in CMT1A, however, the prototypical phenotype involves weakness and atrophy of distal limb muscles, distal sensory deficits and diminished deep tendon reflexes with symptoms appearing in childhood 7 .Interestingly, increased motor and sensory impairment is observed in CMT1A patients with diabetes 8 .Pes cavus, a skeletal deformity resulting from characteristic sparing of foot plantar flexors in combination with early weakness of dorsiflexors, is observed in approximately twothirds of CMT1A patients 7 .In contrast, mutilating foot deformities resulting from prominent distal sensory deficits are not typical of CMT1A, but have been associated with the 2B subtype of CMT disease and can be a feature of the Hereditary Sensory Neuropathies 9 .We present a patient who developed Charcot ankle, a destructive arthritis associated with peripheral sensory neuropathy, as a result of CMT1A augmented by type II diabetes mellitus.
Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.
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 | 0.003 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.000 |
| Bibliometrics | 0.002 | 0.002 |
| Science and technology studies | 0.001 | 0.000 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.007 | 0.001 |
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".