MRI findings in congenital muscular dystrophies associated with brain abnormalities
Bibliographic record
Abstract
Magnetic resonance imaging (MRI) has become an important tool in diagnosing complex congenital muscular dystrophies (CMD) with brain abnormalities. Currently, there are two recognized types of CMDs with MRI brain abnormalities, firstly, laminin α2-chain-deficient CMD (MDC1A) with mutations in the LAMA2 gene, and secondly CMDs with hypoglycosylated α-dystroglycan which include Walker–Warburg syndrome (WWS), muscle–eye–brain disease (MEB), Fukuyama CMD (FCMD) and CMD types 1C and 1D (MDC1C and 1D). Brain MRI in MDC1A demonstrates abnormal white matter but rarely other brain abnormalities. In the latter group of CMDs, there is a whole spectrum of abnormalities involving both white and gray matter. The most severe MRI findings are in WWS. Patients with MEB, FCMD and MDC1C and lD also have gray and white matter abnormalities, which, in general, are less severe than those observed in WWS. There may be an overlap in these complex CMDs, both genotypically and in MRI findings.
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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 | 0.000 | 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 | 0.000 |
| 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".