Infantile-onset <i>LMNA</i>-associated Muscular Dystrophy Mimicking Juvenile Idiopathic Inflammatory Myopathy
Bibliographic record
Abstract
To the Editor: Juvenile idiopathic inflammatory myopathy (JIIM) refers to a group of rare chronic autoimmune conditions. Juvenile dermatomyositis (JDM) is the most common JIIM. The hallmarks of JDM are characteristic cutaneous features and proximal muscle weakness; however, adermatitic forms have been described. Polymyositis presents with both proximal and distal muscle weakness, muscle atrophy, and similar degrees of dysphagia, arthritis, and contractures1. Although magnetic resonance imaging (MRI) is widely used, muscle biopsy remains a critical tool in the diagnosis of JIIM, especially in atypical cases1. Recently, LMNA -associated congenital muscular dystrophy (LMNA-CMD) has been reported as a novel and severe form of laminopathy with secondary inflammatory changes mimicking inflammatory myopathies2,3. Mutations in the LMNA gene encoding lamin A/C are responsible for multiple disease phenotypes4. Some of them may present early in life as a congenital muscular dystrophy2,3. ### Patient We report the case of a 26-month-old girl, first child of non-consanguineous parents, who was referred to our department based on a history of progressive muscle weakness with raised creatine kinase (CK) and a muscle biopsy showing marked inflammation. There was no family history of neuromuscular or autoimmune diseases. She was born by normal uncomplicated delivery; no reduced fetal movements were described by the mother during pregnancy. By 1 year of age, she was … Address correspondence to Dr. E. Moraitis, Rheumatology Department, Great Ormond Street Hospital for Children, Great Ormond Street, London, WC1N 3JH, UK. E-mail: elena.moraitis.13{at}ucl.ac.uk
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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 | 0.001 | 0.004 |
| Meta-epidemiology (narrow) | 0.002 | 0.001 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.001 | 0.000 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.001 | 0.002 |
| Open science | 0.002 | 0.001 |
| Research integrity | 0.006 | 0.005 |
| Insufficient payload (model declined to judge) | 0.004 | 0.002 |
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".