Rigid spine muscular dystrophy due to <i>SEPN1</i> mutation presenting as cor pulmonale
Bibliographic record
Abstract
The nonspecific “rigid spine syndrome” (RSS) is characterized by restricted spine mobility, kyphoscoliosis, reduced vital capacity, and nonprogressive proximal weakness. A subgroup of patients is classified as having rigid spine muscular dystrophy (RSMD), a laminin-α2–positive congenital muscular dystrophy. RSMD linked to chromosome 1p35–361 is caused by mutation in the SEPN1 gene encoding selenoprotein N.2 We describe a patient with RSMD, homozygous for an SEPN1 mutation, who had life-threatening yet reversible right heart failure caused by severe involvement of the diaphragm with nocturnal hypoventilation and pulmonary hypertension. He improved with nocturnal ventilatory assistance. The clinical and genetic findings in his mother and seven siblings are also described. Born to nonconsanguineous healthy parents, the patient was the youngest of 10 children. Developmental motor milestones were normal. Slight difficulty running and climbing stairs, restricted neck movements, elbow contractures, and scoliosis were noted during childhood and adolescence. Family history was unremarkable. He presented at age 26 years with rapidly progressive respiratory and right heart failure with cough, orthopnea, interrupted …
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 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".