FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY: ATYPICAL PRESENTATIONS AND DIAGNOSTIC CONSIDERATIONS
Bibliographic record
Abstract
Objectives: Facioscapulohumeral muscular dystrophy (FSHD) is a slowly progressive myopathy usually presenting with weakness of the face and scapulae. Atypical presentations have been reported. FSHD is diagnosed by demonstrating a deletion in a 3.3 kb DNA repeat motif (D4Z4) at chromosome 4q35 in 95% of individuals. However, interpretation of molecular genetic testing can be problematic, making definitive diagnosis difficult. The purpose of this case series is to report suspected geno-phenotypic variations in two patients with features suggestive of FSHD. Methods: Case Series. Results: A 13 year-old male presented with asymmetric scapular winging and hip girdle weakness, along with bilateral weakness of the face and deltoids. There was no ophthalmoparesis and reflexes were normal. He reported poor exercise tolerance and was fatigueable during the exam. The second patient, a 4 year-old female, presented with congenital right ophthalmoparesis, severe articulation disorder, expressive language, fine and groß motor delays. Macrocephaly, facial weakness, hypotonia and hyporeflexia were evident. She had a mildly elevated CK but an unremarkable EMG. Neither child had visual or hearing impairments nor did they report a family history of FSHD. Given the atypical clinical presentations, genetic testing for FSHD was performed. Southern blot analysis using the probe 13E-11 and double digestion with EcoRI and BInI yielded the same result in both patients: three chromosome 10-type D4Z4 repeats and one chromosome 4-type D4Z4 repeats, indicative of a sequence rearrangement. One chromosome 10-type D4Z4 repeat had a large deletion. Should this repeat be the one located on chromosome 4, clinical manifestations of FSHD would be anticipated. Conclusion: In view of the recognized expanding geno-phenotypic spectrum of FSHD, we propose that 4q35 deletions associated with chromsome 4–10 translocations may be symptomatic. This warrants further study.
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 | 0.001 | 0.008 |
| Meta-epidemiology (narrow) | 0.002 | 0.001 |
| Meta-epidemiology (broad) | 0.001 | 0.000 |
| Bibliometrics | 0.002 | 0.001 |
| Science and technology studies | 0.001 | 0.002 |
| Scholarly communication | 0.001 | 0.002 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.004 | 0.001 |
| Insufficient payload (model declined to judge) | 0.003 | 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".