ArticleCureus2024
Severe Scoliosis As the Clue for an Early Onset Myopathy, Areflexia, Respiratory Distress, and Dysphagia (EMARDD) Diagnosis During Childhood: A Case Report.
Article in Cureus, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 2 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
2 citing papers in PubMed.
- Large phenotypic variability with severe respiratory involvement inJournal of neuromuscular diseases · 2026Article
- Reducing Body Myopathy in Female Patients WithNeurology. Genetics · 2026Article
Corrections and comments
- Erratum issued
Authors and funding
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We present a novel case of a school-aged boy with scoliosis and progressive muscle weakness, featuring new onset hypotonia and respiratory distress. Genetic analysis revealed two heterozygous variants in the MEGF10 gene: one known pathogenic variant and one novel missense variant. This case illustrates the heterogeneous phenotype of early onset myopathy, areflexia, respiratory distress, and dysphagia (EMARDD), according to the mutations associated, and underscores the importance of early genetic testing. Among the few cases described in the literature, few report symptom onset and diagnoses after the first years of life, unlike the case reported here. Additionally, this report alerts for the suspicion of myopathy in children with severe scoliosis and recurrent respiratory infections and revises the current knowledge of EMARDD, emphasizing the necessity for comprehensive and timely treatment approaches.
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