Muscle ultrasonography in Costello syndrome: unveiling new clinical insights of a complex muscular phenotype
Ultrasound reveals muscle changes in rare genetic syndrome while cell studies point to druggable metabolic pathways for future treatment.
This study characterized the muscle phenotype of Costello syndrome (rare HRAS-mutant RASopathy) in 20 patients using ultrasound, finding universal fibroadipose infiltration; in vitro HRAS-mutant myoblast studies revealed impaired myogenic differentiation and abnormal lipid accumulation as potential therapeutic targets. The findings support muscle ultrasound as a monitoring tool in CS and related RASopathies and identify metabolic pathways for future therapeutic intervention.
What the study was
- Study design
- Monocentric observational study + in vitro preclinical component
- Population
- Costello syndrome (RASopathy, HRAS mutation); n=20 participants (13F, 7M; median age 19 years)
- Sample size
- 20
- Category
- Diagnostics
- Maturity
- Exploratory
- Journal
- Orphanet Journal of Rare Diseases
Why it surfaced
Characterizes novel muscle phenotype in ultra-rare Costello syndrome (n=20); preclinical mechanistic data supports therapeutic development; Orphanet JORD publication.
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