Key result
Loss of the Dp140 dystrophin isoform was associated with significantly lower general intelligence (mean FSIQ 78.88 vs 90.31, p=0.005) and poorer neuropsychological performance in patients with dystrophinopathies.
Why the study?
Does the loss of Dp140 increase cognitive impairment in patients with Duchenne and Becker muscular dystrophies?
Population
53 patients genetically diagnosed with Duchenne muscular dystrophy, Intermediate muscular dystrophy, and…
Comparison
Loss of Dp140 vs Preserved Dp140
Design
Cross-sectional
Authors
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Dp140 loss may inform cognitive monitoring in dystrophinopathies; extends isoform-phenotype links but leaves causality and interventions open.
Cross-Sectional (n=53)
Does the loss of Dp140 increase cognitive impairment in patients with Duchenne and Becker muscular dystrophies?
Absolute Event Rate: 78.88% vs 90.31%
p-value: p=0.005
Loss of the distal dystrophin isoform Dp140 is associated with a higher risk of intellectual impairment in patients with dystrophinopathies.
Chamova et al. (2013) conducted a cross-sectional in Duchenne, Intermediate, and Becker muscular dystrophies (n=53). Loss of Dp140 isoform vs. Preserved Dp140 isoform was evaluated on Full Scale Intelligence Quotient (FSIQ) (p=0.005). Loss of the Dp140 dystrophin isoform was associated with significantly lower general intelligence (mean FSIQ 78.88 vs 90.31, p=0.005) and poorer neuropsychological performance in patients with dystrophinopathies.
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