Key result
In a national cohort of 73 boys with Duchenne muscular dystrophy, molecular analysis showed 64% deletions, 18% duplications, and 18% point mutations, with large variability in disease progression.
Why the study?
With new gene-related treatments developing for DMD, precise genetic diagnosis and knowledge of natural history diversities are vital.
Population
94 boys with DMD, aged 0-18 years, in Norway
Design
Nationwide cohort study
Authors
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Supports individualized cardiac monitoring in pediatric DMD; leaves open genotype-specific predictors of LV dysfunction progression.
Cohort (n=73)
Yes
This nationwide Norwegian cohort study highlights the large variability of disease progression in pediatric Duchenne muscular dystrophy, including the onset of left ventricular dysfunction requiring treatment at a mean age of 12.1 years.
Annexstad et al. (2019) conducted a cohort in Duchenne muscular dystrophy (n=73). Duchenne muscular dystrophy was evaluated on Genetic and clinical characteristics. In a national cohort of 73 boys with Duchenne muscular dystrophy, molecular analysis showed 64% deletions, 18% duplications, and 18% point mutations, with large variability in disease progression.
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