Clinical and Genetic Characteristics in Young, Glucocorticoid-Naive Boys With Duchenne Muscular Dystrophy.

Marianela SchiavaRachel AmosHenriette VanRuitenMichael P McDermottWilliams B MartensStephanie GregoryAnna MayhewElaine McCollRabi TawilTracey WillisKate BushbyRobert C GriggsMichela Guglierinull null

Published in: Neurology (2021)

This study describes clinical and genetic characteristics of a sample of young glucocorticoid-naïve boys with DMD. A low threshold for CK testing can lead to an earlier diagnosis. Motor and speech delay were common presenting symptoms.The effects of low, pre-treatment height on growth and adults height requires further study. These findings may promote earlier recognition of DMD and inform study design for future clinical trials.

Keyphrases

duchenne muscular dystrophy
clinical trial
body mass index
genome wide
muscular dystrophy
copy number
physical activity
case report
study protocol
sleep quality
protein kinase