The Hidden Disease: Delayed Diagnosis in Duchenne Muscular Dystrophy and Co-Occurring Conditions.

Irene LeeCassie TurnageRyan SutylaPaul MitchellHazel LindahlAnna JesusRebecca J Scharf

Published in: Journal of developmental and behavioral pediatrics : JDBP (2022)

The data suggest an association between the presence of co-occurring neurocognitive conditions and a later age of DMD diagnosis. One cost-effective diagnostic step that can be implemented by all pediatric practitioners is testing serum creatinine kinase (CK) in any child with motor delays or hypotonia, even in the context of other behavioral or cognitive disabilities.

Keyphrases

duchenne muscular dystrophy
muscular dystrophy
protein kinase
primary care
electronic health record
bipolar disorder
big data
metabolic syndrome
artificial intelligence