Article
Brody Disease, an Early-Onset Myopathy With Delayed Relaxation and Abnormal Gait: A Case Series of 9 Children.
Neurology - 12 Mar 2024
Verhoeven Jamie I, Kramer Jasper, Seeger Juergen, Molenaar Joery P, Braakman Hilde, Kamsteeg Erik-Jan, Rodenburg Richard J, Kusters Benno, Koudijs Suzanne, Van Engelen Baziel G, Erasmus Corrie E, Voermans Nicol C
Abstract excerpt
Brody disease is a rare autosomal recessive myopathy, caused by pathogenic variants in the ATP2A1 gene. It is characterized by an exercise-induced delay in muscle relaxation, often reported as muscle stiffness. Children may manifest with an abnormal gait and difficulty running. Delayed relaxation is commonly undetected, resulting in a long diagnostic delay. Almost all published cases so far were adults with...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.