Brody Disease, an Early-Onset Myopathy With Delayed Relaxation and Abnormal Gait: A Case Series of 9 Children
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Publication year
2024Source
Neurology, 102, 5, (2024), pp. e209164, article e209164ISSN
Publication type
Article / Letter to editor
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Organization
Neurology
Human Genetics
Paediatrics
Pathology
Journal title
Neurology
Volume
vol. 102
Issue
iss. 5
Page start
p. e209164
Subject
Human Genetics - Radboud University Medical Center; Human Genetics - Radboud University Medical Center - DCMN; Neurology - Radboud University Medical Center; Neurology - Radboud University Medical Center - DCMN; Paediatrics - Radboud University Medical Center; Paediatrics - Radboud University Medical Center - DCMN; Pathology - Radboud University Medical Center - DCMNAbstract
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 childhood onset and adult diagnosis. With diagnostic next-generation sequencing, an increasing number of patients are diagnosed in childhood. We describe the clinical and genetic features of 9 children from 6 families with Brody disease. All presented with exercise-induced delayed relaxation, reported as difficulty running and performing sports. Muscle strength and mass was normal, and several children even had an athletic appearance. However, the walking and running patterns were abnormal. The diagnostic delay ranged between 2 and 7 years. Uniformly, a wide range of other disorders were considered before genetic testing was performed, revealing pathogenic genetic variants in ATP2A1. To conclude, this case series is expected to improve clinical recognition and timely diagnosis of Brody disease in children. We propose that ATP2A1 should be added to gene panels for congenital myopathies, developmental and movement disorders, and muscle channelopathies.
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- Faculty of Medical Sciences [93207]
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