The Twists of Pediatric Dystonia: Phenomenology, Classification, and Genetics

摘要

This article aims to provide a practical review of pediatric dystonia from a clinician’s perspective. The focus is on the underlying genetic causes, recent findings, and treatable conditions. Dystonia can occur in an isolated fashion or accompanied by other neurological or systemic features. The clinical presentation is often a complex overlap of neurological findings with a large differential diagnosis. We recommend an approach guided by thorough clinical evaluation, brain magnetic resonance imaging (MRI), biochemical analysis, and genetic testing to hone in on the diagnosis. This article highlights the clinical and genetic complexity of pediatric dystonia and underlines the importance of a genetic diagnosis for therapeutic considerations.