[Dystonia]

Dystonia is one of the most common hyperkinetic movement disorders in childhood and represents a significant cause of disability and impaired quality of life. Early recognition remains challenging due to its marked clinical and etiological heterogeneity and its frequent misdiagnosis as other movement disorders or functional neurological conditions. In 2025, an updated international consensus on the definition and classification of dystonia was published, maintaining a two-axis framework that integrates clinical characteristics (Axis I) and etiological and pathophysiological mechanisms (Axis II). In pediatric patients, dystonia may arise from genetic, acquired, structural, or functional causes, highlighting the importance of identifying treatable conditions such as dopa-responsive dystonia, Wilson disease, and GLUT-1 deficiency. Diagnostic evaluation requires a systematic approach, including targeted laboratory studies for reversible etiologies, brain magnetic resonance imaging, and genetic testing in selected cases. Management is individualized and may involve pharmacological therapies, focal treatment with botulinum toxin, and surgical options such as deep brain stimulation for refractory dystonia. Status dystonicus represents the most severe manifestation and constitutes a medical emergency requiring prompt recognition and intervention. These recommendations provide a practical and updated framework for the diagnosis and management of pediatric dystonia.