Purpose of review: This article provides an overview of the clinical features and disorders associated with movement disorders in childhood. This article discusses movement disorder phenomena and their clinical presentation in infants and children and presents a diagnostic approach to suspected genetic disorders with a focus on treatable conditions.
Recent findings: Technologic advances in molecular genetic testing over the past decade continue to lead to the discovery of new diseases. This article discusses the clinical presentation and early experience with treatment for several recently described genetic forms of infantile-onset and childhood-onset dystonia and chorea.
Summary: The clinical spectrum of pediatric movement disorders is broad and heterogeneous, ranging from acute or transient self-limited conditions to conditions that cause profound lifelong motor disability. Most movement disorders in childhood are chronic, and the large number of rare, genetic conditions associated with pediatric movement disorders can pose a significant diagnostic challenge. Recognition of distinctive diagnostic clues in the history and examination can facilitate the diagnosis of potentially treatable disorders.