Pearson Toni S, Pons Roser
Continuum (Minneap Minn). 2019 Aug;25(4):1099-1120. doi: 10.1212/CON.0000000000000756.
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.
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.
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.
本文概述了儿童运动障碍的临床特征及相关疾病。本文讨论了婴儿和儿童运动障碍现象及其临床表现，并提出了针对疑似遗传疾病的诊断方法，重点关注可治疗的疾病。
过去十年分子基因检测技术的进步持续推动新疾病的发现。本文讨论了几种最近描述的婴儿期和儿童期起病的肌张力障碍和舞蹈病的遗传形式的临床表现及早期治疗经验。
儿童运动障碍的临床谱广泛且异质性强，从急性或短暂的自限性疾病到导致严重终身运动残疾的疾病。儿童期的大多数运动障碍是慢性的，与儿童运动障碍相关的大量罕见遗传疾病可能带来重大诊断挑战。在病史和检查中识别独特的诊断线索有助于诊断潜在可治疗的疾病。
