Movement disorders are one of the important neurological manifestations of inherited metabolic disorders. Important clues to the presence of an underlying inborn error of metabolism are early onset, presence of neuroregression or degeneration, parental consanguinity, sibling affection, paroxysmal events, waxing and waning course, skin or hair changes, absence of a perinatal insult or any structural cause, and presence of identifiable triggers. It is particularly important to recognize this class of movement disorders as several of them are eminently treatable and may often need disease-specific therapy besides symptomatic treatment. The current review focusses on the movement disorders associated with inherited metabolic defects in children, with emphasis on treatable disorders.


中文翻译：

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儿童遗传性代谢疾病中的运动障碍。



运动障碍是遗传性代谢障碍的重要神经表现之一。存在潜在先天性代谢缺陷的重要线索是早发、存在神经退行或变性、父母近亲、兄弟姐妹感情、阵发性事件、消退过程、皮肤或头发变化、没有围产期损伤或任何结构性原因，以及可识别的触发因素的存在。认识此类运动障碍尤为重要，因为其中一些运动障碍是可以治疗的，除了对症治疗外，通常可能还需要针对特定​​疾病的治疗。目前的综述重点关注与儿童遗传性代谢缺陷相关的运动障碍，重点是可治疗的疾病。