Neurometabolic causes of dystonia are heterogenous and can be challenging to diagnose, yet many of these disorders are potentially treatable. The first step in the workup is to clinically phenotype the underlying condition, followed by ordering selected diagnostic tests based on the clinician's judgement and clinical suspicion. In this review, we highlight the diagnostic clues to various disorders, including lysosomal storage diseases, mitochondrial cytopathies, metal storage disorders, organic acidurias, disorders in carbohydrate metabolism, neurotransmitter diseases and vitamin and cofactor deficiencies. We discuss key diagnostic clues to the presence of these conditions, as well as currently available treatments. We highlight that recognition and characterization of these secondary causes of dystonia facilitate their management, including possible treatment of the underlying neurometabolic disorder.

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肌张力障碍的神经代谢原因的临床特征和诊断线索

肌张力障碍的神经代谢原因是异质的，诊断起来可能具有挑战性，但其中许多疾病是有可能治疗的。检查的第一步是对潜在疾病进行临床表型分析，然后根据临床医生的判断和临床怀疑安排选定的诊断测试。在这篇综述中，我们重点介绍了各种疾病的诊断线索，包括溶酶体贮积病、线粒体细胞病变、金属贮积症、有机酸尿症、碳水化合物代谢障碍、神经递质疾病以及维生素和辅因子缺乏症。我们讨论了这些疾病存在的关键诊断线索，以及目前可用的治疗方法。我们强调，对这些肌张力障碍继发性原因的识别和表征有助于对其进行管理，