title: Neurometabolic disorders are treatable causes of dystonia.
abstract: A broad range of rare inherited metabolic disorders can present with dystonia. For clinicians, it is important to recognize dystonic features, but it can be complicated by the mixed and complex clinical picture seen in many neurometabolic patients. Careful phenotyping is the first step towards the diagnosis of the underlying condition and subsequent targeted treatment, further supported by imaging, biochemical diagnostics and the availability of modern diagnostic techniques such as next generation sequencing. As several neurometabolic disorders are treatable causes of dystonia, these should have priority in the diagnostic process. In the symptomatic treatment of dystonia, several therapeutic options are available. Awareness for the occurrence and optimal treatment of dystonia and other movement disorders in neurometabolic conditions is important because these symptoms can have a substantial impact on the quality of life and daily functioning; this effect is not only exerted by the dystonia itself, but also by the frequently associated non-motor features. In this paper, the highlights and key concepts of neurometabolic forms of dystonia are discussed, with a focus on phenomenology, the diagnostic approach, the most important neurometabolic aetiologies, co-occurring non-motor features and therapeutic options.
authors: Department of Neurology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
authors: A
authors: A
authors: Kuiper
authors: Department of Neurology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
authors: H
authors: H
authors: Eggink
authors: Department of Neurology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
authors: M A J
authors: MA
authors: Tijssen
authors: Department of Neurology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands. Electronic address: t.j.de.koning@umcg.nl.
authors: T J
authors: TJ
authors: de Koning
mesh_terms: D001928:Brain Diseases, Metabolic / Q000150:complications* / Q000175:diagnosis / Q000628:therapy*; D004421:Dystonia / Q000175:diagnosis / Q000209:etiology* / Q000628:therapy*; D020821:Dystonic Disorders / Q000175:diagnosis / Q000209:etiology / Q000628:therapy; D006801:Humans; D009043:Motor Activity / Q000502:physiology; D009046:Motor Neurons / Q000502:physiology; D009069:Movement Disorders / Q000175:diagnosis / Q000209:etiology / Q000628:therapy; D011788:Quality of Life
keywords: Dystonia; Inborn errors of metabolism; Next generation sequencing; Non-motor symptoms; Quality of life