Neurometabolic disorders are treatable causes of dystonia

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Neurometabolic disorders are treatable causes of dystonia. / Kuiper, A.; Eggink, H.; Tijssen, M. A.J.; de Koning, T. J.

In: Revue Neurologique, Vol. 172, No. 8-9, 01.08.2016, p. 455-464.

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Kuiper, A. ; Eggink, H. ; Tijssen, M. A.J. ; de Koning, T. J. / Neurometabolic disorders are treatable causes of dystonia. In: Revue Neurologique. 2016 ; Vol. 172, No. 8-9. pp. 455-464.

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TY - JOUR

T1 - Neurometabolic disorders are treatable causes of dystonia

AU - Kuiper, A.

AU - Eggink, H.

AU - Tijssen, M. A.J.

AU - de Koning, T. J.

PY - 2016/8/1

Y1 - 2016/8/1

N2 - 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.

AB - 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.

KW - Dystonia

KW - Inborn errors of metabolism

KW - Next generation sequencing

KW - Non-motor symptoms

KW - Quality of life

UR - http://www.scopus.com/inward/record.url?scp=84992110590&partnerID=8YFLogxK

U2 - 10.1016/j.neurol.2016.07.011

DO - 10.1016/j.neurol.2016.07.011

M3 - Article

C2 - 27561437

AN - SCOPUS:84992110590

VL - 172

SP - 455

EP - 464

JO - Revue Neurologique

JF - Revue Neurologique

SN - 0035-3787

IS - 8-9

ER -