Neurometabolic disorders are treatable causes of dystonia

Research output: Contribution to journalArticle

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.

Details

Authors
External organisations
  • University Medical Center Groningen
Research areas and keywords

Subject classification (UKÄ) – MANDATORY

  • Psychiatry

Keywords

  • Dystonia, Inborn errors of metabolism, Next generation sequencing, Non-motor symptoms, Quality of life
Original languageEnglish
Pages (from-to)455-464
Number of pages10
JournalRevue Neurologique
Volume172
Issue number8-9
Publication statusPublished - 2016 Aug 1
Publication categoryResearch
Peer-reviewedYes
Externally publishedYes