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Dystonia in children and adolescents: a systematic review and a new diagnostic algorithm
  1. Martje E van Egmond1,
  2. Anouk Kuiper1,
  3. Hendriekje Eggink1,
  4. Richard J Sinke2,
  5. Oebele F Brouwer1,
  6. Corien C Verschuuren-Bemelmans2,
  7. Deborah A Sival3,
  8. Marina A J Tijssen1,
  9. Tom J de Koning2,3
  1. 1University of Groningen, University Medical Center Groningen, Department of Neurology, Groningen, The Netherlands
  2. 2University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands
  3. 3University of Groningen, University Medical Center Groningen, Department of Pediatrics, Groningen, The Netherlands
  1. Correspondence to Dr Tom J de Koning, University of Groningen, University Medical Center Groningen, Department of Genetics, PO Box 30.001, Groningen 9700 RB, The Netherlands; t.j.de.koning{at}umcg.nl

Abstract

Early aetiological diagnosis is of paramount importance for childhood dystonia because some of the possible underlying conditions are treatable. Numerous genetic and non-genetic causes have been reported, and diagnostic workup is often challenging, time consuming and costly. Recently, a paradigm shift has occurred in molecular genetic diagnostics, with next-generation sequencing techniques now allowing us to analyse hundreds of genes simultaneously. To ensure that patients benefit from these new techniques, adaptation of current diagnostic strategies is needed. On the basis of a systematic literature review of dystonia with onset in childhood or adolescence, we propose a novel diagnostic strategy with the aim of helping clinicians determine which patients may benefit by applying these new genetic techniques and which patients first require other investigations. We also provide an up-to-date list of candidate genes for a dystonia gene panel, based on a detailed literature search up to 20 October 2014. While new genetic techniques are certainly not a panacea, possible advantages of our proposed strategy include earlier diagnosis and avoidance of unnecessary investigations. It will therefore shorten the time of uncertainty for patients and their families awaiting a definite diagnosis.

  • DYSTONIA
  • GENETICS

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