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A novel diagnostic approach for patients with adult-onset dystonia
  1. Martje E van Egmond1,2,
  2. Tjerk J Lagrand1,2,3,
  3. Gintaute Lizaitiene1,4,
  4. Marenka Smit1,2,
  5. Marina A J Tijssen1,2
  1. 1 Neurology, University Medical Centre Groningen, Groningen, The Netherlands
  2. 2 Expertise Centre Movement Disorders Groningen, University Medical Centre Groningen, Groningen, The Netherlands
  3. 3 Neurology, Princess Alexandra Hospital, Brisbane, Queensland, Australia
  4. 4 Faculty of Medicine, Vilnius University, Vilnius, Lithuania
  1. Correspondence to Dr Marina A J Tijssen, Neurology, University Medical Centre Groningen, Groningen, Netherlands;{at}


Adult-onset dystonia can be acquired, inherited or idiopathic. The dystonia is usually focal or segmental and for a limited number of cases causal treatment is available. In recent years, rapid developments in neuroimmunology have led to increased knowledge on autoantibody-related dystonias. At the same time, genetic diagnostics in sequencing technology have evolved and revealed several new genes associated with adult-onset dystonia. Furthermore, new phenotype–genotype correlations have been elucidated. Consequently, clinicians face the dilemma of which additional investigations should be performed and whether to perform genetic testing or not. To ensure early diagnosis and to prevent unnecessary investigations, integration of new diagnostic strategies is needed.

We designed a new five-step diagnostic approach for adult-onset dystonia. The first four steps are based on a broad literature search and expert opinion, the fifth step, on when to perform genetic testing, is based on a detailed systematic literature review up to 1 December 2021.

The basic principle of the algorithm is that genetic testing is unlikely to lead to changes in management in three groups: (1) patients with an acquired form of adult-onset dystonia; (2) patients with neurodegenerative disorders, presenting with a combined movement disorder including dystonic symptoms and (3) patients with adult-onset isolated focal or segmental dystonia. Throughout the approach, focus lies on early identification of treatable forms of dystonia, either acquired or genetic.

This novel diagnostic approach for adult-onset dystonia can help clinicians to decide when to perform additional tests, including genetic testing and facilitates early aetiological diagnosis, to enable timely treatment.

  • dystonia
  • neurogenetics
  • movement disorders

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  • MEvE and TJL are joint first authors.

  • MEvE and TJL contributed equally.

  • Contributors TJL and MEvE are shared first authors. TJL and MEvE contributed equally. TJL, GL, MS and MEvE were involved in the design and conceptualisation of the study, the literature search, analysis and interpretation of the data, drafting and revision of the manuscript. MAJT was involved in the design and conceptualisation of the study, analysis and interpretation of the data, and revision of the manuscript.

  • Funding TJL was supported by grant from the Jan Meerwaldt Foundation for an Overseas Experience Fellowship for 2021. GL was supported by grant from the European Academy of Neurology as a Research Experience Fellowship for 2020 winner.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.

  • Supplemental material This content has been supplied by the author(s). It has not been vetted by BMJ Publishing Group Limited (BMJ) and may not have been peer-reviewed. Any opinions or recommendations discussed are solely those of the author(s) and are not endorsed by BMJ. BMJ disclaims all liability and responsibility arising from any reliance placed on the content. Where the content includes any translated material, BMJ does not warrant the accuracy and reliability of the translations (including but not limited to local regulations, clinical guidelines, terminology, drug names and drug dosages), and is not responsible for any error and/or omissions arising from translation and adaptation or otherwise.