Dystonias

This page provides information on dystonia for which most of it has been endorsed by ERN-RND members. It is structured as follows:

  • Definition
  • ERN-RND centres
  • Diagnosis
  • Care standards
  • Clinical studies & trials
  • Registries
  • Patient organisations
  • Study groups & networks
  • Useful links, training resources, evidence and publications
  • CPMS use case

Definition

According to Dystonia Europe, "dystonia is a neurological movement disorder that causes continuous muscle contractions, leading to twisting and repetitive movements or abnormal postures." Please find more information on Dystonia Europe's website.

ERN-RND centres

We provide the list of dystonia centres, members of ERN-RND, as well as the contact details of medical experts.

See all ERN-RND centres

Diagnosis

  • ERN-RND approved diagnostic flowcharts
    - Diagnostic flowchart for Dystonia in adults according to A. Albanese, M. Di Giovanni and S. Lalli: Dystonia: Diagnosis and Management, Eur J Neurol. 2018 Jul 23. doi: 10.1111/ene.13762. (section: Investigations, Figure 2)
    - Diagnostic flowchart for Dystonia in children and adolescents according to van Egmond ME, Kuiper A, Eggink H, et al. J Neurol Dystonia in children and adolescents: a systematic review and a new diagnostic algorithm Neurosurg Psychiatry 2015;86:774–781.

Care Standards

  • ERN-RND recommended disease rating scales
  • ERN-RND endorsed guidelines

 

Clinical studies & Trials

  • Clinical trials at ERN-RND centres
  • International clinical studies & trials
    ClinicalTrials.gov

Registries

  • Registries to which ERN-RND partners contribute
  • Other registries
    COST dystonia registry
    Dystonia Coalition (USA based)

Patient organisations

Patient organisations are non-profit organisations which are patient-focused where patients and/or carers represent a majority of members in governing bodies (European Medicines Agency, 2014). Herewith, we provide a list of national and European patient organisations that work in the disease area that is covered by ERN-RND.

See all patient organisations

Study Groups & networks

The listed  study groups and disease networks are external networks and groups, which are leaders in the field of research for these disease groups. ERN-RND’s work is based on and complimentary to the work being done by these networks.

Useful links, training resources, evidence and publications

CPMS use case

We organise e-case meetings on dystonia  in order to discuss unsolved cases after comprehensive genetic testing.

Find out more about the CPMS here