Countless visits to doctors, the feeling of "something's wrong", being undiagnosed for years - many rare disease patients are familiar with that. Our patient journey movie on Dystonia shows the different stations of the disease as it progresses - from first symptoms over diagnosis to treatment - and how it affects a patient's everyday life as well as ways of coping.
(To see subtitles in different languages click on the gear wheel at the right corner on the bottom and choose a language.)
The Dystonias, NBIA & Paroxysmal Disorders Disease Knowledge Page provides reference information on care of dystonias, NBIA & paroxysmal disorders.
Information and knowledge that has been developed or endorsed by ERN-RND is found in the blue boxes.
ERN-RND centres for Dystonia, NBIA and Paroxysmal Disorders
Educational webinars
- DBS in Dystonia - the Network Perspective by Willeke van Roon-Mom
- Clinical Neurophysiology in Dystonia by Anke Snijders
- The role of dopamine in the pathophysiology of the Allan-Herndon-Dudley syndrome/MCT8 deficiency by Nina Wilpert
- Drug Therapy and Neurorehabilitation by Anna Castagna
- Botulinum Toxin by Francesca Morgante
- Neuroimaging for Implantation and Programming in Dystonia Patients by Martin Reich
- MER and LFP Signals for Implantation and Programming in Dystonia Patients by Nicolo Pozzi
- Combined and Complex Dystonias by Norbert Brueggemann
- Strategies of DBS Troubleshooting in Dystonia by Norbert Kovacvs
- Dystonic Crisis and Reactions by Victoria Gonzalez
- Paroxysmal dyskinesias by Giovanna Zorzi
- Genetic dystonia and treatment by Sylvia Boesch
- Treatable dystonias & dystonia in inborn errors of metabolism by Tom de Koning
- Clinical evaluation of dystonia by Kailash Bhatia
- Ultrasound diagnostics for cervical dystonia by Tobias Baümer
- RCT on intrathecal baclofen in dystonia by Laura Bonouvrié
Care Standards - Guidelines
Blepharospasm, cervical dystonia, adult spasticity and headache:
Practice Guideline update summary - Botulinum neurotoxin treatment
Primary Dystonia:
EFNS guideline
Pantothenate Kinase-Associated Neurodegeneration (PKAN):
Non-PKAN genetic defects:
Care Standards - Diagnosis
Dystonia:
Diagnostic flowchart for Dystonia
Care Standards - Therapeutic and Treatment Algorithms
Dystonia:
Treatment algorithms for dystonia (updated in June 2025, translations in progress)
Paroxysmal Disorders:
Therapeutic algorithm for paroxysmal disorders
Deep Brain Stimulation:
DBS Match Maker might help to assess suitability for DBS in rare genetic movement disorders. Decision to use the tool and responsibility for data security remains with the submitting institution.
- DBS Match Maker
(external webpage)
Patient Journey
Cervical Dystonia:
Patient Journey - Cervical Dystonia
A patient journey map for people living with Cervical Dystonia (original paper)
Patient organisations
Patient information
Please note that this section includes useful information from a variety of sources provided by ERN-RND members but which hasn’t been endorsed by ERN-RND.