Dystonia, Paroxysmal Disorders & NBIA
The Dystonia, Paroxysmal Disorders & NBIA Disease Knowledge Hub provides reference information on care of Dystonias, Paroxysmal Disorders & Neurodegeneration with Brain Iron Accumulation (NBIA).
Patient Journey movies
To read subtitles in a specific language, please click on the gear wheel in the lower right corner of the video in full screen mode and choose a language.
ERN-RND – Patient Journey for Dystonia: Lilys Journey
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.
ERN-RND Short Movie – Huntington’s Disease and Cervical Dystonia
Living with a rare disease is a challenge, not only for the patients themselves, but also for their loved ones who often are also their carers. Our scientific movie tells the story of two friends – one with cervical dystonia, the other with a twin brother having Huntington’s Disease – who meet over the years and talk about their lifes. Thereby they get to talk about the different stages of the diseases and the challenges they have to face in everyday life. The story is based on patient experience
Disease Knowledge Documents
Information and knowledge that has been developed or endorsed by ERN-RND can be found in blue boxes.
ERN-RND Centres for Dystonia, Paroxysmal Disorders & NBIA
Care Standards
Available in many European languages .
Dystonias
Diagnosis
Clinical Rating Scale
Guidelines
Therapeutic and Treatment Algorithm
Paroxysmal Disorders
Diagnosis
Diagnostic Flowchart for Paroxysmal Disorders (latest update 02/2026)
Therapeutic and Treatment Algorithm
NBIA
Clinical Rating Scales
Clinical Rating Scale for Pantothenate-Kinase-Associated Neurodegeneration (PKAN)
Guidelines
NBIA Guideline (latest update 01/2026)
Cross-cutting thematic areas
Therapeutic and Treatment Algorithm
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.
(external webpage)
Online Medical Education
Dystonia
- 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
- 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
- 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
Paroxysmal disorders
- Paroxysmal dyskinesias by Giovanna Zorzi
Cross-cutting thematic areas
- Drug Therapy and Neurorehabilitation by Anna Castagna
- Botulinum Toxin by Francesca Morgante
Patient Journeys
Available in many European languages.
Patient Journey for Cervical Dystonia
Patient Journey map for Cervical Dystonia
A patient journey map for people living with Cervical Dystonia (original paper)
Patient Journey for Alternating Hemiplegia of Childhood
(in cooperation with epiCARE)
Information for Patients
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.
