Dystonias, NBIA and Paroxysmal Disorders

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

Care Standards - Clinical Rating Scales

Dystonia (Updated 2024):


Pantothenate Kinase-Associated Neurodegeneration (PKAN):

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 Algorithms

Dystonia:

Therapeutic algorithms for dystonia

Paroxysmal Disorders:

Therapeutic algorithm for paroxysmal disorders

Patient Journey

Cervical Dystonia:

Patient Journey - Cervical Dystonia

A patient journey map for people living with Cervical Dystonia (original paper)

Clinical studies & trials

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.

Further useful links, training resources, evidence and publications