Early onset dystonia


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Inclusion criteria

– Dystonia affecting any body part, usually spreading to involve multiple body regions (e.g. multifocal, segmental, generalised)

– Age at onset <31 years or later onset with family history of early onset dystonia

– May be paroxysmal/episodic dystonia

– May be associated with myoclonus as in myoclonic dystonia

 

This disease category includes dopa responsive dystonia.

 

Exclusion criteria

– Underlying cause for clinical syndrome identified, e.g. cerebral palsy, structural brain lesion, Wilson disease, psychogenic dystonia

Prior genetic testing guidance

– Results should have been reviewed for all genetic tests undertaken, including disease-relevant genes in exome sequencing data. The patient is not eligible if they have a molecular diagnosis for their condition.

– Genetic testing should continue according to routine local practice for this phenotype regardless of recruitment to the project; results of these tests must be submitted via the ‘Genetic investigations’ section of the data capture tool to allow comparison of WGS with current standard testing.

PLEASE NOTE: The sensitivity of WGS compared to current diagnostic genetic testing has not yet been established. It is therefore important that tests which are clinically indicated under local standard practice continue to be carried out.

prior genetic testing genes Testing of the following genes should be carried out PRIOR TO RECRUITMENT where this is in line with current local practice: – TOR1A

Closing statement

These requirements will be kept under continual review during the main programme and may be subject to change.

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