Dystonia is a movement disorder characterized by sustained muscle contractions causing twisting and repetitive movements or abnormal postures. Primary dystonias (also known as primary torsion dystonia or idiopathic torsion dystonia) are those in which dystonia is the only clinical feature and for which there is no known cause whereas secondary dystonias (non-primary dystonia) can exist as a symptom of another neurological disorder, such as Parkinson’s disease, and for which there is an identifiable acquired or exogenous cause.

The NINDS Repository distributes DNA and lymphoblastoid cell lines (LCLs) obtained from individuals classified as having primary dystonias. Additionally, every sample is accompanied with a set of standardized and de-indentified clinical data which is available for download (see link for phenotypic data below). For some subjects, a causative mutation has been reported (listed amongst clinical data) but in most cases, no genetic cause has been identified. The NINDS Repository also includes samples from unaffected (At-Risk) and affected blood relatives of subjects, as well as normal healthy individuals (including population controls).

Disease Sub-Collection at a Glance



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Primary Dystonias represented in the NINDS Repository

  • Focal dystonia (affecting one area of the body) 
    • Craniofacial/oromandibular dystonia (face and/or jaw)
    • Cervical dystonia (neck)
    • Blepharospasm (eyes)
    • Limb dystonia (hands and/or limbs)
    • Spasmodic dysphonia (larynx)
  • Generalized dystonia (affecting at least one leg, the trunk, and another region)
  • Segmental dystonia (affecting two or more adjacent body regions)
  • Multifocal dystonia (affecting two or more adjacent body regions)
  • Hemi-dystonia (affecting one half of the body)

Dystonia Samples with Genotyping Data


Acknowledgement Guidelines 


Submission Information

For questions please contact the NINDS Repository team at NINDS@Coriell.org.