Dystonia

Reference work entry

Dystonia is characterized by sustained, nonsuppressible contractions of agonist and antagonist muscles, resulting in twisting and repetitive movements that typically lead to abnormal postures (Friedman and Standaert 2001; Brűggermann and Klein 2010).

Synonyms and Related Disorders

Dystonia (types 1–19); Primary (idiopathic) dystonia; Secondary dystonia

Genetics/Basic Defects

  1. 1.
    Genetically defined forms of the primary dystonias and dystonia-plus syndromes (Brűggermann and Klein 2010)
    1. a.

      Monogenic forms of dystonia have been assigned the acronym DYT according to the gene or gene locus involved

       
    2. b.

      This assortment of clinical rather than heterogeneous dystonias and dyskinesias is represented by a current list of 20 DYTs, in which monogenic forms of dystonia are included in chronological order based on first appearance in the literature

       
    3. c.
      Although this listing of DYTs can serve as an orientation, it does not represent a logical classification in the strict sense of the word. Rather,...

Keywords

Spinocerebellar Ataxia Cervical Dystonia Autosomal Dominant Inheritance Focal Dystonia Episodic Ataxia 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.
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References

  1. Albanese, A., Barnes, M. P., Bhatia, K. P., et al. (2006). A systemic review on the diagnosis and treatment of primary (idiopathic) dystonia and dystonia plus syndrome: report of an EFNS/MDS-ES Task Force. European Journal of Neurology, 13, 433–444.PubMedCrossRefGoogle Scholar
  2. Bhidayasiri, R. (2006). Dystonia. Genetics and treatment update. The Neurologist, 12, 74–85.PubMedCrossRefGoogle Scholar
  3. Bressman, S. B., Sabatti, C., Raymond, D., et al. (2000). The DYT1 mutation and guidelines for diagnostic testing. Neurology, 54, 1746–1752.PubMedGoogle Scholar
  4. Brűggermann, N., & Klein, C. (2010). Genetics of primary torsion dystonia. Current Neurology and Neuroscience Reports, 10, 199–206.CrossRefGoogle Scholar
  5. Camargos, S., Scholz, S., Simon-Sanchez, J., et al. (2008). DYT16, A novel young-onset dystonia-parkinsonism disorder: Identification of a segregating mutation in the stress-response protein PRKRA. Lancet Neurology, 7, 207–215.PubMedCrossRefGoogle Scholar
  6. Cloud, L. J., & Jinnah, H. A. (2010). Treatment strategies for dystonia. Expert Opinion on Pharmacotherapy, 11, 5–15.PubMedCrossRefGoogle Scholar
  7. Fahn, S., Bressman, S. B., & Marsden, C. D. (1998). Classification of dystonia. Advances in Neurology, 78, 1–10.PubMedGoogle Scholar
  8. Friedman, J., & Standaert, D. G. (2001). Movement disorders. Neurologic Clinics, 19, 681–705.PubMedCrossRefGoogle Scholar
  9. Furukawa, Y. (2009). GTP cyclohydrolase 1-Dopa-responsive dystonia. Gene Reviews. Retrieved August 4, 2009. Available at: http://www.ncbi.nlm.nih.gov/books/NBK1508/
  10. Goetz, D. G., & Horn, S. S. (2001). Treatment of tremor and dystonia. Neurology Clinlical, 19, 129–144, vi–vii.Google Scholar
  11. Harbo, H. F., Finsterer, J., Baets, J., et al. (2009). EFNS guidelines on the molecular diagnosis of neurogenetic disorders: general issues, Huntington’s disease, Parkinson’s disease and dystonias. European Journal of Neurology, 16, 777–785.PubMedCrossRefGoogle Scholar
  12. Klein, C. (2008). DYT16: A new twist to familial dystonia. Lancet Neurology, 7, 192–193.PubMedCrossRefGoogle Scholar
  13. Klein, C., Breakefield, X. O., & Ozelius, L. J. (1999). Genetics of primary dystonia. Seminars in Neurology, 19, 271–280.PubMedCrossRefGoogle Scholar
  14. Klein, C., & Ozelius, L. J. (2002). Dystonia: Clinical features, genetics, and treatment. Current Opinion in Neurology, 15, 491–497.PubMedCrossRefGoogle Scholar
  15. Krauss, J. K., & Jankovic, J. (2002). Head injury and posttraumatic movement disorders. Neurosurgery, 50, 927–939; discussion 939–940.PubMedGoogle Scholar
  16. Müller, U., Steinberger, D., & Nemeth, A. H. (1998). Clinical and molecular genetics of primary dystonias. Neurogenetics, 1, 165–177.PubMedCrossRefGoogle Scholar
  17. Nemeth, A. H. (2006). Dystonia overview. Gene Reviews. Retrieved January 23, 2006. Available at: http://www.ncbi.nlm.nih.gov/books/NBK1155/
  18. Németh, A. H. (2002). The genetics of primary dystonias and related disorders. Brain, 125(Pt 4), 695–721.PubMedCrossRefGoogle Scholar
  19. Ozelius, L., Kramer, P., Moskowitz, C. B., et al. (1989). Human gene for torsion dystonia located on chromosome 9q32-q34. Neuron, 2, 1427–1434.PubMedCrossRefGoogle Scholar
  20. Schlaggar, B. L., & Mink, J. W. (2003). Movement disorders in children. Pediatrics in Review, 24, 39–51.PubMedCrossRefGoogle Scholar
  21. Trošt, M. (2003). Dystonia update. Current Opinion in Neurology, 16, 495–500.PubMedGoogle Scholar
  22. Valente, E. M., Bentivoglio, A. R., Cassetta, E., et al. (2001). DYT13, a novel primary torsion dystonia locus, maps to chromosome 1p36.13–36.32 in an Italian family with cranial-cervical or upper limb onset. Annals of Neurology, 49, 362–366.PubMedCrossRefGoogle Scholar
  23. Vitek, J. L. (2002). Pathophysiology of dystonia: A neuronal model. Movement Disorders, 17(Suppl 3), S49–S62.PubMedCrossRefGoogle Scholar

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