Skip to main content

Phenomenology of Dystonia

  • Chapter
  • First Online:

Abstract

Dystonia has a rich and varied history in nineteenth- and twentieth-century neurology. The phenomenology and breadth of forms of dystonia make this a challenging disorder for the neurologist and the patient. In the chapter, we review the clinical features of focal and generalized dystonic syndromes and illustrate how phenomenology can guide the evaluation and management of patients.

This is a preview of subscription content, log in via an institution.

Buying options

Chapter
USD   29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD   84.99
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD   109.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book
USD   159.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Learn about institutional subscriptions

References

  1. Munts AG, Koehler PJ. How psychogenic is dystonia? Views from past to present. Brain. 2010;133(Pt 5):1552–64. https://doi.org/10.1093/brain/awq050.

    Article  PubMed  Google Scholar 

  2. Goetz CG, Chmura TA, Lanska DJ. History of dystonia: part 4 of the MDS-sponsored history of movement disorders exhibit, Barcelona, June, 2000. Mov Disord. 2001;16(2):339–45.

    Article  CAS  Google Scholar 

  3. Lanska DJ. Chapter 33: the history of movement disorders. Handb Clin Neurol. 2010;95:501–46. https://doi.org/10.1016/S0072-9752(08)02133-7.

    Article  PubMed  Google Scholar 

  4. Klein C, Fahn S. Translation of Oppenheim’s 1911 paper on dystonia. Mov Disord. 2013;28(7):851–62. https://doi.org/10.1002/mds.25546.

    Article  PubMed  Google Scholar 

  5. Herz E. Dystonia. Arch Neurol Psych. 1944;51:305–55.

    Article  Google Scholar 

  6. Fahn S. Concept and classification of dystonia. Adv Neurol. 1988;50:1–8.

    Article  CAS  Google Scholar 

  7. Fahn S, Bressman SB, Marsden CD. Classification of dystonia. Adv Neurol. 1998;78:1–10.

    Article  CAS  Google Scholar 

  8. Bressman SB. Dystonia genotypes, phenotypes, and classification. Adv Neurol. 2004;94:101–7.

    PubMed  Google Scholar 

  9. Albanese A, Asmus F, Bhatia KP, Elia AE, Elibol B, Filippini G, et al. EFNS guidelines on diagnosis and treatment of primary dystonias. Eur J Neurol. 2011;18(1):5–18. https://doi.org/10.1111/j.1468-1331.2010.03042.x.

    Article  CAS  PubMed  Google Scholar 

  10. Albanese A, Bhatia K, Bressman SB, Delong MR, Fahn S, Fung VS, et al. Phenomenology and classification of dystonia: a consensus update. Mov Disord. 2013;28(7):863–73. https://doi.org/10.1002/mds.25475.

    Article  PubMed  PubMed Central  Google Scholar 

  11. Zeman W, Kaelbling R, Pasamanick B, Jenkins JT. Idiopathic dystonia musculorum deformans. I. the hereditary pattern. Am J Hum Genet. 1959;11(2 Part 1):188–202.

    CAS  PubMed  PubMed Central  Google Scholar 

  12. Eldridge R. The torsion dystonias: literature review and genetic and clinical studies. Neurology. 1970;20(11):1–78. https://doi.org/10.1212/wnl.20.11_part_2.1.

    Article  CAS  PubMed  Google Scholar 

  13. Ozelius L, Kramer PL, Moskowitz CB, Kwiatkowski DJ, Brin MF, Bressman SB, et al. Human gene for torsion dystonia located on chromosome 9q32-q34. Neuron. 1989;2(5):1427–34.

    Article  CAS  Google Scholar 

  14. Ozelius LJ, Hewett JW, Page CE, Bressman SB, Kramer PL, Shalish C, et al. The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein. Nat Genet. 1997;17(1):40–8. https://doi.org/10.1038/ng0997-40.

    Article  CAS  PubMed  Google Scholar 

  15. Frucht SJ. Focal task-specific dystonia-from early descriptions to a new, modern formulation. Tremor Other Hyperkinet Mov (N Y). 2014;4:230. https://doi.org/10.7916/D8VD6WHP.

    Article  Google Scholar 

  16. Gowers WRA. Manual of diseases of the nervous system. London: J. and A. Churchill; 1888.

    Book  Google Scholar 

  17. Marsden CD. The problem of adult-onset idiopathic torsion dystonia and other isolated dyskinesias in adult life (including blepharospasm, oromandibular dystonia, dystonic writer’s cramp, and torticollis, or axial dystonia). Adv Neurol. 1976;14:259–76.

    CAS  PubMed  Google Scholar 

  18. Marsden CD, Sheehy MP. Writer’s cramp. Trends Neurosci. 1990;13(4):148–53.

    Article  CAS  Google Scholar 

  19. Broussolle E, Laurencin C, Bernard E, Thobois S, Danaila T, Krack P. Early illustrations of Geste Antagoniste in cervical and generalized dystonia. Tremor Other Hyperkinet Mov (N Y). 2015;5:332. https://doi.org/10.7916/D8KD1X74.

    Article  Google Scholar 

  20. Meige H, Feindel E. Tics and their treatment. Translated and edited, with a critical appendix by SAK Wilson. New York: William Wood and company; 1907.

    Google Scholar 

  21. Greene PE, Bressman S. Exteroceptive and interoceptive stimuli in dystonia. Mov Disord. 1998;13(3):549–51. https://doi.org/10.1002/mds.870130329.

    Article  CAS  PubMed  Google Scholar 

  22. Termsarasab P, Thammongkolchai T, Frucht SJ. Medical treatment of dystonia. J Clin Mov Disord. 2016;3:19. https://doi.org/10.1186/s40734-016-0047-6.

    Article  PubMed  PubMed Central  Google Scholar 

  23. Patel N, Jankovic J, Hallett M. Sensory aspects of movement disorders. Lancet Neurol. 2014;13(1):100–12. https://doi.org/10.1016/S1474-4422(13)70213-8.

    Article  PubMed  PubMed Central  Google Scholar 

  24. Chan J, Brin MF, Fahn S. Idiopathic cervical dystonia: clinical characteristics. Mov Disord. 1991;6(2):119–26. https://doi.org/10.1002/mds.870060206.

    Article  CAS  PubMed  Google Scholar 

  25. Termsarasab P, Tanenbaum DR, Frucht SJ. The phenomenology and natural history of idiopathic lower cranial dystonia. J Clin Mov Disord. 2014;1:3. https://doi.org/10.1186/2054-7072-1-3.

    Article  PubMed  PubMed Central  Google Scholar 

  26. Frei K. Posttraumatic dystonia. J Neurol Sci. 2017;379:183–91. https://doi.org/10.1016/j.jns.2017.05.040.

    Article  PubMed  Google Scholar 

  27. Defazio G, Hallett M, Jinnah HA, Conte A, Berardelli A. Blepharospasm 40 years later. Mov Disord. 2017;32(4):498–509. https://doi.org/10.1002/mds.26934.

    Article  PubMed  PubMed Central  Google Scholar 

  28. Ferguson D. An Australian study of telegraphists’ cramp. Br J Ind Med. 1971;28(3):280–5. https://doi.org/10.1136/oem.28.3.280.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  29. Chang FC, Frucht SJ. Motor and sensory dysfunction in musician’s dystonia. Curr Neuropharmacol. 2013;11(1):41–7. https://doi.org/10.2174/157015913804999531.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  30. Risch NJ, Bressman SB, deLeon D, Brin MF, Burke RE, Greene PE, et al. Segregation analysis of idiopathic torsion dystonia in Ashkenazi Jews suggests autosomal dominant inheritance. Am J Hum Genet. 1990;46(3):533–8.

    CAS  PubMed  PubMed Central  Google Scholar 

  31. Kramer PL, Heiman GA, Gasser T, Ozelius LJ, de Leon D, Brin MF, et al. The DYT1 gene on 9q34 is responsible for most cases of early limb-onset idiopathic torsion dystonia in non-Jews. Am J Hum Genet. 1994;55(3):468–75.

    CAS  PubMed  PubMed Central  Google Scholar 

  32. Zimprich A, Grabowski M, Asmus F, Naumann M, Berg D, Bertram M, et al. Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome. Nat Genet. 2001;29(1):66–9. https://doi.org/10.1038/ng709.

    Article  CAS  PubMed  Google Scholar 

  33. de Carvalho Aguiar P, Sweadner KJ, Penniston JT, Zaremba J, Liu L, Caton M, et al. Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism. Neuron. 2004;43(2):169–75. https://doi.org/10.1016/j.neuron.2004.06.028.

    Article  PubMed  Google Scholar 

  34. Kirke DN, Frucht SJ, Simonyan K. Alcohol responsiveness in laryngeal dystonia: a survey study. J Neurol. 2015;262(6):1548–56. https://doi.org/10.1007/s00415-015-7751-2.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  35. Greene P, Kang UJ, Fahn S. Spread of symptoms in idiopathic torsion dystonia. Mov Disord. 1995;10(2):143–52. https://doi.org/10.1002/mds.870100204.

    Article  CAS  PubMed  Google Scholar 

  36. Blitzer A, Brin MF, Simonyan K, Ozelius LJ, Frucht SJ. Phenomenology, genetics, and CNS network abnormalities in laryngeal dystonia: a 30-year experience. Laryngoscope. 2018;128(Suppl 1):S1–9. https://doi.org/10.1002/lary.27003.

    Article  PubMed  Google Scholar 

  37. Ramdhani RA, Frucht SJ. Adult-onset idiopathic focal lower extremity dystonia: a rare task-specific dystonia. Tremor Other Hyperkinet Mov (N Y). 2013;3 https://doi.org/10.7916/D8571BQX.

  38. Espay AJ, Lang AE, Erro R, Merola A, Fasano A, Berardelli A, et al. Essential pitfalls in “essential” tremor. Mov Disord. 2017;32(3):325–31. https://doi.org/10.1002/mds.26919.

    Article  PubMed  PubMed Central  Google Scholar 

  39. Pan L, Frucht S. The pseudodystonia: important pitfalls in the diagnosis of dystonia (P4.7-002). Neurology. 2019;92(15 Supplement):P4.7–002.

    Google Scholar 

  40. Merello M, Garcia H, Nogues M, Leiguarda R. Masticatory muscle spasm in a non-Japanese patient with Satoyoshi syndrome successfully treated with botulinum toxin. Mov Disord. 1994;9(1):104–5. https://doi.org/10.1002/mds.870090118.

    Article  CAS  PubMed  Google Scholar 

  41. Kinon MD, Nasser R, Nakhla J, Desai R, Moreno JR, Yassari R, et al. Atlantoaxial rotatory subluxation: a review for the pediatric emergency physician. Pediatr Emerg Care. 2016;32(10):710–6. https://doi.org/10.1097/PEC.0000000000000817.

    Article  PubMed  Google Scholar 

  42. Spennato P, Nicosia G, Rapana A, Cicala D, Donnianni T, Scala S, et al. Grisel syndrome following adenoidectomy: surgical management in a case with delayed diagnosis. World Neurosurg. 2015;84(5):1494 e7–12. https://doi.org/10.1016/j.wneu.2015.04.060.

    Article  Google Scholar 

  43. Rubin SE, Wagner RS. Ocular torticollis. Surv Ophthalmol. 1986;30(6):366–76.

    Article  CAS  Google Scholar 

  44. Fiorillo L, Robinson JL. Localized tetanus in a child. Ann Emerg Med. 1999;33(4):460–3.

    Article  CAS  Google Scholar 

  45. Jamora RD, Umapathi T, Tan LC. Finger flexion resembling focal dystonia in Isaacs’ syndrome. Parkinsonism Relat Disord. 2006;12(1):61–3. https://doi.org/10.1016/j.parkreldis.2005.08.003.

    Article  PubMed  Google Scholar 

  46. Brown P, Rothwell JC, Marsden CD. The stiff leg syndrome. J Neurol Neurosurg Psychiatry. 1997;62(1):31–7. https://doi.org/10.1136/jnnp.62.1.31.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  47. Sanguinetti AC, Etcheverry JL, Gatto EM. Adult-onset dystonic movement associated with gastroesophageal reflux disease: Sandifer syndrome. Mov Disord Clin Pract. 2014;1(4):391–2. https://doi.org/10.1002/mdc3.12091.

    Article  PubMed  PubMed Central  Google Scholar 

  48. Termsarasab P, Frucht SJ. Evaluation of embouchure dysfunction: experience of 139 patients at a single center. Laryngoscope. 2016;126(6):1327–33. https://doi.org/10.1002/lary.25723.

    Article  PubMed  Google Scholar 

  49. Frucht SJ. Embouchure dystonia: a video guide to diagnosis and evaluation. J Clin Mov Disord. 2016;3:10. https://doi.org/10.1186/s40734-016-0035-x.

    Article  PubMed  PubMed Central  Google Scholar 

  50. Ramos VF, Karp BI, Hallett M. Tricks in dystonia: ordering the complexity. J Neurol Neurosurg Psychiatry. 2014;85(9):987–93. https://doi.org/10.1136/jnnp-2013-306971.

    Article  PubMed  Google Scholar 

  51. Frucht SJ. “Closing the loop” in cervical dystonia: a new clinical phenomenon. Tremor Other Hyperkinet Mov (N Y). 2014;4 https://doi.org/10.7916/D8DZ071R.

  52. Frucht SJ. The definition of dystonia: current concepts and controversies. Mov Disord. 2013;28(7):884–8. https://doi.org/10.1002/mds.25529.

    Article  PubMed  Google Scholar 

  53. Ehrlich DJ, Frucht SJ. The phenomenology and treatment of idiopathic adult-onset truncal dystonia: a retrospective review. J Clin Mov Disord. 2016;3(1):15. https://doi.org/10.1186/s40734-016-0044-9.

    Article  PubMed  PubMed Central  Google Scholar 

  54. Simpson DM, Hallett M, Ashman EJ, Comella CL, Green MW, Gronseth GS, et al. Practice guideline update summary: botulinum neurotoxin for the treatment of blepharospasm, cervical dystonia, adult spasticity, and headache: report of the Guideline Development Subcommittee of the American Academy of Neurology. Neurology. 2016;86(19):1818–26. https://doi.org/10.1212/WNL.0000000000002560.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  55. Blitzer A, Brin MF, Stewart CF. Botulinum toxin management of spasmodic dysphonia (laryngeal dystonia): a 12-year experience in more than 900 patients. Laryngoscope. 1998;108(10):1435–41.

    Article  CAS  Google Scholar 

  56. Lungu C, Karp BI, Alter K, Zolbrod R, Hallett M. Long-term follow-up of botulinum toxin therapy for focal hand dystonia: outcome at 10 years or more. Mov Disord. 2011;26(4):750–3. https://doi.org/10.1002/mds.23504.

    Article  PubMed  PubMed Central  Google Scholar 

  57. Meyer E, Carss KJ, Rankin J, Nichols JM, Grozeva D, Joseph AP, et al. Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia. Nat Genet. 2017;49(2):223–37. https://doi.org/10.1038/ng.3740.

    Article  CAS  PubMed  Google Scholar 

  58. Vidailhet M, Jutras MF, Roze E, Grabli D. Deep brain stimulation for dystonia. Handb Clin Neurol. 2013;116:167–87. https://doi.org/10.1016/B978-0-444-53497-2.00014-0.

    Article  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Steven J. Frucht .

Electronic Supplementary Material

This chapter reviews the rich and varied phenomenology of dystonia and is divided into 17 segments: DYT dystonias (1, 3, 5, 6, 12, and 28); unknown primary dystonias; blepharospasm; lower cranial dystonia; Meige syndrome; embouchure dystonia; adductor spasmodic dysphonia; abductor spasmodic dysphonia; torticollis; musicians’ arm dystonia; writer’s cramp; other arm task-specific dystonias; lower extremity dystonia; truncal dystonia; secondary dystonias; pseudodystonia; and functional dystonia. Patients with DYT-11 (myoclonus-dystonia) are reviewed in Chap. 5. (MP4 6304296 kb)

Notes

Notes

Notes

Rights and permissions

Reprints and permissions

Copyright information

© 2020 Springer Nature Switzerland AG

About this chapter

Check for updates. Verify currency and authenticity via CrossMark

Cite this chapter

Frucht, S.J., Termsarasab, P. (2020). Phenomenology of Dystonia. In: Movement Disorders Phenomenology. Springer, Cham. https://doi.org/10.1007/978-3-030-36975-0_9

Download citation

  • DOI: https://doi.org/10.1007/978-3-030-36975-0_9

  • Published:

  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-030-36974-3

  • Online ISBN: 978-3-030-36975-0

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics