Unusual Phenomenologies

  • Steven J. FruchtEmail author
  • Pichet Termsarasab


Unusual movement disorders present a challenge for the practicing clinician, both in recognition and management. This chapter reviews the phenomenology of five unusual movement disorders: tardive syndromes; peripheral movement disorders; paroxysmal movement disorders; stereotypies; and athetosis.


Tardive syndromes Peripheral movement disorders Paroxysmal movement disorders Stereotypies Athetosis 

Supplementary material

Video 14.1

Demonstration of five unusual hyperkinetic movement disorders: tardive syndromes; peripheral movement disorders; paroxysmal movement disorders; stereotypies; and athetosis (MP4 6118592 kb)


  1. 1.
    Lopez-Munoz F, Alamo C, Cuenca E, Shen WW, Clervoy P, Rubio G. History of the discovery and clinical introduction of chlorpromazine. Ann Clin Psychiatry. 2005;17(3):113–35.CrossRefGoogle Scholar
  2. 2.
    Ban TA. Fifty years chlorpromazine: a historical perspective. Neuropsychiatr Dis Treat. 2007;3(4):495–500.PubMedPubMedCentralGoogle Scholar
  3. 3.
    Laborit H, Huguenard P, Alluaume R. [A new vegetative stabilizer; 4560 R.P.]. Presse Med. 1952;60(10):206–8.Google Scholar
  4. 4.
    Winkelman NW Jr. Chlorpromazine in the treatment of neuropsychiatric disorders. J Am Med Assoc. 1954;155(1):18–21. Scholar
  5. 5.
    Schonecker M. [Paroxysmal dyskinesia as the effect of megaphen]. Nervenarzt. 1957;28(12):550–3.Google Scholar
  6. 6.
    Caroff SN, Ungvari GS, Cunningham Owens DG. Historical perspectives on tardive dyskinesia. J Neurol Sci. 2018;389:4–9. Scholar
  7. 7.
    Faurbye A, Rasch PJ, Petersen PB, Brandborg G, Pakkenberg H. Neurological symptoms in pharmacotherapy of psychoses. Acta Psychiatr Scand. 1964;40(1):10–27. Scholar
  8. 8.
    Frei K, Truong DD, Fahn S, Jankovic J, Hauser RA. The nosology of tardive syndromes. J Neurol Sci. 2018;389:10–6. Scholar
  9. 9.
    American Psychiatric Association. Diagnostic and statistical manual of mental disorders. 5th ed. Arlington: American Psychiatric Association; 2013.Google Scholar
  10. 10.
    Tenback DE, van Harten PN. Epidemiology and risk factors for (tardive) dyskinesia. Int Rev Neurobiol. 2011;98:211–30. Scholar
  11. 11.
    Burke RE, Kang UJ, Jankovic J, Miller LG, Fahn S. Tardive akathisia: an analysis of clinical features and response to open therapeutic trials. Mov Disord. 1989;4(2):157–75. Scholar
  12. 12.
    Bhidayasiri R, Fahn S, Weiner WJ, Gronseth GS, Sullivan KL, Zesiewicz TA, et al. Evidence-based guideline: treatment of tardive syndromes: report of the Guideline Development Subcommittee of the American Academy of Neurology. Neurology. 2013;81(5):463–9. Scholar
  13. 13.
    Achalia RM, Chaturvedi SK, Desai G, Rao GN, Prakash O. Prevalence and risk factors associated with tardive dyskinesia among Indian patients with schizophrenia. Asian J Psychiatr. 2014;9:31–5. Scholar
  14. 14.
    O’Brien A. Comparing the risk of tardive dyskinesia in older adults with first-generation and second-generation antipsychotics: a systematic review and meta-analysis. Int J Geriatr Psychiatry. 2016;31(7):683–93. Scholar
  15. 15.
    Bhidayasiri R, Jitkritsadakul O, Friedman JH, Fahn S. Updating the recommendations for treatment of tardive syndromes: a systematic review of new evidence and practical treatment algorithm. J Neurol Sci. 2018;389:67–75. Scholar
  16. 16.
    Tan EK, Jankovic J. Tardive and idiopathic oromandibular dystonia: a clinical comparison. J Neurol Neurosurg Psychiatry. 2000;68(2):186–90. Scholar
  17. 17.
    Bhidayasiri R, Boonyawairoj S. Spectrum of tardive syndromes: clinical recognition and management. Postgrad Med J. 2011;87(1024):132–41. Scholar
  18. 18.
    Kang UJ, Burke RE, Fahn S. Natural history and treatment of tardive dystonia. Mov Disord. 1986;1(3):193–208. Scholar
  19. 19.
    Macerollo A, Deuschl G. Deep brain stimulation for tardive syndromes: systematic review and meta-analysis. J Neurol Sci. 2018;389:55–60. Scholar
  20. 20.
    Mitchell SW. Injuries of nerves and their consequences. Philadelphia: J.P. Lippencott; 1872.CrossRefGoogle Scholar
  21. 21.
    Marion MH, Gledhill RF, Thompson PD. Spasms of amputation stumps: a report of 2 cases. Mov Disord. 1989;4(4):354–8. Scholar
  22. 22.
    Hancock H. Convulsive movements of the stump. Lancet. 1852;i:281–3.Google Scholar
  23. 23.
    Steiner JC, DeJesus PV, Mancall EL. Painful jumping amputation stumps: pathophysiology of a “sore circuit”. Trans Am Neurol Assoc. 1974;99:253–5.PubMedGoogle Scholar
  24. 24.
    Zadikoff C, Mailis-Gagnon A, Lang AE. A case of a psychogenic “jumpy stump”. J Neurol Neurosurg Psychiatry. 2006;77(9):1101. Scholar
  25. 25.
    Iliceto G, Thompson PD, Day BL, Rothwell JC, Lees AJ, Marsden CD. Diaphragmatic flutter, the moving umbilicus syndrome, and “belly dancer’s” dyskinesia. Mov Disord. 1990;5(1):15–22. Scholar
  26. 26.
    Walton D, Bonello M, Steiger M. Diaphragmatic flutter. Pract Neurol. 2018;18(3):224–6. Scholar
  27. 27.
    Larner AJ. Antony van Leeuwenhoek and the description of diaphragmatic flutter (respiratory myoclonus). Mov Disord. 2005;20(8):917–8. Scholar
  28. 28.
    Porter WB. Diaphragmatic flutter with symptoms of angina pectoris. JAMA. 1935;106:992–4.CrossRefGoogle Scholar
  29. 29.
    Spillane JD, Nathan PW, Kelly RE, Marsden CD. Painful legs and moving toes. Brain. 1971;94(3):541–56. Scholar
  30. 30.
    Verhagen WI, Horstink MW, Notermans SL. Painful arm and moving fingers. J Neurol Neurosurg Psychiatry. 1985;48(4):384–5. Scholar
  31. 31.
    Walters AS, Hening WA, Shah SK, Chokroverty S. Painless legs and moving toes: a syndrome related to painful legs and moving toes? Mov Disord. 1993;8(3):377–9. Scholar
  32. 32.
    Singer C, Papapetropoulos S. A case of painless arms/moving fingers responsive to botulinum toxin a injections. Parkinsonism Relat Disord. 2007;13(1):55–6. Scholar
  33. 33.
    Hassan A, Mateen FJ, Coon EA, Ahlskog JE. Painful legs and moving toes syndrome: a 76-patient case series. Arch Neurol. 2012;69(8):1032–8. Scholar
  34. 34.
    Popkirov S, Hoeritzauer I, Colvin L, Carson AJ, Stone J. Complex regional pain syndrome and functional neurological disorders - time for reconciliation. J Neurol Neurosurg Psychiatry. 2019;90(5):608–14. Scholar
  35. 35.
    Mount LA, Reback S. Familial Paroxysmal Choreoathetosis: preliminary report on a hitherto undescribed clinical syndrome. Arch Neurol Psychiatr. 1940;44(4):841–7. Scholar
  36. 36.
    Richards RN, Barnett HJ. Paroxysmal dystonic choreoathetosis. A family study and review of the literature. Neurology. 1968;18(5):461–9. Scholar
  37. 37.
    Kertesz A. Paroxysmal kinesigenic choreoathetosis. An entity within the paroxysmal choreoathetosis syndrome. Description of 10 cases, including 1 autopsied. Neurology. 1967;17(7):680–90. Scholar
  38. 38.
    Lance JW. Familial paroxysmal dystonic choreoathetosis and its differentiation from related syndromes. Ann Neurol. 1977;2(4):285–93. Scholar
  39. 39.
    Fahn S. The paroxysmal dyskinesias. In: Marsden CD, Fahn S, editors. Movement disorders, vol. 3. Oxford: Butterworth-Heinemann; 1994. p. 310–45.Google Scholar
  40. 40.
    Demirkiran M, Jankovic J. Paroxysmal dyskinesias: clinical features and classification. Ann Neurol. 1995;38(4):571–9. Scholar
  41. 41.
    Horner FH, Jackson LC. Familial paroxysmal choreoathetosis. In: Barbeau A, Brunette J-R, editors. Progress in neuro-genetics. Amsterdam: Excerpta Medica Foundation; 1969. p. 745–51.Google Scholar
  42. 42.
    Lugaresi E, Cirignotta F. Hypnogenic paroxysmal dystonia: epileptic seizure or a new syndrome? Sleep. 1981;4(2):129–38. Scholar
  43. 43.
    Tinuper P, Cerullo A, Cirignotta F, Cortelli P, Lugaresi E, Montagna P. Nocturnal paroxysmal dystonia with short-lasting attacks: three cases with evidence for an epileptic frontal lobe origin of seizures. Epilepsia. 1990;31(5):549–56. Scholar
  44. 44.
    Rainier S, Thomas D, Tokarz D, Ming L, Bui M, Plein E, et al. Myofibrillogenesis regulator 1 gene mutations cause paroxysmal dystonic choreoathetosis. Arch Neurol. 2004;61(7):1025–9. Scholar
  45. 45.
    Chen WJ, Lin Y, Xiong ZQ, Wei W, Ni W, Tan GH, et al. Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia. Nat Genet. 2011;43(12):1252–5. Scholar
  46. 46.
    Erro R, Sheerin UM, Bhatia KP. Paroxysmal dyskinesias revisited: a review of 500 genetically proven cases and a new classification. Mov Disord. 2014;29(9):1108–16. Scholar
  47. 47.
    Suls A, Dedeken P, Goffin K, Van Esch H, Dupont P, Cassiman D, et al. Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1. Brain. 2008;131(Pt 7):1831–44. Scholar
  48. 48.
    Weber YG, Storch A, Wuttke TV, Brockmann K, Kempfle J, Maljevic S, et al. GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak. J Clin Invest. 2008;118(6):2157–68. Scholar
  49. 49.
    Ciampi E, Uribe-San-Martin R, Godoy-Santin J, Cruz JP, Carcamo-Rodriguez C, Juri C. Secondary paroxysmal dyskinesia in multiple sclerosis: clinical-radiological features and treatment. Case report of seven patients. Mult Scler. 2017;23(13):1791–5. Scholar
  50. 50.
    Huang XJ, Wang T, Wang JL, Liu XL, Che XQ, Li J, et al. Paroxysmal kinesigenic dyskinesia: clinical and genetic analyses of 110 patients. Neurology. 2015;85(18):1546–53. Scholar
  51. 51.
    Jankovic J. Stereotypies. In: Marsden CD, Fahn S, editors. Movement disorders, vol. 3. Oxford: Butterworth-Heinemann; 1994. p. 503–17.Google Scholar
  52. 52.
    Muthugovindan D, Singer H. Motor stereotypy disorders. Curr Opin Neurol. 2009;22(2):131–6. Scholar
  53. 53.
    Rett A. [On a unusual brain atrophy syndrome in hyperammonemia in childhood]. Wien Med Wochenschr. 1966;116(37):723–6.Google Scholar
  54. 54.
    MacDonald R, Green G, Mansfield R, Geckeler A, Gardenier N, Anderson J, et al. Stereotypy in young children with autism and typically developing children. Res Dev Disabil. 2007;28(3):266–77. Scholar
  55. 55.
    Harris KM, Mahone EM, Singer HS. Nonautistic motor stereotypies: clinical features and longitudinal follow-up. Pediatr Neurol. 2008;38(4):267–72. Scholar
  56. 56.
    Lanska DJ. Early controversies over athetosis: I. Clinical features, differentiation from other movement disorders, associated conditions, and pathology. Tremor Other Hyperkinet Mov (N Y). 2013;3.
  57. 57.
    Hammond WA. Athetosis. Treatise on diseases of the nervous system. New York: D. Appleton & Co.; 1871. p. 654–62.Google Scholar
  58. 58.
    Hammond GM. Pathological findings in the original case of athetosis. J Nerv Ment Dis. 1890;17:555.Google Scholar
  59. 59.
    Hammond GM. Pathological findings in a case of athetosis. New York Med J. 1890:52–79.Google Scholar
  60. 60.
    Mitchell SW. Post-paralytic chorea. Am J Med Sci. 1874;68:342–52.CrossRefGoogle Scholar
  61. 61.
    Gowers WR. On “athetosis” and post-hemiplegic disorders of movement. Medical-Chirurgical Trans. 1876;59:271–326.CrossRefGoogle Scholar
  62. 62.
    Gowers WR. Disorders of movement after hemiplegia. In: A manual of diseases of the nervous system, vol. 2. London: J and A Churchill; 1888. p. 79–83.Google Scholar
  63. 63.
    Charcot JM. On athetosis. Lectures on diseases of the nervous system: delivered at La Salpêtrière, Vol. 2. Translated by G. Sigerson. London: New Sydenham Society; 1881. p. 390–4.Google Scholar
  64. 64.
    Hammond WA. Athetosis. Treatise on diseases of the nervous system. 6th ed. New York: D. Appleton & Co.; 1876. p. 315–25.Google Scholar
  65. 65.
    Sanger TD, Chen D, Fehlings DL, Hallett M, Lang AE, Mink JW, et al. Definition and classification of hyperkinetic movements in childhood. Mov Disord. 2010;25(11):1538–49. Scholar
  66. 66.
    Morris JG, Grattan-Smith P, Jankelowitz SK, Fung VS, Clouston PD, Hayes MW. Athetosis II: the syndrome of mild athetoid cerebral palsy. Mov Disord. 2002;17(6):1281–7. Scholar

Copyright information

© Springer Nature Switzerland AG 2020

Authors and Affiliations

  1. 1.Division of Movement DisordersNew York University Grossman School of Medicine, The Marlene and Paolo Fresco Institute for Parkinson’s and Movement Disorders, NYU Langone HealthNew YorkUSA
  2. 2.Division of Neurology, Faculty of MedicineRamathibodi Hospital, Mahidol UniversityBangkokThailand

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