Dystonias

Lohmann K, Klein C. Update on the genetics of dystonia. Curr Neurol Neurosci Rep. 2017 Mar;17(3):26. Abstract

Albanese A, Asmus F, Bhatia KP, et al. EFNS guidelines on diagnosis and treatment of primary dystonias. Eur J Neurol. 2011 Jan;18(1):5-18.Full text  Abstract

Simpson DM, Hallett M, Ashman EJ, 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 Apr 18;86(19):1818-26.Full text  Abstract

1. Albanese A, Bhatia K, Bressman SB, et al. Phenomenology and classification of dystonia: a consensus update. Mov Disord. 2013 Jun 15;28(7):863-73.Full text  Abstract

2. Frucht L, Perez DL, Callahan J, et al. Functional dystonia: Differentiation from primary dystonia and multidisciplinary treatments. Front Neurol. 2021 Feb 4;11:605262.Full text  Abstract

3. Tarsy D, Simon DK. Dystonia. N Engl J Med. 2006 Aug 24;355(8):818-29. Abstract

4. Defazio G, Abbruzzese G, Livrea P, et al. Epidemiology of primary dystonia. Lancet Neurol. 2004 Nov;3(11):673-8. Abstract

5. Liu X, Luo X, Hu W. Studies on the epidemiology and etiology of moldy sugarcane poisoning in China. Biomed Environ Sci. 1992 Jun;5(2):161-77. Abstract

6. Muller J, Kiechl S, Wenning GK, et al. The prevalence of primary dystonia in the general community. Neurology. 2002 Sep 24;59(6):941-3. Abstract

7. Nutt JG, Muenter MD, Aronson A, et al. Epidemiology of focal and generalized dystonia in Rochester, Minnesota. Mov Disord. 1988;3(3):188-94. Abstract

8. Steeves TD, Day L, Dykeman J, et al. The prevalence of primary dystonia: a systematic review and meta-analysis. Mov Disord. 2012 Dec;27(14):1789-96. Abstract

9. Medina A, Nilles C, Martino D, et al. The prevalence of idiopathic or inherited isolated dystonia: A systematic review and meta-analysis. Mov Disord Clin Pract. 2022 Oct;9(7):860-8.Full text  Abstract

10. Defazio G. The epidemiology of primary dystonia: current evidence and perspectives. Eur J Neurol. 2010 Jul;17(Suppl 1):9-14. Abstract

11. Epidemiological Study of Dystonia in Europe (ESDE) Collaborative Group. A prevalence study of primary dystonia in eight European countries. J Neurol. 2000 Oct;247(10):787-92. Abstract

12. Albanese A, Di Giovanni M, Lalli S. Dystonia: diagnosis and management. Eur J Neurol. 2019 Jan;26(1):5-17. Abstract

13. Lohmann K, Klein C. Update on the genetics of dystonia. Curr Neurol Neurosci Rep. 2017 Mar;17(3):26. Abstract

14. Bressman SB, Sabatti C, Raymond D, et al. The DYT1 phenotype and guidelines for diagnostic testing. Neurology. 2000 May 9;54(9):1746-52. Abstract

15. Fuchs T, Gavarini S, Saunders-Pullman R, et al. Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia. Nat Genet. 2009 Mar;41(3):286-8. Abstract

16. Segawa M, Nomura Y, Nishiyama N. Autosomal dominant guanosine triphosphate cyclohydrolase I deficiency (Segawa disease). Ann Neurol. 2003;54(Suppl 6):S32-45. Abstract

17. Zirn B, Steinberger D, Troidl C, et al. Frequency of GCH1 deletions in Dopa-responsive dystonia. J Neurol Neurosurg Psychiatry. 2008 Feb;79(2):183-6. Abstract

18. Schrag A, Trimble M, Quinn N, et al. The syndrome of fixed dystonia: an evaluation of 103 patients. Brain. 2004 Oct;127(Pt 10):2360-72.Full text  Abstract

19. Jankovic J. Can peripheral trauma induce dystonia and other movement disorders? Yes! Mov Disord. 2001 Jan;16(1):7-12. Abstract

20. van Hilten JJ, Geraedts EJ, Marinus J. Peripheral trauma and movement disorders. Parkinsonism Relat Disord. 2007;13 Suppl 3:S395-9. Abstract

21. Weiner WJ. Can peripheral trauma induce dystonia? No! Mov Disord. 2001 Jan;16(1):13-22. Abstract

22. Albanese A. Dystonia: clinical approach. Parkinsonism Relat Disord. 2007;13 Suppl 3:S356-61. Abstract

23. Breakefield XO, Blood AJ, Li Y, et al. The pathophysiological basis of dystonias. Nat Rev Neurosci. 2008 Mar;9(3):222-34. Abstract

24. Jankovic J. Dystonia: medical therapy and botulinum toxin. Adv Neurol. 2004;94:275-86. Abstract

25. Ozelius LJ. Update on the genetics of primary torsion dystonia loci DYT6, DYT7, and DYT13 and the dystonia-plus locus DYT12. Adv Neurol. 2004;94:109-12. Abstract

26. Latorre A, Bhatia KP. Treatment of paroxysmal dyskinesia. Neurol Clin. 2020 May;38(2):433-47. Abstract

27. Jinnah HA, Hess EJ. Evolving concepts in the pathogenesis of dystonia. Parkinsonism Relat Disord. 2018 Jan;46 Suppl 1:S62-5.Full text  Abstract

28. Simonyan K. Neuroimaging applications in dystonia. Int Rev Neurobiol. 2018;143:1-30.Full text  Abstract

29. Hallett M. Dystonia: abnormal movements result from loss of inhibition. Adv Neurol. 2004;94:1-9. Abstract

30. Armstrong M, Daly AK, Blennerhassett R, et al. Antipsychotic drug-induced movement disorders in schizophrenics in relation to CYP2D6 genotype. Br J Psychiatry. 1997 Jan;170:23-6. Abstract

31. Dressler D, Benecke R. Diagnosis and management of acute movement disorders. J Neurol. 2005 Nov;252(11):1299-306. Abstract

32. Rodnitzky RL. Drug-induced movement disorders in children. Semin Pediatr Neurol. 2003 Mar;10(1):80-7. Abstract

33. Laihinen A, Halsband U. PET imaging of the basal ganglia. J Physiol Paris. 2006 Jun;99(4-6):406-13. Abstract

34. Toma K, Nakai T. Functional MRI in human motor control studies and clinical applications. Magn Reson Med Sci. 2002 Jul 1;1(2):109-20. Abstract

35. Greene P, Kang UJ, Fahn S. Spread of symptoms in idiopathic torsion dystonia. Mov Disord. 1995 Mar;10(2):143-52. Abstract

36. Bonanni L, Thomas A, Varanese S, et al. Botulinum toxin treatment of lateral axial dystonia in Parkinsonism. Mov Disord. 2007 Oct 31;22(14):2097-103. Abstract

37. Sadnicka A, Meppelink AM, Kalinowski A, et al. Dystonia. BMJ. 2022 Apr 11;377:e062659.Full text  Abstract

38. Bragg DC, Sharma N. Update on treatments for dystonia. Curr Neurol Neurosci Rep. 2014 Jun;14(6):454.Full text  Abstract

39. Albanese A, Asmus F, Bhatia KP, et al. EFNS guidelines on diagnosis and treatment of primary dystonias. Eur J Neurol. 2011 Jan;18(1):5-18.Full text  Abstract

40. van Egmond ME, Kuiper A, Eggink H, et al. Dystonia in children and adolescents: a systematic review and a new diagnostic algorithm. J Neurol Neurosurg Psychiatry. 2015 Jul;86(7):774-81. Abstract

41. Jinnah HA, Factor SA. Diagnosis and treatment of dystonia. Neurol Clin. 2015;33:77-100.Full text  Abstract

42. Greene PE, Frucht SJ. Tardive and neuroleptic-induced emergencies. In: Frucht SJ, Fahn S, eds. Movement disorder emergencies. Totowa, NJ: Humana Press; 2005:117-22.

43. Burke RE, Fahn S, Marsden CD, et al. Validity and reliability of a rating scale for the primary torsion dystonias. Neurology. 1985 Jan;35(1):73-7. Abstract

44. Consky ES, Lang AE. Clinical assessments of patients with cervical dystonia. In: Jankovic J, Hallett M, eds. Therapy with botulinum toxin. New York, NY: Marcel Dekker, Inc.; 1994:211-37.

45. Queensland Ambulance Service. Medical/acute dystonic reaction. Apr 2016 [internet publication].Full text

46. Nygaard TG, Marsden CD, Fahn S. Dopa-responsive dystonia: long-term treatment response and prognosis. Neurology. 1991 Feb;41(2 ( Pt 1)):174-81. Abstract

47. Burke RE, Fahn S, Marsden CD. Torsion dystonia: a double-blind, prospective trial of high-dosage trihexyphenidyl. Neurology. 1986 Feb;36(2):160-4. Abstract

48. Bhidayasiri R, Tarsy D. Treatment of dystonia. Exp Rev Neurotherap. 2006 Jun;6(6):863-86. Abstract

49. Greene P. Baclofen in the treatment of dystonia. Clin Neuropharmacol. 1992 Aug;15(4):276-88. Abstract

50. Hainque E, Vidailhet M, Cozic N, et al. A randomized, controlled, double-blind, crossover trial of zonisamide in myoclonus-dystonia. Neurology. 2016 May 3;86(18):1729-35. Abstract

51. Roubertie A, Mariani LL, Fernandez-Alvarez E, et al. Treatment for dystonia in childhood. Eur J Neurol. 2012 Oct;19(10):1292-9. Abstract

52. Fehlings D, Brown L, Harvey A, et al. Pharmacological and neurosurgical interventions for managing dystonia in cerebral palsy: a systematic review. Dev Med Child Neurol. 2018 Apr;60(4):356-66.Full text  Abstract

53. National Institute for Health Care and Excellence (UK). Cerebral palsy in adults. Jan 2019 [internet publication].Full text

54. Harvey AR, Baker LB, Reddihough DS, et al. Trihexyphenidyl for dystonia in cerebral palsy. Cochrane Database Syst Rev. 2018 May 15;5(5):CD012430.Full text  Abstract

55. Zoons E, Dijkgraaf MG, Dijk JM, et al. Botulinum toxin as treatment for focal dystonia: a systematic review of the pharmaco-therapeutic and pharmaco-economic value. J Neurol. 2012 Dec;259(12):2519-26.Full text  Abstract

56. Duarte GS, Rodrigues FB, Marques RE, et al. Botulinum toxin type A therapy for blepharospasm. Cochrane Database Syst Rev. 2020 Nov 19;11(11):CD004900.Full text  Abstract

57. Charles D, Brashear A, Hauser RA, et al. Efficacy, tolerability, and immunogenicity of onabotulinumtoxina in a randomized, double-blind, placebo-controlled trial for cervical dystonia. Clinic Neuropharmacol. 2012 Sep-Oct;35(5):208-14. Abstract

58. Colosimo C, Tiple D, Berardelli A. Efficacy and safety of long-term botulinum toxin treatment in craniocervical dystonia: a systematic review. Neurotox Res. 2012 Nov;22(4):265-73. Abstract

59. Simpson DM, Hallett M, Ashman EJ, 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 Apr 18;86(19):1818-26.Full text  Abstract

60. Rodrigues FB, Duarte GS, Marques RE, et al. Botulinum toxin type A therapy for cervical dystonia. Cochrane Database Syst Rev. 2020 Nov 12;11(11):CD003633.Full text  Abstract

61. Dressler D, Altavista MC, Altenmueller E, et al. Consensus guidelines for botulinum toxin therapy: general algorithms and dosing tables for dystonia and spasticity. J Neural Transm (Vienna). 2021 Mar;128(3):321-35.Full text  Abstract

62. Delnooz CC, Horstink MW, Tijssen MA, et al. Paramedical treatment in primary dystonia: a systematic review. Mov Disord. 2009 Nov 15;24(15):2187-98. Abstract

63. Rodrigues FB, Duarte GS, Prescott D, et al. Deep brain stimulation for dystonia. Cochrane Database Syst Rev. 2019 Jan 10;1(1):CD012405.Full text  Abstract

64. Laurencin C, Montaut S, Vial C, et al. Toe dystonia in Parkinson's disease: Impact of subthalamic nucleus deep brain stimulation. J Neurol Sci. 2018 Sep 15;392:65-8. Abstract

65. Isaias IU, Alterman RL, Tagliati M. Outcome predictors of pallidal stimulation in patients with primary dystonia: the role of disease duration. Brain. 2008 Jul;131(Pt 7):1895-902.Full text  Abstract

66. Krauss JK, Loher TJ, Weigel R, et al. Chronic stimulation of the globus pallidus internus for treatment of non-dYT1 generalized dystonia and choreoathetosis: 2-year follow up. J Neurosurg. 2003 Apr;98(4):785-92. Abstract

67. Starr PA, Turner RS, Rau G, et al. Microelectrode-guided implantation of deep brain stimulators into the globus pallidus internus for dystonia: techniques, electrode locations, and outcomes. J Neurosurg. 2006 Apr;104(4):488-501. Abstract

68. Andrews C, Aviles-Olmos I, Hariz M, et al. Which patients with dystonia benefit from deep brain stimulation? A metaregression of individual patient outcomes. J Neurol Neurosurg Psychiatry. 2010 Dec;81(12):1383-9. Abstract

69. Bronte-Stewart H, Taira T, Valldeoriola F, et al. Inclusion and exclusion criteria for DBS in dystonia. Mov Disord. 2011 Jun;26 Suppl 1:S5-16. Abstract

70. DiFrancesco MF, Halpern CH, Hurtig HH, et al. Pediatric indications for deep brain stimulation. Childs Nerv Syst. 2012 Oct;28(10):1701-14. Abstract

71. Jankovic J. Treatment of hyperkinetic movement disorders with tetrabenazine: a double-blind crossover study. Ann Neurol. 1982 Jan;11(1):41-7. Abstract

72. Paleacu D, Giladi N, Moore O, et al. Tetrabenazine treatment in movement disorders. Clin Neuropharmacol. 2004 Sep-Oct;27(5):230-3. Abstract

73. Fernandez HH, Factor SA, Hauser RA, et al. Randomized controlled trial of deutetrabenazine for tardive dyskinesia: The ARM-TD study. Neurology. 2017 Apr 26;88(21):2003-10.Full text  Abstract

74. Touma KT, Scarff JR. Valbenazine and deutetrabenazine for tardive dyskinesia. Innov Clin Neurosci. 2018 Jun 1;15(5-6):13-6. Abstract

75. Chen JJ. Tetrabenazine for the treatment of hyperkinetic movement disorders: a review of the literature. Clinical Therapeutics. 2012 Jul;34(7):1487-504. Abstract

76. Chawda SJ, Münchau A, Johnson D, et al. Pattern of premature degenerative changes of the cervical spine in patients with spasmodic torticollis and the impact on the outcome of selective peripheral denervation. J Neurol Neurosurg Psychiatry. 2000 Apr;68(4):465-71.Full text  Abstract

77. Sanger TD. Use of surface electromyography (EMG) in the diagnosis of childhood hypertonia: a pilot study. J Child Neurol. 2008 Jun;23(6):644-8. Abstract

78. Jankovic J. Treatment of dystonia. Lancet Neurol. 2006 Oct;5(10):864-72. Abstract

79. Fabbri M, Leodori G, Fernandes RM, et al. Neutralizing antibody and botulinum toxin therapy: A systematic review and meta-analysis. Neurotox Res. 2016 Jan;29(1):105-17. Abstract

80. Brin MF, Comella C, Jankovic J. Dystonia: etiology, clinical features, and treatment. Philadelphia, PA: Lippincott Williams & Williams; 2004:45-9.

81. Goff DC, Arana GW, Greenblatt DJ, et al. The effect of benztropine on haloperidol-induced dystonia, clinical efficacy and pharmacokinetics: a prospective, double-blind trial. J Clin Psychopharmacol. 1991 Apr;11(2):106-12. Abstract