Cranial dystonia
https://doi.org/10.14412/2074-2711-2018-1-90-95
Abstract
Cranial dystonia is a common disease of the extrapyramidal nervous system. The clinical manifestations of dystonia are extremely variable; many of its forms are often undiagnosed. Dystonia is a sensorimotor disorder of the nervous system. Damage affects not only one structure, but also a network of the nodes interacting with each other in the somatosensory cortex and associative sensory and motor fields, which play a role in the integration of various sensory modalities coming from both outside the body and from the receptors within it. Botulinum toxin preparations show the highest efficacy in treating cranial dystonia. If their administration cannot achieve a positive result, oral drugs and surgical treatments should be used.
About the Author
V. A. Tolmacheva
I.M. Sechenov First Moscow State Medical University (Sechenov University), Ministry of Health of Russia
Russian Federation
Russian Federation
Department of Nervous System Diseases and Neurosurgery,
111, Rossolimo St., Moscow 119021
References
1. Williams L, McGovern E, Kimmich O, et al. Epidemiological, clinical and genetic aspects of adult onset isolated focal dystonia in Ireland. Eur J Neurol. 2017 Jan;24(1):73-81. doi: 10.1111/ene.13133. Epub 2016 Sep 19.
2. Defazio G, Abbruzzese G, Livrea P, Berardelli A. Epidimiology of primary dystonia. Lancet Neurol. 2004 Nov;3(11):673-8.
3. Asgeirsson H, Jakobsson F, Hjaltason H, et al. Prevalence study of primary dystonia in Iceland. Mov Disord. 2006 Mar;21(3):293-8.
4. Nutt JG, Muenter MD, Aronson A, et al. Epidemiology of focal and generalized dystonia in Rochester, Minnesota. Mov Disord. 1988; 3(3):188-94.
5. Fukuda H, Kusumi M, Nakashima K. Epidemiology of primary focal dystonias in the western area of Tottori Prefecture in Japan: comparison with prevalence evaluated in 1993. Mov Disord. 2006 Sep;21(9):1503-6.
6. Mü ller J, Kiechl S, Wenning GK, et al. The prevalence of primary dystonia in the general community. Neurology. 2002 Sep 24;59(6):941-3.
7. Molloy A, Williams L, Kimmich O, et al. Sun exposure is an environmental factor for the development of blepharospasm. J Neurol Neurosurg Psychiatry. 2016 Apr;87(4):420-4. doi: 10.1136/jnnp-2014-310266. Epub 2015 Apr 22.
8. Petrucci S, Valente EM. Genetic issues in the diagnosis of dystonias. Front Neurol. 2013 Apr 10; 4:34. doi: 10.3389/fneur.2013.00034. eCollection 2013.
9. Papantonio AM, Beghi E, Fogli D, et al. Prevalence of primary focal or segmental dystonia in adults in the district of Foggia, southern Italy: a service-based study. Neuroepidemiology. 2009;33(2):117-23. doi: 10.1159/000226124. Epub 2009 Jun 26.
10. Defazio G, Gigante AF, Abbruzzese G, et al. Tremor in primary adult-onset dystonia: prevalence and associated clinical features. J Neurol Neurosurg Psychiatry. 2013 Apr; 84(4):404-8. doi: 10.1136/jnnp-2012-303782. Epub 2012 Nov 10.
11. Sugawara M, Watanabe S, Toyoshima I. Prevalence of dystonia in Akita Prefecture in Northern Japan. Mov Disord. 2006 Jul;21(7): 1047-9.
12. Groen JL, Kallen MC, van de Warrenburg BP, et al. Phenotypes and genetic architecture of focal primary torsion dystonia. J Neurol Neurosurg Psychiatry. 2012 Oct;83(10):1006-11. doi: 10.1136/jnnp-2012-302729. Epub 2012 Jul 8.
13. Butler AG, Duffey PO, Hawthorne MR, Barnes MP. An epidemiologic survey of dystonia within the entire population of northeast England over the past nine years. Adv Neurol. 2004;94:95-9.
14. Soland VL, Bhatia KP, Marsden CD. Sex prevalence of focal dystonias. J Neurol Neurosurg Psychiatry. 1996 Feb;60(2):204-5.
15. Duffey PO, Butler AG, Hawthorne MR, Barnes MP. The epidemiology of the primary dystonias in the north of England. Adv Neurol. 1998;78:121-5.
16. Tolosa ES, Klawans HL. Meige’s disease. A clinical form of facial convulsion bilateral and medial. Arch Neurol. 1979 Oct;36(10):635-7.
17. Jankovic J, Orman J. Blepharospasm: demographic and clinical survey of 250 patients. Ann Ophthalmol. 1984 Apr;16(4):371-6.
18. LeDoux MS. Meige’s syndrome: what’s in a name? Parkinsonism Relat Disord. 2009 Aug;15(7): 483-9. doi: 10.1016/j.parkreldis.2009.04.006. Epub 2009 May 19.
19. O’Riordan S, Raymond D, Lynch T, et al. Age of onset as a factor in determining the phenotype of primary torsion dystonia. Neurology. 2004 Oct 26;63(8):1423-6.
20. Tolosa ES. Clinical features of Meige's disease (idiopathic orofacial dystonia): a report of 17 cases. Arch Neurol. 1981 Mar;38(3):147-51.
21. Marsden CD. Blepharospasm-oromandibular dystonia syndrome (Brueghel's syndrome). A variant of adult-onset torsion dystonia. J Neurol Neurosurg Psychiatry. 1976 Dec;39(12):1204-9.
22. Allam N, Frank JE, Pereira C, Tomaz C. Sustainet attention in cranial dystonia patients treated with botulinum toxin. Acta Neurol Scand. 2007 Sep;116(3):196-200.
23. Fabbrini G, Pantano P, Totaro P, et al. Diffusion tensor imaging in patients with primary cervical dystonia and in patients with blepharospasm. Eur J Neurol. 2008 Feb;15(2): 185-9. doi: 10.1111/j.1468-1331.2007.02034.x.
24. Hallett M. Blepharospasm: recent advances. Neurology. 2002 Nov 12;59(9):1306-12.
25. Tolosa E, Marti MJ. Blepharospasm-oromandibular dystonia syndrome (Meige's syndrome): clinical aspects. Adv Neurol. 1988; 49:73-84.
26. Peckham EL, Lopez G, Shamim EA, et al. Clinical features of patients with blepharospasm: a report of 240 patients. Eur J Neurol. 2011 Mar;18(3):382-6. doi: 10.1111/j.1468-1331.2010.03161.x.
27. Abbruzzese G, Berardelli A, Girlanda P, et al. Long-term assessment of the risk of spread in primary late-onset focal dystonia. J Neurol Neurosurg Psychiatry. 2008 Apr;79(4):392-6. Epub 2007 Jul 17.
28. Weiss EM, Hershey T, Karimi M, et al. Relative risk of spread of symptoms among the focal onset primary dystonias. Mov Disord. 2006 Aug;21(8):1175-81.
29. Defazio G, Berardelli A, Abbruzzese G, et al. Risk factors for spread of primary adult onset blepharospasm: a multicentre investigation of the Italian movement disorders study group. J Neurol Neurosurg Psychiatry. 1999 Nov;67(5):613-9.
30. Martino D, Berardelli A, Abbruzzese G, et al. Age at onset and symptom spread in primary adult-onset blepharospasm and cervical dystonia. Mov Disord. 2012 Sep 15;27(11):1447-50. doi: 10.1002/mds.25088. Epub 2012 Aug 13.
31. Svetel M, Pekmezovic T, Tomic A, et al. The spread of primary late-onset focal dystonia in a long-term follow up study, Clin. Neurol. Neurosurg. 132 (May 2015) 41–43.
32. Svetel M., Pekmezovic T., Jovic J., Ivanovic N., Dragasevic N., Maric J., Kostic V.S., Spread of primary dystonia in relation to initially affected region, J. Neurol. 254 (7) (Jul 2007) 879–883.
33. DeVeaugh-Geiss J., Clinical changes in tardive dyskinesia during long term follow up, in: Wolf M.E., Mosina A.D. (Eds.), Tardive Dyskinesia: Biological Mechanisms and Clinical Aspects, American Psychiatric Press, Washington, DC 1988, pp. 89–105.
34. Kimura T., Deshimaru M., Inukai K., Matsunaga T., Hisano T., Watanabe K., Miyakawa T., Schizophrenic mother and daughter with Meige's syndrome, Rinsho Scishin Igaku (Clin. Psychiatry Med.) 21 (1992) 1213–1220.
35. Jankovic J., Drug-induced and other orofacial-cervical dyskinesias, Ann. Intern. Med. 94 (1981) 788–793.
36. Mauriello J.A., Carbonaro P., Dhillon S., Leone T., Franklin M., Drug-associated facialdyskinesias—a study of 238 patients, J. Neuroophthalmol. 18 (2) (1998 Jun) 153–157
37. Jankovic J., Patel S.C., Blepharospasm associated with brainstem lesions, Neurology 33 (1983) 1237–1240.
38. Keane JR., Young JA. Blepharospasm with bilateral basal ganglia infarction, Arch. Neurol. 42 (12) (Dec 1, 1985) 1206–1208.
39. Sandyk R, Gillman MA. Blepharospasm associated with communicating hydrocephalus, Neurology 34 (1984) 1522–1523.
40. Lang AE, Sharpe JA. Blepharospasm associated with palatal myoclonus and communicating hydrocephalus, Neurology 34 (11) (Nov 1, 1984) 1522.
41. Jankovic J. Blepharospasm with basal ganglia lesions, Arch. Neurol. 43 (9) (Sep 1,1986) 866–868.
42. O'Rourke K, O'Riordan S, Gallagher J, Hutchinson M. Paroxysmal torticollis and blepharospasm following bilateral cerebellar infarction. J Neurol. 2006 Dec;253(12):1644-5.
43. Jankovic J, Ford J. Blepharospasm and orofacial-cervical dystonia clinical and pharmacological findings in 100 patients. Ann Neurol. 1983 Apr;13(4):402-11.
44. Machado A, Chien HF, Deguti MM, et al. Neurological manifestations in Wilson's disease: report of 119 cases. Mov Disord. 2006 Dec;21(12):2192-6.
45. Lou JS, Jankovic J. Essential tremor: clinical correlates in 350 patients. Neurology. 1991 Feb;41(2 ( Pt 1)):234-8.
46. Hedera P, Phibbs FT, Fang JY, et al. Clustering of dystonia in some pedigrees with autosomal dominant essential tremor suggests the existence of a distinct subtype of essential tremor. BMC Neurol. 2010 Jul 29;10:66. doi: 10.1186/1471-2377-10-66.
47. Martinelli P, Gabellini AS, Gulli MR Lugaresi E. Different clinical features of essential tremor: a 200-patient study. Acta Neurol Scand. 1987 Feb;75(2):106-11.
48. Koller WC, Busenbark K, Miner K. The relationship of essential tremor to other movement disorders: report on 678 patients. Essential Tremor Study Group. Ann Neurol. 1994 Jun;35(6):717-23.
49. Boesch SM, Wenning GK, Ransmayr G, Poewe W. Dystonia in multiple system atrophy. J Neurol Neurosurg Psychiatry. 2002 Mar;72(3): 300-3.
50. Louis ED, Hernandez N, Alcalay RN, et al. Prevalence and features of unreported dystonia in a family study of «pure» essential tremor. Parkinsonism Relat Disord. 2013 Mar;19(3): 359-62. doi: 10.1016/j.parkreldis.2012.09.015. Epub 2012 Oct 23.
51. Rana AQ, Kabir A, Dogu O, et al. Prevalence of blepharospasm and apraxia of eyelid opening in patients with parkinsonism, cervical dystonia and essential tremor. Eur Neurol. 2012;68(5):318-21. doi: 10.1159/ 000341621. Epub 2012 Oct 11.
52. Barclay CL, Lang AE. Dystonia in progressive supranuclear palsy. J Neurol Neurosurg Psychiatry. 1997 Apr;62(4):352-6.
53. Yoon WT, Chung EJ, Lee SH, et al. Clinical analysis of blepharospasm and apraxia of eyelid opening in patients with parkinsonism. J Clin Neurol. 2005 Oct;1(2):159-65. doi: 10.3988/jcn. 2005.1.2.159. Epub 2005 Oct 20.
54. Godeiro-Junior C, Felicio AC, Barsottini OG, et al. Clinical features of dystonia in atypical parkinsonism. Arq Neuropsiquiatr. 2008 Dec;66(4):800-4.
55. Tallon-Barranco A, Vazquez A, Javier Jimenez-Jimenez F, et al. Clinical features of essential tremor seen in neurology practice: a study of 357 patients. Parkinsonism Relat Disord. 1997 Dec;3(4):187-90.
56. Jankovic J, Beach J, Pandolfo M, Patel PI. Familial essential tremor in 4 kindreds. Prospects for genetic mapping. Arch Neurol. 1997 Mar;54(3):289-94.
57. Mark MH, Sage JI, Dickson DW. Meige's syndrome in the spectrum of Lewy body disease. Neurology. 1994 Aug;44(8):1432-6.
58. Micheli F, Scorticati M, Folgar S, Gatto E. Development of Parkinson’s Disease in Patients With Blepharospasm. Mov Disord. 2004 Sep; 19(9):1069-1072.
59. Soonawala N, Bhatia KP, Yeung JH, et al. Idiopathic blepharospasm does not lead to a parkinsonian syndrome: results of a questionnaire-based follow-up study. J Neurol. 1999 Apr;246(4):283-6.
60. Jankovic J. Medical treatment of dystonia. Mov Disord. 2013 Jun 15;28(7):1001-12. doi: 10.1002/mds.25552.
61. Jankovic J, Hallett M, editors. Therapy With Botulinum Toxin. New York: Marcel Dekker; 1994. 608 p.
62. Brin MF, Hallett M, Jankovic J. Scientific and Therapeutic Aspects of Botulinum Toxin. Philadelphia: Lippincott Williams & Wilkins; 2002. 507 p.
63. Jankovic J, Albanese A, Atassi MZ, et al. Botulinum Toxin. Therapeutic Clinical Practice and Science. Philadelphia: Saunders (Elsevier); 2009. 492 p.
64. Simpson DM, Blitzer A, Brashear A, et al. Assessment: Botulinum neurotoxin in the treatment of autonomic disorders and pain (an evidence-based review): Report of the Therapeutics and Technology Assessment Subcommittee of the American Academy of Neurology. Neurology. 2008 May 6;70(19):1699-706. doi: 10.1212/01.wnl.0000311389.26145.95.
65. Mehlan J, Brosig H, Schmitt O, et al. Intrastriatal injection of botulinum neurotoxinA is not cytotoxic in rat brain – a histological and stereological analysis. Brain Res. 2016 Jan 1;1630:18-24. doi: 10.1016/j.brainres.2015. 10.056. Epub 2015 Nov 10.
66. Restani L, Antonucci F, Gianfranceschi L, et al. Evidence for anterograde transport and transcytosis of botulinum neurotoxin A (BoNT/A). J Neurosci. 2011 Nov 2;31(44): 15650-9. doi: 10.1523/JNEUROSCI.2618-11.2011.
67. Mazzocchio R, Caleo M. More than at the neuromuscular synapse: actions of botulinum neurotoxin A in the central nervous system. Neuroscientist. 2015 Feb;21(1):44-61. doi: 10.1177/1073858414524633. Epub 2014 Feb 26.
68. Cai BB, Francis J, Brin MF, Broide RS. Botulinum neirotoxin type A-cleaved SNAP25 is confined to primary motor neurons and localized on the plasma membrane following intramuscular toxin injection. Neuroscience. 2017 Jun 3;352:155-169. doi: 10.1016/j.neuroscience.2017.03.049. Epub 2017 Apr 5.
69. Muta D, Goto S, Nishikawa S, et al. Bilateral pallidal stimulation for idiopathic segmental axial dystonia advanced from Meige syndrome refractory to bilateral thalamotomy. Mov Disord. 2001 Jul;16(4):774-7.
70. Capelle HH, Weigel R, Krauss JK. Bilateral pallidalstimulation for blepharospasm-oromandibular dystonia (Meige syndrome). Neurology. 2003 Jun 24;60(12):2017-8.
71. Speelman JD, Contarino MF, Schuurman PR, et al. Deep brain stimulation for dystonia: patient selection and outcomes. Eur J Neurol. 2010 Jul;17 Suppl 1:102-6. doi: 10.1111/j.1468-1331.2010.03060.x.
72. Andrews C, Aviles-Olmos I, Hariz M, Foltynie T. 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. doi: 10.1136/jnnp.2010.207993. Epub 2010 Sep 14.
73. Markun LC, Starr PA, Air EL, et al. Shorter disease duration correlates with improved longterm deep brain stimulation outcomes in youngonset DYT1 dystonia. Neurosurgery. 2012 Aug; 71(2):325-30. doi: 10.1227/NEU.0b013e 318258e21b.
74. Isaias IU, Volkmann J, Kupsch A, et al. Factors predicting protracted improvement after pallidal DBS for primary dystonia: the role of age and disease duration. J Neurol. 2011 Aug; 258(8):1469-76. doi: 10.1007/s00415-011-5961-9. Epub 2011 Mar 2.
75. Tagliati M, Krack P, Volkmann J, et al. Long-Term management of DBS in dystonia: response to stimulation, adverse events, battery changes, and special considerations. Mov Disord. 2011 Jun;26 Suppl 1:S54-62. doi: 10.1002/mds. 23535.
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For citations:
Tolmacheva VA. Cranial dystonia. Nevrologiya, neiropsikhiatriya, psikhosomatika = Neurology, Neuropsychiatry, Psychosomatics. 2018;10(1):90-95. (In Russ.) https://doi.org/10.14412/2074-2711-2018-1-90-95
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