Dystonia: A Leading Neurological Movement Disorder
DOI:
https://doi.org/10.6000/2292-2598.2018.06.03.1Keywords:
Dystonia, Movement disorder, Intellectual disability, Antipsychotic drugs, Oral medications.Abstract
Dystonia is the third leading movement disorder arising mainly from the damage of basal ganglia or other parts of the brain that control movements. The objective of this review is to represent the detailed profile of dystonia. A computerized literature review was conducted in authentic scientific databases including PubMed, Google Scholar, Scopus, Science Direct and National Institutes of Health (NIH) etc. Terms searched included dystonia, risk factors, etiologies, clinical features, classification, pathology, guidelines, treatment strategies, primary and secondary dystonia. Initially, 97 articles and 9 books were extracted but finally, 64 articles and 7 books were used. After analysis, we found that causes of dystonia could be acquired or inherited and dystonia can be classified based on age at onset, etiology, and distribution of the affected body parts. The risk factors of this heterogeneous disorder could be trauma, thyroid disorder, hypertension, life habits, occupation, use of drugs and genetics. A significant number of articles were found which signify the ability of brainstem and cerebellar pathology to trigger the symptoms of dystonia. Since antipsychotic drugs are the most commonly prescribed among the people with intellectual disability (ID), therefore they possess a greater risk to experience antipsychotic drugs-induced movement side effects including acute dystonia, parkinsonism, tardive dyskinesia, and akathisia. Depending on various manifestations and causes, there are several treatment options including oral medications, intramuscular injection of botulinum toxin, neurosurgical procedures and occupational therapy.
References
Aminoff MJ, Greenberg DA, Simon RP. Clinical Neurology. Mc Graw Hill Education, New York, United States; 2015.
Pavese N. Dystonia: Hopes for a better diagnosis and a treatment with long-lasting effect. Brain 2013; 136:694-695. https://doi.org/10.1093/brain/awt028
Ropper AH, Samuels MA and Klein JP. Adams and Victor’s: Principles of Neurology. Mc Graw Hill Education, New York, United States; 2014.
Wang L, Hu X, Liu C, Wu Y, Wang C. et al. Botulinum Toxin clinic-based epidemiologic survey of adults with primary dystonia in East China. J Mov Disord 2012; 5: 9-13. https://doi.org/10.14802/jmd.12003
Steeves TD, Day L, Dykeman J, Jette N, Pringsheim T. The prevalence of primary dystonia: A systematic review and meta-analysis. Mov Disord 2012; 27: 1789-1796. https://doi.org/10.1002/mds.25244
Fahn S. Dystonia. In: Louis ED, S. A. Mayer, and L.P. Rowland, (Eds.) Merritt’s Neurology. Lippincott Williams & Wilkins; 2015.
Dolhun BYR. Dystonia and Parkinson’s Disease. Practical Neurology 2015; 43-46.
Olanow CW, Schapira AHV. Parkinson's disease and other extrapyramidal movement disorders. In: Hauser, S.L., (Eds.). Harrison’s Neurology in Clinical Medicine. New York, United States: Mc Graw Hill Education; 2013.
Creighton FX, Hapner E, Klein A, Rosen A, Jinnah HA, Johns MM. Diagnostic delays in spasmodic dysphonia: A call for clinician education. J Voice 2015; 29: 592-594. https://doi.org/10.1016/j.jvoice.2013.10.022
Tiderington E, Goodman EM, Rosen AR, Hapner ER, Jonhs MMIII et al. How long does it take to diagnose cervical dystonia? J Neurol Sci 2013; 335. https://doi.org/10.1016/j.jns.2013.08.028
Macerollo A, Superbo M, Gigante AF, Livrea P, Defazio G. Diagnostic delay in adult-onset dystonia: Data from an Italian movement disorder center. J Clin Neurosci 2015; 22: 608-610. https://doi.org/10.1016/j.jocn.2014.09.014
Jinnah HA, Teller JK, Galpern WR. Recent developments in dystonia. Curr Opin Neurol 2015; 28: 400-405. https://doi.org/10.1097/WCO.0000000000000213
Charlesworth G, Bhatia KP, Wood NW. The genetics of dys-tonia: New twists in an old tale. Brain 2013; 136: 2017-2037. https://doi.org/10.1093/brain/awt138
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: 5-18. https://doi.org/10.1111/j.1468-1331.2010.03042.x
Tanabe LM, Kim CE, Alagem N, Dauer WT. Primary dystonia : Molecules and mechanisms. Nat Rev Neurol 2009; 5: 598-609. https://doi.org/10.1038/nrneurol.2009.160
Berardelli A, Rothwell JC, Hallett M, Thompson PD, Manfredi M, Marsden CD. The pathophysiology of primary dystonia. Brain 1998; 121: 1195-1212. https://doi.org/10.1093/brain/121.7.1195
Phukan J, Albanese A, Gasser T, Warner T, Campus RF, Besta NC, Cattolica U. Primary dystonia and dystonia-plus syndromes : Clinical characteristics, diagnosis, and pathogenesis. The Lancet Neurol 2011; 10: 1074-1085. https://doi.org/10.1016/S1474-4422(11)70232-0
Casper C, Kalliolia E, Warner TT. Recent advances in the molecular pathogenesis of dystonia-plus syndromes and heredodegenerative dystonias. Curr Neuropharmacol 2013; 11: 30-40.
Nemeth AH. The genetics of primary dystonias and related disorders. Brain 2002; 125: 695-721. https://doi.org/10.1093/brain/awf090
Charlesworth G, Bhatia K.P. Primary and secondary dystonic syndromes: An update. Curr Opin Neurol 2013; 26: 406-412. https://doi.org/10.1097/WCO.0b013e3283633696
Chuang C, Fahn S and Frucht S. J. The natural history and treatment of acquired hemidystonia: Report of 33 cases and review of the literature. J Neurol Neurosurg Psychiatry 2002; 72: 59-67. https://doi.org/10.1136/jnnp.72.1.59
Lee WT. Disorders of amino acid metabolism associated with epilepsy. Brain and Development 2011; 33: 745-752. https://doi.org/10.1016/j.braindev.2011.06.014
Cloud LJ, Jinnah H.A. Treatment strategies for dystonia. Expert Opin Pharmacother 2010; 11: 5-15. https://doi.org/10.1517/14656560903426171
Standaert DG. Update on the pathology of dystonia. Neurobiol Dis 2011; 42(2): 148-51. https://doi.org/10.1016/j.nbd.2011.01.012
Kaji R, Bhatia K, Graybiel AM. Pathogenesis of dystonia: is it of cerebellar or basal ganglia origin? J Neurol Neurosurg Psychiatry 2018; 89(5): 488-92. https://doi.org/10.1136/jnnp-2017-316250
Berardelli A, Rothwell JC, Hallett M, Thompson PD, Manfredi M, Marsden CD. The pathophysiology of primary dystonia. Brain 1998; 121( Pt 7): 1195-212. https://doi.org/10.1093/brain/121.7.1195
Bressman SB, Raymond D, Fuchs T, Heiman GA, Ozelius LJ, Saunders-Pullman R. Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study. Lancet Neurol 2009; 8(5): 441-6. https://doi.org/10.1016/S1474-4422(09)70081-X
Phukan J, Albanese A, Gasser T, Warner T. Primary dys-tonia and dystonia-plus syndromes: clinical characteristics, diagnosis, and pathogenesis. Lancet Neurol 2011; 10(12): 1074-85. https://doi.org/10.1016/S1474-4422(11)70232-0
Casper C, Kalliolia E, Warner TT. Recent advances in the molecular pathogenesis of dystonia-plus syndromes and heredodegenerative dystonias. Curr Neuropharmacol 2013; 11(1): 30-40.
Le Ber I, Clot F, Vercueil L, Camuzat A, Viemont M, Benamar N, et al. Predominant dystonia with marked cerebellar atrophy: A rare phenotype in familial dystonia. Neurology 2006; 67(10): 1769-73. https://doi.org/10.1212/01.wnl.0000244484.60489.50
LeDoux MS, Brady KA. Secondary cervical dystonia associated with structural lesions of the central nervous system. Mov Disord 2003; 18(1): 60-9. https://doi.org/10.1002/mds.10301
Sheehan R, Horsfall L, Strydom A, Osborn D, Walters K, Hassiotis A. Movement side effects of antipsychotic drugs in adults with and without intellectual disability: UK population-based cohort study. BMJ Open 2017; 7(8): e017406. https://doi.org/10.1136/bmjopen-2017-017406
Cooper S-A, Smiley E, Morrison J, Williamson A, Allan L. Mental ill-health in adults with intellectual disabilities: prevalence and associated factors. Br J Psychiatry 2007; 190(01): 27-35. https://doi.org/10.1192/bjp.bp.106.022483
Marsden CD, Jenner P. The pathophysiology of extrapyramidal side-effects of neuroleptic drugs. Psychol Med 1980; 10: 55-72. https://doi.org/10.1017/S003329170003960X
Arnold LE. Clinical pharmacological issues in treating psychiatric disorders of patients with mental retardation. Ann Clin Psychiatry 1993; 5: 189-97. https://doi.org/10.3109/10401239309148982
Matson JL, Mahan S. Antipsychotic drug side effects for persons with intellectual disability. Res Dev Disabil 2010; 31(6): 1570-6. https://doi.org/10.1016/j.ridd.2010.05.005
Dystonia Medical Research Foundation. Investigators Discover Mutations in KMT2B Cause Complex Childhood Dystonia | Dystonia Medical Research Foundation | DMRF [Internet]. [cited 2018 Sep 1]. Available from: https://www.dystonia-foundation.org/site/news/30096
Zech M, Boesch S, Maier EM, Borggraefe I, Vill K, Laccone F, et al. Haploinsufficiency of KMT2B , Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized Dystonia. Am J Hum Genet 2016; 99(6): 1377-87. https://doi.org/10.1016/j.ajhg.2016.10.010
Abela L, Kurian MA. KMT2B-Related Dystonia. GeneReviews® 1993 [cited 2018 Sep 1]. Available from: http://www.ncbi.nlm.nih.gov/pubmed/29697234
Bruce KD, Zsombok A, Eckel RH. Lipid processing in the brain: A key regulator of systemic metabolism. Front. Endocrinol 2017; 8: 1-11. https://doi.org/10.3389/fendo.2017.00060
Deligtisch A, Ford B, Geyer H, Bressman S. B. Movement disorders. In: Burst JCM, (Eds.). Current Diagnosis & Treatment Neurology. New York, United States: Mc Graw Hill Education, 2012.
Kim M. Pathogenic polyglutamine expansion length correlates with polarity of the flanking sequences. Mol Neurodegener 2014; 9: 45. https://doi.org/10.1186/1750-1326-9-45
Janavs JL, Aminoff MJ. Dystonia and chorea in acquired systemic disorders. Journal of Neurol Neurosur Psychiatry 1998; 65: 436-445. https://doi.org/10.1136/jnnp.65.4.436
van Harten PN, Hoek HW, Kahn RS. Acute dystonia induced by drug treatment. BMJ 1999; 319: 623-626. https://doi.org/10.1136/bmj.319.7210.623
Park J. Movement Disorders Following Cerebrovascular Lesion in the Basal Ganglia Circuit. J Mov Disord 2016; 9: 71-79. https://doi.org/10.14802/jmd.16005
Albanese A. The clinical expression of primary dystonia. J Neurol 2003; 250: 1145-1151. https://doi.org/10.1007/s00415-003-0236-8
Defazio G, Berardelli A, Hallett M. Do primary adult-onset focal dystonias share aetiological factors? Brain 2007; 130:1183-1193. https://doi.org/10.1093/brain/awl355
Quartarone A, Rizzo V, Morgante F. Clinical features of dystonia : A pathophysiological revisitation. Curr Opin Neurol 2008; 21: 484-90. https://doi.org/10.1097/WCO.0b013e328307bf07
Albanese A. How many dystonias? Clinical evidence. Front Neurol 2017; 8. https://doi.org/10.3389/fneur.2017.00018
Termsarasab P, Frucht SJ. Dystonic storm: A practical clinical and video review. Journal of Clinical Movement Disorder, 2017; 4: 10. https://doi.org/10.1186/s40734-017-0057-z
Warner TT, Bressman S. B. Clinical dsiagnosis and management of dystonia. United Kingdom: Informa healthcare, 2007.
Defazio G, Berardelli A, Abbruzzese G, Lapore V, Coviello V. et al. Possible risk factors for primary adult onset dystonia: A case-control investigation by the Italian movement disorders study group. J Neurol Neurosur Psychiatry 1998; 164: 25-32. https://doi.org/10.1136/jnnp.64.1.25
Roze E, Soumaré A, Pironneau I, Sangla S, Cochen de Cock V. et al. Case-control study of writer’s cramp. Brain 2009; 132: 756-764. https://doi.org/10.1093/brain/awn363
Kurian MA, Jungbluth H. Genetic disorders of thyroid metabolism and brain development. Dev Med Child Neurol 2014; 56: 627-634. https://doi.org/10.1111/dmcn.12445
Stasiolek M. Neurological symptoms and signs in thyroid disease. Thyroid Research 2015; 8: A25. https://doi.org/10.1186/1756-6614-8-S1-A25
Ga̧secki D, Kwarciany M, Nyka W, Narkiewicz K. Hypertension, brain damage and cognitive decline. Curr Hypertens Rep 2013; 15: 547-558. https://doi.org/10.1007/s11906-013-0398-4
Hajjar I, Zhao P, Alsop D, Novak V. Hypertension and cerebral vasoreactivity: A continuous arterial spin labeling MRI study. Hypertension 2010; 56: 859-864. https://doi.org/10.1161/HYPERTENSIONAHA.110.160002
Newman JR, Boyle RS, O’Sullivan JD, Silburn PA, Mellick GD. Risk factors for idiopathic dystonia in Queensland, Australia. J Clin Neurosci 2014; 21: 2145-2149. https://doi.org/10.1016/j.jocn.2014.03.032
Defazio G, Abbruzzese G, Aniello MS, Bloise M, Crisci C, Eleopra R. et al. Environmental risk factors and clinical phenotype in familial and sporadic primary blepharospasm. Neurology 2011; 77: 631-637. https://doi.org/10.1212/WNL.0b013e3182299e13
Defazio G, Martino D, Abbruzzese G, Girlanda P, Tinazzi M. et al. Influence of coffee drinking and cigarette smoking on the risk of primary late onset blepharospasm: Evidence from a multicentre case control study. J Neurol Neurosurg Psychiatry 2007; 78: 877-879. https://doi.org/10.1136/jnnp.2007.119891
van Harten PN, van Trier JC, Horwitz EH, Matroos GE, Hoek HW. Cocaine as a risk factor for neuroleptic-induced acute dystonia. J Clin Psychiatry 1998; 59: 128-130. https://doi.org/10.4088/JCP.v59n0307
Torres-Russottoa D and Perlmuttera J. S. Task-specific dystonias. Ann N Y Acad Sci 2009; 1142: 179-199. https://doi.org/10.1196/annals.1444.012
Go CL, Rosales RL. Dystonia arising from occupations: The clinical phenomenology and therapy. In: Rosales RL, (Eds.). Dystonia_The many fecets. Intech, 2012.
Lugo R, Fernandez HH. Dystonia in parkinsonian syndromes. In: Rosales RL, (Eds.). Dystonia_The many fecets. Intech, 2012.
Karagoz G, Kadanali A, Dede B, Anadol U, Yucel M, et al. Metoclopramide-induced acute dystonic reaction: A case report. Eurasian J Med 2013; 45: 58-59. https://doi.org/10.5152/eajm.2013.10
Valente EM, Warner TT, Jarman PR, Mathen D, Fletcher NA, et al. The role of DYT1 in primary torsion dystonia in Europe. Brain 1998; 121:2335-2339. https://doi.org/10.1093/brain/121.12.2335
Major T, Svetel M, Romac S, Kostić VS. DYT1 mutation in primary torsion dystonia in a Serbian population. J Neurol 2001; 248: 940-943. https://doi.org/10.1007/s004150170045
Muller U. The monogenic primary dystonias. Brain 2009; 132: 2005-2025. https://doi.org/10.1093/brain/awp172
Bragg DC, Sharma NN. Update on treatments for dystonia. Curr Neurol Neurosci Rep 2014; 14: 454. https://doi.org/10.1007/s11910-014-0454-8
Jankovic J. Medical treatment of dystonia. Mov Disord 2013; 28: 1001-1012. https://doi.org/10.1002/mds.25552
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
Uddin MS, Amran MS (eds). Handbook of Research on Critical Examinations of Neurodegenerative Disorders. Pennsylvania: IGI Global, 2018
Jinnah HA. Diagnosis & treatment of dystonia. Neurol Clin 2015; 33: 77-100. https://doi.org/10.1016/j.ncl.2014.09.002
Hu W, Stead M. Deep brain stimulation for dystonia. Transl Neurodegen, 2014; 3: 1-5. https://doi.org/10.1186/2047-9158-3-2
Olanow CW, Schapira AHV. Parkinson's disease and other extrapyramidal movement disorders. In: Hauser SL, (Eds.). Harrison’s Neurology in Clinical Medicine. New York, United States: Mc Graw Hill Education, 2013.
Voges J. Surgical treatment of dystonia. In: Kanovsky P., Bhatia K., Rosales R. (Eds.) Dystonia and dystonic syndromes. Springer, Vienna, 2015. https://doi.org/10.1007/978-3-7091-1516-9_12
