Book contents
- International Compendium of Movement Disorders
- International Compendium of Movement Disorders
- Copyright page
- Contents
- Contributors
- International Compendium of Movement Disorders
- Hypo- and Hyperkinetic, Dyscoordinative and Otherwise Inappropriate Motor and Behavioral Movement Disorders
- Section 1: Basic Introduction
- Section 2: Hypokinetic Movement Disorders
- Section 3: Hyperkinetic Movement Disorders
- Chapter 36 Primary Dystonia
- Chapter 37 Secondary Dystonia
- Chapter 38 Treatment of Dystonia
- Chapter 39 Primary and Secondary Tremors
- Chapter 40 The Pathophysiology of Tremor
- Chapter 41 Treatment of Tremor
- Chapter 42 Myoclonus
- Chapter 43 Chorea
- Chapter 44 Ballism
- Chapter 45 Gilles de la Tourette Syndrome and Other Tics
- Section 4: Dyscoordinative and Otherwise Inappropriate Motor Behaviors
- Section 5: Objectifying Movement Disorders
- Movement Disorders in Vivo: Video Fragments
- Acronyms and Abbreviations
- Index
- References
Chapter 37 - Secondary Dystonia
from Section 3: - Hyperkinetic Movement Disorders
Published online by Cambridge University Press: 07 January 2025
Book contents
- International Compendium of Movement Disorders
- International Compendium of Movement Disorders
- Copyright page
- Contents
- Contributors
- International Compendium of Movement Disorders
- Hypo- and Hyperkinetic, Dyscoordinative and Otherwise Inappropriate Motor and Behavioral Movement Disorders
- Section 1: Basic Introduction
- Section 2: Hypokinetic Movement Disorders
- Section 3: Hyperkinetic Movement Disorders
- Chapter 36 Primary Dystonia
- Chapter 37 Secondary Dystonia
- Chapter 38 Treatment of Dystonia
- Chapter 39 Primary and Secondary Tremors
- Chapter 40 The Pathophysiology of Tremor
- Chapter 41 Treatment of Tremor
- Chapter 42 Myoclonus
- Chapter 43 Chorea
- Chapter 44 Ballism
- Chapter 45 Gilles de la Tourette Syndrome and Other Tics
- Section 4: Dyscoordinative and Otherwise Inappropriate Motor Behaviors
- Section 5: Objectifying Movement Disorders
- Movement Disorders in Vivo: Video Fragments
- Acronyms and Abbreviations
- Index
- References
Summary
Secondary dystonia comprises a group of diverse dystonia syndromes, including hereditary diseases with a clinical phenotype exceeding dystonia as well as acquired dystonia. The first step in the classification of dystonic symptoms should be according to its clinical characteristics – age at onset, body distribution, temporal pattern and associated features. Limb dystonia in adulthood, as well as craniocervical dystonia presentation in childhood and young adolescence, point away from primary dystonia causes. Associated clinical features such as oculomotor disturbances, parkinsonism, cognitive and neuropsychiatric symptoms, and systemic involvement can be instructive for identifying the underlying dystonia syndrome. The diagnostic workup in patients with secondary dystonia depends on the suspected dystonia syndrome and can include laboratory tests in serum and cerebrospinal fluid (CSF), magnetic resonance (MR) imaging, genetic testing, etc. It is important to identify potential treatable causes, e.g., dopa-responsive dystonia, Wilson’s disease, Niemann–Pick Type C, infectious and autoimmune diseases, etc. Symptomatic treatments are also available.
Keywords
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- Information
- International Compendium of Movement Disorders , pp. 445 - 461Publisher: Cambridge University PressPrint publication year: 2025
References
Albanese, A, Bhatia, K, Bressman, SB, et al. Phenomenology and classification of dystonia: a consensus update. Mov Disord 2013;28(7):863–873.CrossRefGoogle ScholarPubMed
Wijemanne, S, Jankovic, J. Dopa-responsive dystonia – clinical and genetic heterogeneity. Nat Rev Neurol 2015;11(7):414–424.CrossRefGoogle ScholarPubMed
Maas, RPPWM, Wassenberg, T, Lin, JP, et al. l-Dopa in dystonia: a modern perspective. Neurology 2017;88(19):1865–1871.CrossRefGoogle ScholarPubMed
Weiss, KH, Askari, FK, Czlonkowska, A, et al. Bis-choline tetrathiomolybdate in patients with Wilson’s disease: an open-label, multicentre, phase 2 study. Lancet Gastroenterol Hepatol 2017;2(12):869–876.CrossRefGoogle ScholarPubMed
Alfadhel, M, Almuntashri, M, Jadah, RH, et al. Biotin-responsive basal ganglia disease should be renamed biotin–thiamine-responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findings of 18 new cases. Orphanet J Rare Dis 2013;8:83.CrossRefGoogle ScholarPubMed
Tabarki, B, Alfadhel, M, AlShahwan, S, et al. Treatment of biotin-responsive basal ganglia disease: open comparative study between the combination of biotin plus thiamine versus thiamine alone. Eur J Paediatr Neurol 2015;19(5):547–552.CrossRefGoogle ScholarPubMed
Patterson, MC, Clayton, P, Gissen, P, et al. Recommendations for the detection and diagnosis of Niemann–Pick disease type C: an update. Neurol Clin Pract 2017;7(6):499–511.CrossRefGoogle ScholarPubMed
Patterson, MC, Mengel, E, Vanier, MT et al. Treatment outcomes following continuous miglustat therapy in patients with Niemann–Pick disease Type C: a final report of the NPC Registry. Orphanet J Rare Dis 2020;15(1):104.CrossRefGoogle ScholarPubMed
Brashear, A, Dobyns, WB, de Carvalho Aguiar, P, et al. The phenotypic spectrum of rapid-onset dystonia–parkinsonism (RDP) and mutations in the ATP1A3 gene. Brain 2007;130(3):828–835.CrossRefGoogle ScholarPubMed
Bachoud-Lévi, AC, Ferreira, J, Massart, R, et al. International guidelines for the treatment of Huntington’s disease. Front Neurol 2019;10:710.CrossRefGoogle ScholarPubMed
Saft, C, von Hein, SM, Lücke, T, et al. Cannabinoids for treatment of dystonia in Huntington’s disease. J Huntingtons Dis 2018;7(2):167–173.CrossRefGoogle ScholarPubMed
Chang, X, Zhang, J, Jiang, Y, et al. Natural history and genotype–phenotype correlation of pantothenate kinase-associated neurodegeneration. CNS Neurosci Ther 2020;26(7):754–761.CrossRefGoogle ScholarPubMed
Iankova, V, Karin, I, Klopstock, T, Schneider, SA. Emerging disease-modifying therapies in neurodegeneration with brain iron accumulation (NBIA) disorders. Front Neurol 2021;12:629414.CrossRefGoogle ScholarPubMed
Markovic, V, Dragasevic-Miskovic, NT, Stankovic, et al. Dystonia in patients with spinocerebellar ataxia type 2. Mov Disord Clin Pract 2015;3(3):292–295.CrossRefGoogle ScholarPubMed
Catai, LMP, Camargo, CHF, Moro, A, et al. Dystonia in patients with spinocerebellar ataxia 3–Machado–Joseph disease: an underestimated diagnosis? Open Neurol J 2018;12:41–49.CrossRefGoogle ScholarPubMed
Lee, LV, Rivera, C, Teleg, RA, et al. The unique phenomenology of sex-linked dystonia parkinsonism (XDP, DYT3, “Lubag”). Int J Neurosci 2011;121(S1):3–11.CrossRefGoogle ScholarPubMed
Jinnah, HA, Visser, JE, Harris, JC, et al. Delineation of the motor disorder of Lesch–Nyhan disease. Brain 2006;129(5):1201–1217.CrossRefGoogle ScholarPubMed
Mehanna, R, Jankovic, J. Movement disorders in cerebrovascular disease [published correction appears in Lancet Neurol 2013;12(8):733].Google Scholar
Lewis, K, O’Day, CS. Dystonic reactions. [Updated 2021 Jun 4]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2021.Google Scholar
Macerollo, A, Deuschl, G. Deep brain stimulation for tardive syndromes: systematic review and meta-analysis. J Neurol Sci 2018;389:55–60.CrossRefGoogle ScholarPubMed
Cardoso, F. HIV-related movement disorders: epidemiology, pathogenesis and management. CNS Drugs 2002;16(10):663–668.CrossRefGoogle Scholar
Balint, B, Vincent, A, Meinck, HM, et al. Movement disorders with neuronal antibodies: syndromic approach, genetic parallels and pathophysiology. Brain 2018; 141(1):13–36.CrossRefGoogle ScholarPubMed
Varley, JA, Webb, AJS, Balint, B, et al. The movement disorder associated with NMDAR antibody–encephalitis is complex and characteristic: an expert video-rating study. J Neurol Neurosurg Psychiatry 2019;90(6):724–726.CrossRefGoogle ScholarPubMed
Dale, RC, Merheb, V, Pillai, S, et al. Antibodies to surface dopamine-2 receptor in autoimmune movement and psychiatric disorders. Brain 2012;135(11):3453–3468.CrossRefGoogle ScholarPubMed
Spatola, M, Petit-Pedrol, M, Simabukuro, MM, et al. Investigations in GABAA receptor antibody-associated encephalitis. Neurology 2017;88(11):1012–1020.CrossRefGoogle ScholarPubMed
Irani, SR, Michell, AW, Lang, B, et al. Faciobrachial dystonic seizures precede Lgi1 antibody limbic encephalitis. Ann Neurol 2011;69(5):892–900.CrossRefGoogle ScholarPubMed
Thompson, J, Bi, M, Murchison, AG, et al. The importance of early immunotherapy in patients with faciobrachial dystonic seizures. Brain 2018;141(2):348–356.CrossRefGoogle ScholarPubMed
Cerovac, N, Petrović, I, Klein, C, Kostić, VS. Delayed-onset dystonia due to perinatal asphyxia: a prospective study. Mov Disord 2007;22(16):2426–2429.CrossRefGoogle Scholar
O’Suilleabhain, P, Dewey, RB Jr. Movement disorders after head injury: diagnosis and management. J Head Trauma Rehabil 2004;19(4):305–313.CrossRefGoogle ScholarPubMed
Carolei, A, Marini, C, Palladini, G. Manganism. Neurology 1995;45(11):2114–2115.CrossRefGoogle ScholarPubMed
Choi, IS, Cheon, HY. Delayed movement disorders after carbon monoxide poisoning. Eur Neurol 1999;42(3):141–144.CrossRefGoogle ScholarPubMed
Huang, CC, Chu, NS, Lu, CS, et al. Long-term progression in chronic manganism: ten years of follow-up. Neurology 1998;50(3):698–700.CrossRefGoogle ScholarPubMed
Tavasoli, A, Arjmandi Rafsanjani, K, Hemmati, S, et al. A case of dystonia with polycythemia and hypermanganesemia caused by SLC30A10 mutation: a treatable inborn error of manganese metabolism. BMC Pediatr 2019;19(1):229.CrossRefGoogle ScholarPubMed
Shetty, AS, Bhatia, KP, Lang, AE. Dystonia and Parkinson’s disease: what is the relationship? Neurobiol Dis 2019;132:104462.CrossRefGoogle ScholarPubMed
Boesch, SM, Wenning, GK, Ransmayr, G, Poewe, W. Dystonia in multiple system atrophy. J Neurol Neurosurg Psychiatry 2002;72(3):300–303.CrossRefGoogle ScholarPubMed
Respondek, G, Stamelou, M, Kurz, C, et al. The phenotypic spectrum of progressive supranuclear palsy: a retrospective multicenter study of 100 definite cases. Mov Disord 2014;29(14):1758–1766.CrossRefGoogle ScholarPubMed
Stamelou, M, Alonso-Canovas, A, Bhatia, KP. Dystonia in corticobasal degeneration: a review of the literature on 404 pathologically proven cases. Mov Disord 2012;27(6):696–702.CrossRefGoogle ScholarPubMed
Ganos, C, Edwards, MJ, Bhatia, KP. The phenomenology of functional (psychogenic) dystonia. Mov Disord Clin Pract 2014;1(1):36–44.CrossRefGoogle ScholarPubMed
Papandreou, A, Danti, FR, Spaull, R, et al. The expanding spectrum of movement disorders in genetic epilepsies. Dev Med Child Neurol 2020;62(2):178–191.CrossRefGoogle ScholarPubMed
Duarte, GS, Castelão, M, Rodrigues, FB, et al. Botulinum toxin type A versus botulinum toxin type B for cervical dystonia. Cochrane Database Syst Rev 2016;10 CD004314.Google ScholarPubMed
Rodrigues, FB, Duarte, GS, Marques, RE, et al. Botulinum toxin type A therapy for cervical dystonia. Cochrane Database Syst Rev 2020;11:CD003633.Google ScholarPubMed
Jankovic, J, Truong, D, Patel, AT, et al. Injectable daxibotulinumtoxinA in cervical dystonia: a phase 2 dose-escalation multicenter study. Mov Disord Clin Pract 2018;5(3):273–282.CrossRefGoogle ScholarPubMed
Burke, RE, Fahn, S, Marsden, CD. Torsion dystonia: a double-blind, prospective trial of high-dosage trihexyphenidyl. Neurology 1986;36(2):160–164.CrossRefGoogle ScholarPubMed
Albright, AL, Barry, MJ, Shafton, DH, Ferson, SS. Intrathecal baclofen for generalized dystonia. Dev Med Child Neurol 2001;43(10):652–657.CrossRefGoogle ScholarPubMed
Tassorelli, C, Mancini, F, Balloni, L, et al. Botulinum toxin and neuromotor rehabilitation: an integrated approach to idiopathic cervical dystonia. Mov Disord 2006;21(12):2240–2243.CrossRefGoogle ScholarPubMed
Erro, R, Tinazzi, M, Morgante, F, Bhatia, K. Non-invasive brain stimulation for dystonia: therapeutic implications. Eur J Neurol 2017;24(10):1228–e64.CrossRefGoogle ScholarPubMed
Moro, E, LeReun, C, Krauss, JK, et al. Efficacy of pallidal stimulation in isolated dystonia: a systematic review and meta-analysis. Eur J Neurol 2017;24(4):552–560.CrossRefGoogle ScholarPubMed
Rodrigues, FB, Duarte, GS, Prescott, D, et al. Deep brain stimulation for dystonia. Cochrane Database Syst Rev 2019;1:CD012405.Google ScholarPubMed
Centen, LM, Oterdoom, D, Tijssen, M et al. Bilateral pallidotomy for dystonia: a systematic review. Mov Disord 2021,36(3): 547–557.CrossRefGoogle ScholarPubMed
Horisawa, S, Ochiai, T, Goto, S, et al. Safety and long-term efficacy of ventro-oral thalamotomy for focal hand dystonia: a retrospective study of 171 patients. Neurology 2019;92(4):e371–e377.CrossRefGoogle ScholarPubMed
Hopfner, F, Schneider, SA. Dystonia in neurological diseases. In: Wolters, ECh, Baumann, CR, eds. Parkinson Disease and Other Movement Disorders. Amsterdam: VU University Press; 2014: 437–451.Google Scholar