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Chapter 36 - Primary Dystonia

from Section 3: - Hyperkinetic Movement Disorders

Published online by Cambridge University Press:  07 January 2025

By
Karen Frei  and
Daniel Truong
Edited by
Erik Ch. Wolters  and
Christian R. Baumann
Erik Ch. Wolters
Affiliation:
Universität Zürich
Christian R. Baumann
Affiliation:
Universität Zürich
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Summary

Dystonia, defined as a movement disorder characterized by sustained or intermittent muscle contractions causing abnormal, often repetitive, movements, postures, or both, results in patterned, twisted, and sometimes tremulous movements. When dystonia is the sole manifestation, it is known as primary dystonia. Primary dystonia is an uncommon disorder and includes genetic forms of dystonia as well as idiopathic dystonia. Dystonia can involve one body part, when it is called focal; more than one contiguous body part, when it is known as segmental; or involving the trunk and more than two body parts, when it is called generalized. This chapter reviews primary dystonia: the epidemiology, the current theories of pathophysiology, the clinical description, and available treatments of genetic as well as the various forms of focal dystonia, including blepharospasm, oromandibular dystonia, laryngeal dystonia, cervical dystonia, focal hand dystonia and truncal dystonia.

Keywords

Dystoniagenetic dystoniafocal dystoniablepharospasmoromandibular dystoniacervical dystoniafocal hand dystoniawriter’s cramptruncal dystoniabotulinum toxindeep brain stimulation
Type
Chapter
Information
International Compendium of Movement Disorders , pp. 431 - 444
Publisher: Cambridge University Press
Print publication year: 2025

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References

Albanese, A, Bhatia, K, Bressman, SB, et al. Phenomenology and classification of dystonia: a consensus update. Mov Disord 2013;28:863–873.CrossRefGoogle ScholarPubMed
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.CrossRefGoogle ScholarPubMed
Defazio, G, Abbruzzese, G, Livrea, P, Berardelli, A. Epidemiology of primary dystonia. Lancet Neurol 2004;3:673–678.CrossRefGoogle ScholarPubMed
Lohmann, K, Klein, C. Update on the genetics of dystonia. Curr Neurol Neurosci Rep 2017;17:26.CrossRefGoogle ScholarPubMed
Marras, C, Lang, A, van de Warrenburg, BP, et al. Nomenclature of genetic movement disorders: recommendations of the International Parkinson and Movement Disorder Society Task Force. Mov Disord 2016;31;436–457.CrossRefGoogle ScholarPubMed
Segawa, M, Nomura, Y. Genetics and pathophysiology of primary dystonia with special emphasis on DYT1 and DYT5. Semin Neurol 2014;34:306–311.Google ScholarPubMed
Gonzalez-Alegre, P. Advances in molecular and cell biology of dystonia: focus on torsin A. Neurobiol Dis 2019;127:233–241.CrossRefGoogle Scholar
Domingo, A, Yadav, R, Ozelius, LJ. Isolated dystonia: clinical and genetic updates. J Neural Transm 2021;128:405–416.CrossRefGoogle ScholarPubMed
Lange, LM, Junker, J, Loens, S, et al. Genotype–phenotype relations for isolated dystonia genes: MDSGene systematic review. Mov Disord 2021;36:1086–1103.CrossRefGoogle ScholarPubMed
Meijer, IA, Pearson, TS. The twists of pediatric dystonia: phenomenology, classification and genetics. Semin Pediatr Neurol 2018;25:65–74.CrossRefGoogle ScholarPubMed
Panda, PK, Sharawat, IK. Col6A3 mutation associated early-onset isolated dystonia [DYT]-27: report of a new case and review of published literature. Brain Dev 2020;42:329–335.CrossRefGoogle ScholarPubMed
Sarmiento, IKK, Mencacci, NE. Genetic dystonia: update on classification and new genetic discoveries. Curr Neurol Neurosci Rep 2021;21:8.CrossRefGoogle Scholar
Gonzalez-Latapi, P, Marotta, N, Mencacci, NE. Emerging and converging molecular mechanisms in dystonia. J Neural Transm (Vienna) 2021;128:483–498.CrossRefGoogle ScholarPubMed
Quarterone, A, Hallett, M. Emerging concepts in the physiological basis of dystonia. Front Neurol 2018;9:12.Google Scholar
Quartarone, A, Ruge, D. How many types of dystonia? Pathophysiological considerations. Front Neurol 2018;9:12.CrossRefGoogle ScholarPubMed
McCambridge, AB, Bradman, LV. Cortical neurophsyiology of primary isolated dystonia and nondystonic adults: a meta-analysis. Eur J Neurosci 2021;53:1300–1323.CrossRefGoogle Scholar
Valls-Sole, J, Defazio, G. Blepharospasm: update on epidemiology, clinical aspects and pathophysiology. Front Neurol 2016;7:45.CrossRefGoogle ScholarPubMed
Jinnah, HA, Sun, YV. Dystonia genes and their biological pathways. Neurobiol Dis 2019;129:159–168.CrossRefGoogle ScholarPubMed
Gonzalez-Alegre, P. Advances in molecular and cell biology of dystonia: focus on torsin A. Neurobiol Dis 2019;127:233–241.CrossRefGoogle Scholar
LeDoux, MS, Dauer, WT, Warner, TT. Emerging common molecular pathways for primary dystonia. Mov Disord 2013;28:968–981.CrossRefGoogle ScholarPubMed
Albanese, A. How many dystonias? Clinical evidence. Front Neurol 2017;8:18.CrossRefGoogle ScholarPubMed
Mainka, T, Erro, R, Rothwell, J, et al. Remission in dystonia – systematic review of the literature and meta-analysis. Parkinsonism Relat Disord 2019;66:9–15.CrossRefGoogle ScholarPubMed
Shakh, AG, Beylergil, SB, Scorr, L, et al. Dystonia and tremor. A cross-sectional study of the Dystonia Coalition cohort. Neurology 2021;96:e563–e574.Google Scholar
Avenali, M, De Icco, R, Tinazzi, M, et al. Pain in focal dystonias – a focused review to address an important component of the disease. Parkinsonism Relat Disord 2018;54:17–24.CrossRefGoogle ScholarPubMed
Ma, H, Qu, J, Ye, L, Shu, Y, Qu, Q. Blepharospasm, oromandibular dystonia and Meige syndrome: clinical and genetic update. Front Neurol 2021;12:630221.CrossRefGoogle ScholarPubMed
Defazio, G, Hallett, M, Jinnah, HA, Conte, A, Berardelli, A. Blepharospasm 40 years later. Mov Disord 2017;32:498–509.CrossRefGoogle ScholarPubMed
Pandey, S, Sharma, S. Meige’s syndrome: history, epidemiology, clinical features, pathogenesis and treatment. J Neurol Sci 2017;372:162–170.CrossRefGoogle ScholarPubMed
Yen, MT. Developments in the treatment of benign essential blepharospasm. Curr Opin Ophthalmol 2018;29:440–444.CrossRefGoogle ScholarPubMed
Duarte, GS, Rodrigues, FB, Marques, RE, et al. Botulinum toxin type A therapy for blepharospasm. Cochrane Database Syst Rev 2020;11:CD004900.Google ScholarPubMed
Dadgardoust, PD, Rosales, RL, Asuncion, RM, Dressler, D. Botulinum neurotoxin therapy efficacy and safety for oromandibular dystonia: a meta-analysis. J Neural Transm (Vienna) 2019;126:141–148.CrossRefGoogle ScholarPubMed
Colisimo, C, Suppa, A, Fabbrini, G, Bologna, M, Berardelli, A. Craniocervical dystonia: clinical and pathophysiological features. Eur J Neurol 2010;17(Suppl):15–21.CrossRefGoogle Scholar
De Meyer, M, Vereecke, L, Bottenberg, P, et al. Oral appliances in the treatment of oromandibular dystonia: a systematic review. Acta Neurolog Belg 2020;120:831–836.CrossRefGoogle ScholarPubMed
Simonyan, K, Barkmeier-Kraemer, J, Blitzer, A, et al. Laryngeal dystonia: multidisciplinary update on terminology, pathophysiology, and research priorities. Neurology 2021;96:989–1001.CrossRefGoogle ScholarPubMed
Duarte, GS, Castelao, M, Rodriguez, FB, et al. Botulinum toxin type A versus botulinum type B for cervical dystonia. Cochrane Database Syst Rev 2016;10:CD004314.Google ScholarPubMed
Raju, S, Ravi, A, Prashanth, LK. Cervical dystonia mimics: a case series and review of the literature. Tremor Other Hyperkinet Mov 2019;9.CrossRefGoogle Scholar
Castagna, A, Albanese, A. Management of cervical dystonia with botulinum toxin injections and EMG/ultrasound guidance. Neurol Clin Pract 2018;6:64–73.Google Scholar
Brodoehl, S, Wagner, F, Prell, T, et al. Cause or effect: altered brain and network activity in cervical dystonia is partially normalized by botulinum toxin treatment. Neuroimage Clin 2019;22:101792.CrossRefGoogle ScholarPubMed
Hu, W, Rundle-Gonzalez, V, Kulkarni, SJ, et al. A randomized study of botulinum toxin versus botulinum toxin plus physical therpy for treatment of cervical dystonia. Parkinsonism Relat Disord 2019;63:195–198.CrossRefGoogle Scholar
Van den Dool, J, Visser, B, Koelman, JH, Englebert, RH, Tijssen, MA. Long-term specialized physical therapy in cervical dystonia: outcomes of a randomized controlled trial. Arch Phy Med Rehab 2019;100:1417–1425.CrossRefGoogle ScholarPubMed
Hua, X, Zhang, B, Zheng, Z, et al. Predictive factors of outcome in cervical dystonia following deep brain stimulation: an individual patient data meta-analysis. J Neurol 2020;267:1780–1792.CrossRefGoogle ScholarPubMed
Tsuboi, T, Wong, JK, Almeida, L, et al. A pooled meta-analysis of GPi and STN deep brain stimulation outcomes for cervical dystonia. J Neurol 2020;267:1278–1290.CrossRefGoogle ScholarPubMed
Shaikh, AG, Zee, DS, Crawford, JD, Jinnah, HA. Cervical dystonia: a neural integrator disorder. Brain 2016;139:2510–2599.CrossRefGoogle ScholarPubMed
Pandey, S, Sharma, S. Meige’s syndrome: history, epidemiology, clinical features, pathogenesis and treatment. J Neurol Sci 2017;372:162–170.CrossRefGoogle ScholarPubMed
Aires, A, Gomes, T, Linhares, P, et al. The impact of deep brain stimulation on health quality of life and disease-specific disability in Meige syndrome [MS]. Clin Neurol Neurosurg 2018;171:53–57.CrossRefGoogle ScholarPubMed
Wang, X, Zhang, Z, Mao, Z, Yu, X. Deep brain stimulation for Meige syndrome: a meta-analysis with individual patient data. J Neurol 2019;266:2646–2656.CrossRefGoogle ScholarPubMed
Stahl, CM, Frucht, SJ. Focal task specific dystonia: a review and update. J Neurol 2017;264:1536–1541.CrossRefGoogle Scholar
Goldman, J. Writer’s cramp. Toxicon 2015;107:98–104.CrossRefGoogle ScholarPubMed
Martinez-Ramirez, D, Paz-Gomez, V, Rodriguez, RL. Response to zolpidem in oromandibular dystonia: a case report. Parkinsonism Relat Disord 2015;21:154–155.CrossRefGoogle ScholarPubMed
Spiegel, LL, Ostrem, JL, Bledsoe, IO. FDA approvals and consensus guidelines for botulinum toxins in the treatment of dystonia. Toxins 2020;12:332.CrossRefGoogle ScholarPubMed
Macerollo, A, Sajin, V, Bonello, M, et al. Deep brain stimulation in dystonia: state of art and future directions. J Neurosci Meth 2020;340:108750.CrossRefGoogle ScholarPubMed
Tsuboi, T, Cauraugh, JH, Wong, JK, Okun, MS, Ramirez-Zamora, A. Quality of life outcomes after globus pallidus internus deep brain stimulation in idiopathic or inherited isolated dystonia: a meta-analysis. J Neurol Neurosurg Psychiat 2020;91:938–944.CrossRefGoogle ScholarPubMed
Frei, K, Trung, D. The classification of dystonia. In: Wolters, ECh, Baumann, CR, eds. Parkinson Disease and Other Movement Disorders. Motor Behavioural Disorders and Behavioural Motor Disorders. Amsterdam: VU University Press; 2014: 425–435.Google Scholar

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