Modern concepts of muscular dystonia
https://doi.org/10.25789/YMJ.2025.90.26
Abstract
This study presents a comprehensive analysis of the genetic, clinical, and therapeutic aspects of muscular dystonias — a heterogeneous group of neurological disorders characterized by pathological postures and disabling hyperkinesias. Based on a synthesis of data from recent decades, the authors highlight key advancements: the identification of 25 hereditary forms (DYT1–DYT25), the role of mutations in the TOR1A gene (DYT1) in disrupting intracellular transport, and progress in symptomatic treatments such as botulinum toxin therapy, deep brain stimulation, and MR-guided focused ultrasound (MRgFUS). Special attention is given to the limitations of current approaches, including an incomplete understanding of pathogenesis and therapeutic resistance observed in 30-40% of patients. The necessity of integrating genetic testing, neuroimaging, and emerging biotechnologies (e.g., CRISPR, recombinant toxins) is emphasized as a pathway toward developing targeted treatment strategies. The paper also summarizes epidemiological data (prevalence: 3–60 cases per 100,000), presents the current classification framework, and outlines prospects for personalized medicine – offering a roadmap for future research.
About the Authors
A. E. Adamova
ФГБНУ «Якутский научный центр комплексных медицинских проблем»
Russian Federation
Russian Federation
A. V. Krylov
ФГБНУ «Якутский научный центр комплексных медицинских проблем»
Russian Federation
Russian Federation
References
1. ABC of botulinum therapy: scientific and practical ed. [Artemenko A.R., Dutikova E.M. et al.]; edited by S.L. Timerbaeva. M.: Practical Medicine, 2018. 416 p.
2. Badalyan L.O., Shevchenko O.V., et al. Clinical and neurophysiological features of dystonia // Neurology, neuropsychiatry, psychosomatics. 2018. No. 3. P. 72–78.
3. Bushueva O.O., Antipenko E.A. Modern concepts of the etiology and pathogenesis of muscular dystonia. Journal of Neurology and Psychiatry named after S.S. Korsakov. 2021; No. 121(4). P. 127-133.
4. Galimova R.M., Nabiullina D.I., Illarioshkin S.N., Safin Sh.M., Sidorova Yu.A., Akhmadeeva G.N., Mukhamadeeva N.R., Zagidullin N.Sh., Kachemaeva O.V., Krekotin D.K., Buzaev I.V. The first experience in Russia of treatment of patients with essential tremor by the method of focused ultrasound under the control of MRI // Annals of Clinical and Experimental Neurology. 2022. Vol. 16, No 2. P. 5–14. DOI: https://doi.org/10.54101/ACEN.2022.2.1.
5. Galimova R.M., Illarioshkin S.N., Buzaev I.V., Sidorova Yu.A., Krekotin D.K., Safin Sh.M., Nabiullina D.I., Akhmadeeva G.N., Teregulova D.R. Focused MRI-guided ultrasound in the treatment of cervical dystonia // Annals of Clinical and Experimental Neurology. 2023. Vol. 17, No 4. P. 28–34. DOI: https://doi.org/10.54101/ACEN.2023.4.3.
6. Zhdanov P.V. Current aspects of botulinum toxin A in cosmetic medicine // International journal "Flagship of Science". 2024. No. 8 (19).
7. Krasnov M.Yu., Timerbaeva S.L., Illarioshkin S.N. Genetics of hereditary forms of dystonia // Annals of Clinical and Experimental Neurology. 2013. No. 2(7). P. 55-62.\
8. Litvinov M.A., Bogdanova O.Yu., Chernykh T.F. On the issue of optimization of the workshop for the production of recombinant immunobiological preparations (vaccines) // International Journal of Applied and Fundamental Research. 2024. No. 2. P. 27–31. doi: 10.17513/mjpfi.13613.
9. Makarov A.V., Konovalova N.V., Starostina E.G. et al. Dystonia: modern aspects of diagnosis and treatment // Neurology, neuropsychiatry, psychosomatics. 2019. No. 2. P. 64–70.
10. International Classification of Diseases, 10th revision. [Electronic source] (Accessed: 25.09.24). https://mkb-10.com.
11. Orlova O.R. Focal dystonia: modern approaches to diagnostics and possibilities of botulinum therapy // Actual issues of neurology. 2016. No. 4. P. 3–12.
12. Orlova O.R., Alferova V.V., Artemyev D.V. Dystonia. Clinical guidelines // All-Russian Society of Neurologists. 2021. P. 1–60.
13. Use of botulinum toxin for aesthetic indications. Theory and practice / Kenneth R. Beer; trans. from English; edited by prof. E.I.Gubanova. – M.: MEDpress-inform, 2018. – 120 p.
14. Likhachev S. A., Chernukha T. N., Navosha S. L., et al. Integrated approach to the treatment of rare forms of muscular dystonia // Clinical neurology. 2011. Vol. 5. No. 4.
15. Supotnitsky M.V. Bacterial toxins. Their nature, mechanisms of action, possibilities of constructing hybrid and modified toxins // Biopreparations. 2011. No. 1. P. 6–15.
16. Timerbaeva S.L. Botulinum toxin injections – a revolutionary method of treating movement disorders // RMJ. 2015. No. 24. P. 1441–1445.
17. Shikhkerimov R.K., Istomina E.V. Recombinant botulinum toxins as a new stage in the development of botulinum therapy. Possibilities and prospects of application in neurological practice // Neurology, neuropsychiatry, psychosomatics. 2022;14(6):103-109. doi: 10.14412/2074-2711-2022-6-103-109.
18. Albanese A, Barnes MP, Bhatia KP, et al. A systematic review on the diagnosis and treatment of primary (idiopathic) dystonia and dystonia plus syndromes: report of an EFNS/MDS-ES Task Force. Eur J Neurol. 2006;13(5):433-44. doi: 10.1111/j.1468-1331.2006.01537x.
19. Aoki KR, Guyer B. Botulinum toxin type A and other botulinum toxin serotypes: a comparative review of biochemical and pharmacological actions. Eur J Neurol. 2001;8(5):21-9. doi: 10.1046/j.1468-1331.2001.00035x
20. Balint B, Mencacci NE, Valente EM, et al. Dystonia. Nat. Rev. Dis. Primer. 2018;4:25. doi: 10.1038/s41572-018-0023-6
21. Bentivoglio AR, Del Grande A, Petracca M, Ialongo T, Ricciardi L. Clinical differences between botulinum neurotoxin type A and B. Toxicon. 2015;107:77-84. doi: 10.1016/j.toxicon.2015.08.001
22. Binz T, Blasi J, Yamasaki S, et al. Proteolysis of SNAP-25 by types E and A botulinal neurotoxins. J Biol Chem. 1994;269(3):1617-20
23. Choudhury S, Baker MR, Chatterjee S, Kumar H. Botulinum Toxin: An Update on Pharmacology and Newer Products in Development. Toxins (Basel). 2021;13(1):58. doi: 10.3390/toxins13010058
24. Defazio G, Abbruzzese G, Livrea P, Berardelli A. Epidemiology of primary dystonia. Lancet Neurol. 2004;3(11):673-8. doi: 10.1016/S14744422(04)00907-X
25. Dressler D, Adib Saberi F, Rosales RL. Botulinum toxin therapy of dystonia. J Neural Transm (Vienna). 2021;128(4):531-537. doi: 10.1007/s00702-020-02266-z
26. Dressler D, Adib Saberi F, Rosales RL. Botulinum toxin therapy of dystonia. J Neural Transm (Vienna). 2021;128(4):531-537. doi: 10.1007/s00702-020-02266-z.
27. Fuchs T, Ozelius LJ. Genetics of dystonia. Semin Neurol. 2011;31(5):441-8. doi: 10.1055/s0031-1299783
28. Grütz K, Klein C. Dystonia updates: definition, nomenclature, clinical classification, and etiology. J Neural Transm (Vienna). 2021;128(4):395-404. doi: 10.1007/s00702-021-02314-2
29. Guinal SM, Jamora RD, Khu KJ, et al. Magnetic resonance-guided focused ultrasound in dystonia: a scoping review. Neurol Sci. 2025;46(3):1121-1130. doi: 10.1007/s10072-024-07882-1
30. Imbriani P, Ponterio G, Tassone A, et al. Models of dystonia: an update. J Neurosci Methods. 2020;339:108728. doi: 10.1016/j.jneumeth.2020.108728
31. Jamora RD, Khu KJ, Sy MC, et al. Transcranial magnetic resonance-guided focused ultrasound pallidothalamic tractotomy for patients with X-linked dystonia-parkinsonism: a study protocol. BMC Neurol. 2023;23(1):306. doi: 10.1186/s12883-023-03344-x
32. Koptielow J, Szyłak E, Szewczyk-Roszczenko O, et al. Genetic Update and Treatment for Dystonia. Int J Mol Sci. 2024;25(7):3571. doi: 10.3390/ijms25073571
33. Krauss JK, Lipsman N, Aziz T, et al. Technology of deep brain stimulation: current status and future directions. Nat Rev Neurol. 2021;17(2):75-87. doi: 10.1038/s41582-020-00426-z
34. Lacy DB, Tepp W, Cohen AC, et al. Crystal structure of botulinum neurotoxin type A and implications for toxicity. Nat Struct Biol. 1998;5(10):898-902. doi: 10.1038/2338
35. LeDoux MS. The genetics of dystonias. Adv Genet. 2012;79:35-85. doi: 10.1016/B978-012-394395-8.00002-5
36. Levi V, Stanziano M, Pinto C, et al. Bilateral Simultaneous Magnetic Resonance-Guided Focused Ultrasound Pallidotomy for Life-Threatening Status Dystonicus. Mov Disord. 2024;39(8):1408-1412. doi: 10.1002/mds.29811
Review
For citations:
Adamova A.E., Krylov A.V. Modern concepts of muscular dystonia. Yakut Medical Journal. 2025;(2):123-127. https://doi.org/10.25789/YMJ.2025.90.26
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