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Zalyalova Z.A.

Kazan State Medical University;
Center for Scientific Medicine «Sikhat»

Khabibrakhmanov A.N.

Kazan State Medical University

Dystonia caused by a mutation in the KMT2B gene

Authors:

Zalyalova Z.A., Khabibrakhmanov A.N.

More about the authors

Journal: S.S. Korsakov Journal of Neurology and Psychiatry. 2025;125(12): 249‑252

DOI: 10.17116/jnevro2025125121249

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Table of contents

DYSTONIA CAUSED BY A MUTATION IN THE KMT2B GENE
DYSTONIA CAUSED BY A MUTATION IN THE KMT2B GENE

To cite this article:

Zalyalova ZA, Khabibrakhmanov AN. Dystonia caused by a mutation in the KMT2B gene. S.S. Korsakov Journal of Neurology and Psychiatry. 2025;125(12):249‑252. (In Russ.)
https://doi.org/10.17116/jnevro2025125121249

Подписка 2026 Журнал неврологии и психиатрии им. С.С. Корсакова (S.S. Korsakov Journal of Neurology and Psychiatry)
МСФ на ЯМ
Использование инфографики авторами научных работ
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Abstract:

Dystonia due to the KMT2B mutation (DYT-KMT2B) is a relatively common cause of progressive generalized dystonia in children; it can potentially account for up to 10—20% of cases of generalized dystonia with early onset. However, only one case of DYT-KMT2B has been reported In Russia to date. Determining the genetic variant and assessing clinical manifestations can help identify this dystonia and determine the indications for drug treatment, including botulinum therapy and neurosurgical intervention. We present a clinical case of a girl with a DYT-KMT2B onset at the age of 6 years and a review of the literature.

Keywords:

generalized dystonia
childhood
KMT2B
botulinum therapy
deep brain stimulation
delayed speech development

Authors:

Zalyalova Z.A.

Kazan State Medical University;
Center for Scientific Medicine «Sikhat»

Khabibrakhmanov A.N.

Kazan State Medical University

Received:

02.08.2025

Accepted:

15.08.2025

Close metadata

References:

  1. Zech M, Boesch S, Maier EM, et al. Haploinsufficiency of KMT2B, Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized Dystonia. Am J Hum Genet. 2016;99:1377-1387. https://doi.org/10.1016/j.ajhg.2016.10.010
  2. Meyer E, Carss KJ, Rankin J, et al. Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia. Nat Genet. 2017;49:223-237.  https://doi.org/10.1038/ng.3740
  3. Zalialova ZA. Current classifications of dystonies, treatment strategy. S.S. Korsakov Journal of Neurology and Psychiatry. 2013;113(3):85-89. (In Russ.).
  4. Carecchio M, Invernizzi F, Gonzàlez-Latapi P, et al. Frequency and phenotypic spectrum of KMT2B dystonia in childhood: A single-center cohort study. Mov Disord Off J Mov Disord Soc. 2019;34:1516-1527. https://doi.org/10.1002/mds.27771
  5. Lohmann K, Klein C. Update on the Genetics of Dystonia. Curr Neurol Neurosci Rep. 2017;17:26.  https://doi.org/10.1007/s11910-017-0735-0
  6. Cif L, Demailly D, Lin J-P, et al. KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation. Brain. 2020;143:3242-3261. https://doi.org/10.1093/brain/awaa304
  7. Abela L, Kurian MA. KMT2B-Related Dystonia. 2018 (Updated 2022). In: Adam MP, Feldman J, Mirzaa GM, et al. (eds.). GeneReviews®. Seattle (WA): University of Washington, Seattle, 1993—2025. https://www.ncbi.nlm.nih.gov/books/NBK493766/
  8. Gorman KM, Meyer E, Kurian MA. Review of the phenotype of early-onset generalised progressive dystonia due to mutations in KMT2B. Eur J Paediatr Neurol EJPN Off J Eur Paediatr Neurol Soc. 2018;22:245-256.  https://doi.org/10.1016/j.ejpn.2017.11.009
  9. Monfrini E, Ciolfi A, Cavallieri F, et al. Adult-onset KMT2B-related dystonia. Brain Commun. 2022;4:fcac276. https://doi.org/10.1093/braincomms/fcac276
  10. Shimazaki R, Ikezawa J, Okiyama R, et al. Dystonic Tremor in Adult-onset DYT-KMT2B. Intern Med Tokyo Jpn. 2022;61:2357-2360. https://doi.org/10.2169/internalmedicine.8700-21
  11. Bulanova VA, Bykanova MA, Kuleva NA. Dystonia type 28 with early onset (DYT-KMT2B): a clinical case. Russkii Zhurnal Detskoi Nevrologii. 2022;17(3):79-84. (In Russ.). https://doi.org/10.17650/2073-8803-2022-17-3-79-84
  12. Tisch S, Kumar KR. Pallidal Deep Brain Stimulation for Monogenic Dystonia: The Effect of Gene on Outcome. Front Neurol. 2020;11:630391. https://doi.org/10.3389/fneur.2020.630391
  13. Winslow N, Maldonado A, Zayas-Rodriguez L, et al. Adult-Onset KMT2B-Related Dystonia Responsive to Deep Brain Stimulation. Mov Disord Clin Pract. 2020;7:992-993.  https://doi.org/10.1002/mdc3.13093
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