The site of the Media Sphera Publishers contains materials intended solely for healthcare professionals.
By closing this message, you confirm that you are a certified medical professional or a student of a medical educational institution.

Login
EN
+7 (495) 482-4118
+7 (495) 482-0604
+8 800 250-18-12
  • (toll-free number for subscriptions)
    Mon-Fri from 10 a.m. to 6 p.m.

  • © 1998-2025
+7 (495) 482-43-29
EN
All journals
Journal
Year
Year
Search result: 0

Rushkevich Yu.N.

Republican Scientific and Practical Center of Neurology and Neurosurgery

Gusina A.A.

Republican Scientific and Practical Center «Mother and Child»

Malgina E.V.

Republican Scientific and Practical Center of Neurology and Neurosurgery

Likhachev S.A.

Republican Scientific Practical Center of Neurology and Neurosurgery

Antonenko D.A.

Republican Research and Clinical Center of Neurology and Neurosurgery

Phenomenon of anticipation in a patient with dystrophic myotonia type 1

Authors:

Rushkevich Yu.N., Gusina A.A., Malgina E.V., Likhachev S.A., Antonenko D.A.

More about the authors

Journal: S.S. Korsakov Journal of Neurology and Psychiatry. 2025;125(5): 131‑136

DOI: 10.17116/jnevro2025125051131

Read: 413 times

Buy for 300₽
Contact the author
Table of contents

PHENOMENON OF ANTICIPATION IN A PATIENT WITH DYSTROPHIC MYOTONIA TYPE 1
PHENOMENON OF ANTICIPATION IN A PATIENT WITH DYSTROPHIC MYOTONIA TYPE 1

To cite this article:

Rushkevich YuN, Gusina AA, Malgina EV, Likhachev SA, Antonenko DA. Phenomenon of anticipation in a patient with dystrophic myotonia type 1. S.S. Korsakov Journal of Neurology and Psychiatry. 2025;125(5):131‑136. (In Russ.)
https://doi.org/10.17116/jnevro2025125051131

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
Recommended articles:
Breathing diso­rders during sleep in patients with dystrophic myotonia. S.S. Korsakov Journal of Neurology and Psychiatry. 2024;(12):137-141
Abstract:

The article presents the authors’ clinical observation of a patient with genetically confirmed dystrophic myotonia type 1 and describes the phenomenon of anticipation associated with an increase in the severity of symptoms, an earlier onset of the disease in each subsequent generation, and due to an increasing expansion and the sex of the parent transmitting the mutation. In the described family case, dystrophic myotonia type 1 was observed in four generations. It was inherited through the maternal line as an increase in the number of trinucleotide repeats in the DMPK gene and the severity of clinical symptoms in patients.

Keywords:

hereditary neuromuscular diseases
trinucleotide repeat disorders
dynamic mutations
DMPK

Authors:

Rushkevich Yu.N.

Republican Scientific and Practical Center of Neurology and Neurosurgery

Gusina A.A.

Republican Scientific and Practical Center «Mother and Child»

Malgina E.V.

Republican Scientific and Practical Center of Neurology and Neurosurgery

Likhachev S.A.

Republican Scientific Practical Center of Neurology and Neurosurgery

Antonenko D.A.

Republican Research and Clinical Center of Neurology and Neurosurgery

Received:

07.11.2023

Accepted:

01.02.2025

Close metadata

References:

  1. Gorbunova VN, Savel’eva-Vasil’eva EA, Krasil’nikov VV. Miotonicheskaja distrofija. Molekuljarnaja nevrologija. Chast’ 1. Zabolevanija nervno-myshechnoj sistemy. SPb.: Intermedika; 2000:169-181. (In Russ.).
  2. Udd B, Krahe R. The myotonic dystrophies: molecular, clinical, and therapeutic challenges. Lancet Neurol 2012;11(10):891-905.  https://doi.org/10.1016/S1474-4422(12)70204-1
  3. Husebye S, Rebne C, Stokland A, et al. A hospital based epidemiological study of genetically determined muscle disease in south western Norway. Neuromuscul Disord. 2020;30(3):181-185. 
  4. Siciliano G, Manca M, Gennarelli M, et al. Epidemiology of myotonic dystrophy in Italy: re-apprisal after genetic diagnosis. Clinical Genetics. 2001;59(5):344-349.  https://doi.org/10.1164/ajrccm.163.1.2001008
  5. Marchini C, Lonigro C, Verriello L, et al. Correlations between individual clinical manifestations and CTG repeat amplification in myotonic dystrophy. Clinical Genetics. 2000;57:74-82.  https://doi.org/10.1034/j.1399-0004.2000.570112.x
  6. Meng Y, Shen H, Zhao Z, et al. Optimization PCR for Detection CTG/CCTG-Repeat Expansions in the Diagnosis of Myotonic Dystrophies. Annals of Clinical & Laboratory Science. 2015;45(5):502-507. 
  7. Radvansky J, Ficek A, Kadasi L. Repeat-primed polymerase chain reaction in myotonic dystrophy type 2 testing. Genetic Testing and Molecular Biomarkers. 2011;15(3):133-136.  https://doi.org/10.1089/gtmb.2010.0127
  8. Davis B, McCurrach M, Taneja K, et al. Expansion of a CUG trinucleotide repeat in the 3’ untranslated region of myotonic dystrophy protein kinase transcripts results in nuclear retention of transcripts. Proceedings of the National Academy of Sciences. 1997;94(14):7388-7393. https://doi.org/10.1073/pnas.94.14.7388
  9. Illarioshkin SN, Ivanova-Smolenskaja IA, Markova ED. DNK-diagnostika i mediko-geneticheskoe konsul’tirovanie v nevrologii. M.: Medicinskoe informacionnoe agenstvo; 2002:60-74. (In Russ.).
  10. Morales F, Vásquez M, Cuenca P, et al. Parental age effects, but no evidence for an intrauterine effect in the transmission of myotonic dystrophy type 1. European Journal of Human Genetics. 2015;23(5):646-653.  https://doi.org/10.1038/ejhg.2014.138
  11. Brunner H, Jansen G, Nillesen W, et al. Brief report: reverse mutation in myotonic dystrophy. New England Journal of Medicine. 1993;328(7):476-480.  https://doi.org/10.1056/nejm199302183280705
  12. Soltanzadeh P. Myotonic Dystrophies: A Genetic Overview. Genes (Basel). 2022;13(2):367.  https://doi.org/10.3390/genes13020367
  13. Joosten I, Hellebrekers D, de Greef B, et al. Parental repeat length instability in myotonic dystrophy type 1 pre- and protomutations. European Journal of Human Genetics. 2020;28(7):956-962.  https://doi.org/10.1038/s41431-020-0601-4
  14. Zabnenkova VV, Galeeva NM, Chuhrova AL, et al. Myotonic dystrophy types 1 and 2:15 years of experience in DNA diagnostics at the FSBI MGNC FANO of Russia. Medicinskaya genetika. 2018;17(12):44-51. (In Russ.).
  15. Ivanova EO, Moskalenko AN, Fedotova EJu, et al. Myotonic dystrophy: genetics and polymorphism of clinical manifestations Annaly klinicheskoj i jeksperimental’noj nevrologii. 2019;13(1):15-25. (In Russ.
  16. Koch M, Grimm T, Harley H, Harper P. Genetic risks for children of women with myotonic dystrophy. The American Journal of Human Genetics. 1991;48(6):1084-1091.
  17. Paulson H. Protein fate in neurodegenerative proteinopathies: polyglutamine diseases join the (mis)fold. The American Journal of Human Genetics. 1999;64(2):339-345.  https://doi.org/10.1086/302269
  18. Tieleman A, Knuijt S, van Vliet J, et al. Dysphagia is present but mild in myotonic dystrophy type 2. Neuromuscular Disorders. 2009;19(3):196-198.  https://doi.org/10.1016/j.nmd.2008.12.002
  19. Harper P, van Engelen B, Eymard B, et al. 99th ENMC international workshop: myotonic dystrophy: present management, future therapy. 9-11 November 2001, Naarden, The Netherlands. Neuromuscular Disorders. 2002;12(6):596-599.  https://doi.org/10.1016/s0960-8966(02)00020-2
  20. Hoxhaj D, Pascazio A, Maestri M, et al. Excessive daytime sleepiness in myotonic dystrophy: a narrative review. Frontiers in Neurology. 2024;15:1-6.  https://doi.org/10.3389/fneur.2024.1389949
  21. Arsenault M, Prévost C, Lescault A, et al. Clinical characteristics of myotonic dystrophy type 1 patients with small CTG expansions. Neurology. 2006;66(8):1248-1250. https://doi.org/10.1212/01.wnl.0000208513.48550.08
  22. Shnajder NA. Clinical and diagnostic criteria of myotonia. Sibirskoe medicinskoe obozrenie. 2016;3:95-101. (In Russ.).
  23. Stecenko TI. Myotonic dystrophy. Modern representation and own observation. Sovremennaya pediatriya. 2014;1(57):64-67. 
  24. Okkersen K, Monckton D, Le N, et al. Brain imaging in myotonic dystrophy type 1: A systematic review. Neurology. 2017;89(9):960-969.  https://doi.org/10.1212/wnl.0000000000004300
  25. Kornblum C, Reul J, Kress W, et al. Cranial magnetic resonance imaging in genetically proven myotonic dystrophy type 1 and 2. Journal of Neurology. 2004;251(6):710-714.  https://doi.org/10.1007/s00415-004-0408-1
  26. Pascual-Gilabert M, López-Castel A, Artero R. Myotonic dystrophy type 1 drug development: A pipeline toward the market. Drug discovery today. 2021;26(7):1765-1772. https://doi.org/10.1016/j.drudis.2021.03.024
Contact the author
Email
Message
The publishing house "Media Sphere" does not provide treatment services, does not give recommendations on contacting medical institutions and specific specialists, on the prescription of medicines and dietary supplements.

Email Confirmation

An email was sent to test@gmail.com with a confirmation link. Follow the link from the letter to complete the registration on the site.

Email Confirmation

Contact us
If you have any questions, complaints or suggestions, please use this feedback form.
Email
Message
The publishing house "Media Sphere" does not provide treatment services, does not give recommendations on contacting medical institutions and specific specialists, on the prescription of medicines and dietary supplements.
Submit Application

You can become an author of one of our magazines, send a request and we will consider it in during the day.

Name
Phone
E-mail
Message
Login
Registration
E-mail
Password
Forgot Password?

Log in to the site using your account in one of the services

Password recovery
E-mail
Login
Register

We use cооkies to improve the performance of the site. By staying on our site, you agree to the terms of use of cооkies. To view our Privacy and Cookie Policy, please. click here.