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А rare clinical case of pregnancy and childbirth in a patient with an implanted neurostimulator for Оppenheim torsion dystonia (DYT-1)

https://doi.org/10.21518/ms2023-098

Abstract

The problems of planning, follow-up of pregnancy and childbirth in women with inherited extrapyramidal neurological disorders, including torsion dystonia, are represented by isolated cases and receive little literature coverage. Dystonia is a rare disease, the incidence of its various types is 300–400 patients per million (0.03%). Idiopathic torsion dystonia is a group of genetically determined hyperkinetic disorders, which refers to an extrapyramidal pathology of the central nervous system with a progressive course of the disease. This article presents the case follow-up of pregnancy and childbirth in a patient with torsion dystonia and chronic neurostimulation 1.5 years after implantation of the ActivaRC neurostimulation system without drug therapy. The patient has given birth via elective caesarean section while receiving neurostimulation via the ActivaRC system. This clinical observation shows that the physiological course of pregnancy in patients with this diagnosis is possible in case of its advance planning and correction of the DBS programming. A multidisciplinary approach to the management of a patient with generalized torsion dystonia and chronic neurostimulation made it possible to achieve a favourable pregnancy outcome for both mother and fetus. Follow-up of pregnancy in such patients requires a correction of the DBS programming and choosing the optimal timing and method for delivery. The routine follow-up clinical examination by a neurologist should be carried out both in the planning stage and throughout the entire period of pregnancy (end of the first trimester, weeks 21–23, 32–34), as well as in the postpartum period. 

About the Authors

A. V. Tkach
Institute “Medical Academy named after S.I. Georgievsky”, Crimean Federal University named after V.I. Vernadsky; Crimean Scientific and Practical Center for Narcology
Russian Federation


A. N. Sulima
Institute “Medical Academy named after S.I. Georgievsky”, Crimean Federal University named after V.I. Vernadsky; Simferopol Clinical Maternity Hospital No. 1
Russian Federation


V. V. Tkach
Institute “Medical Academy named after S.I. Georgievsky”, Crimean Federal University named after V.I. Vernadsky; Perinatal Center of the Republican Clinical Hospital named after N.A. Semashko
Russian Federation


T. Yu. Babich
Institute “Medical Academy named after S.I. Georgievsky”, Crimean Federal University named after V.I. Vernadsky; Perinatal Center of the Republican Clinical Hospital named after N.A. Semashko
Russian Federation


S. R. Suleymanova
Institute “Medical Academy named after S.I. Georgievsky”, Crimean Federal University named after V.I. Vernadsky; Perinatal Center of the Republican Clinical Hospital named after N.A. Semashko
Russian Federation


References

1. Ozturk G., Kadiroğulları P. Management of Pregnancy and Childbirth in a Cervical Dystonia Patient with an Implanted Deep Brain Stimulation System: A Case Report. Ann Indian Acad Neurol. 2022;25(1):121–123. https://doi.org/10.4103/aian.aian_151_21.

2. Paluzzi A., Bain P.G., Liu X., Yianni J., Kumarendran K., Aziz T.Z. Pregnancy in dystonic women with in situ deep brain stimulators. Mov Disord. 2006;21(5):695–698. https://doi.org/10.1002/mds.20777.

3. Nageshwaran S., Nageshwaran S., Edwards M.J., Morcos M. Management of DYT1 dystonia throughout pregnancy. BMJ Case Rep. 2011:bcr0520114214. https://doi.org/10.1136/bcr.05.2011.4214.

4. Levin O.S., Shtulman D.R. Neurology. 10th ed. Moscow: MEDpress-inform; 2016. 1024 p. (In Russ.)

5. Illarioshkin S.N., Ivanova-Smolenskaya I.A. Trembling hyperkinesis. Moscow: Atmosfera; 2011. 360 p. (In Russ.)

6. Golubev V.L. Dystonia. Medical Journal of the Russian Federation. 2007;(1):22–28. (In Russ.) Available at: https://www.elibrary.ru/item.asp?id=9474795.

7. Albanese A., Asmus F., Bhatia K.P., Elia A.E., Elibol B., Filippini G. et al. EFNS guidelines on diagnosis and treatment of primary dystonias. Eur J Neurol. 2011;18(1):5–18. https://doi.org/10.1111/j.1468-1331.2010.03042.x.

8. Opal P., Tintner R., Jankovic J., Leung J., Breakefield X.O., Friedman J., Ozelius L. Intrafamilial phenotypic variability of the DYT1 dystonia: from asymptomatic TOR1A gene carrier status to dystonic storm. Mov Disord. 2002;17(2):339–345. https://doi.org/10.1002/mds.10096.

9. Grundmann K., Laubis-Herrmann U., Bauer I., Dressler D., Vollmer-Haase J., Bauer P. et al. Frequency and phenotypic variability of the GAG deletion of the DYT1 gene in an unselected group of patients with dystonia. Arch Neurol. 2003;60(9):1266–1270. https://doi.org/10.1001/archneur.60.9.1266.

10. Rostasy K., Augood S.J., Hewett J.W., Leung J.C., Sasaki H., Ozelius L.J. et al. TorsinA protein and neuropathology in early onset generalized dystonia with GAG deletion. Neurobiol Dis. 2003;12(1):11–24. https://doi.org/10.1016/s0969-9961(02)00010-4.

11. Dang M.T., Yokoi F., McNaught K.S., Jengelley T.A., Jackson T., Li J., Li Y. Generation and characterization of Dyt1 DeltaGAG knock-in mouse as a model for early-onset dystonia. Exp Neurol. 2005;196(2):452–463. https://doi.org/10.1016/j.expneurol.2005.08.025.

12. Shashidharan P., Sandu D., Potla U., Armata I.A., Walker R.H., McNaught K.S. et al. Transgenic mouse model of early-onset DYT1 dystonia. Hum Mol Genet. 2005;14(1):125–33. https://doi.org/10.1093/hmg/ddi012.

13. Goodchild R.E., Kim C.E., Dauer W.T. Loss of the dystonia-associated protein torsinA selectively disrupts the neuronal nuclear envelope. Neuron. 2005;48(6):923–932. https://doi.org/10.1016/j.neuron.2005.11.010.

14. Albanese A., Bhatia K., Bressman S.B., Delong M.R., Fahn S., Fung V.S. et al. Phenomenology and classification of dystonia: a consensus update. Mov Disord. 2013;28(7):863–873. https://doi.org/10.1002/mds.25475.

15. Erro R., Rubio-Agusti I., Saifee T.A., Cordivari C., Ganos C., Batla A., Bhatia K.P. Rest and other types of tremor in adult-onset primary dystonia. J Neurol Neurosurg Psychiatry. 2014;85(9):965–968. https://doi.org/10.1136/jnnp2013-305876.

16. Batla A. Dystonia: A review. Neurol India. 2018;66(Suppl.):S48–S58. https://doi.org/10.4103/0028-3886.226439.

17. Stamelou M., Edwards M.J., Hallett M., Bhatia K.P. The non-motor syndrome of primary dystonia: clinical and pathophysiological implications. Brain. 2012;135(Pt 6):1668–1681. https://doi.org/10.1093/brain/awr224.

18. Kuyper D.J., Parra V., Aerts S., Okun M.S., Kluger B.M. Nonmotor manifestations of dystonia: a systematic review. Mov Disord. 2011;26(7):1206–1217. https://doi.org/10.1002/mds.23709.

19. Yang J., Shao N., Song W., Wei Q., Ou R., Wu Y., Shang H.F. Nonmotor symptoms in primary adult-onset cervical dystonia and blepharospasm. Brain Behav. 2016;7(2):e00592. https://doi.org/10.1002/brb3.592.

20. Ziman N., Coleman R.R., Starr P.A., Volz M., Marks W.J. Jr, Walker H.C. et al. Pregnancy in a Series of Dystonia Patients Treated with Deep Brain Stimulation: Outcomes and Management Recommendations. Stereotact Funct Neurosurg. 2016;94(1):60–65. https://doi.org/10.1159/000444266.


Review

For citations:


Tkach AV, Sulima AN, Tkach VV, Babich TY, Suleymanova SR. А rare clinical case of pregnancy and childbirth in a patient with an implanted neurostimulator for Оppenheim torsion dystonia (DYT-1). Meditsinskiy sovet = Medical Council. 2023;(5):142-147. (In Russ.) https://doi.org/10.21518/ms2023-098

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