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Afterdischarges in myotonic dystrophy type 1

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Abstract

Objective

Electrodiagnostic testing is an important screening test for myotonic dystrophy type 1 (DM1). Although myotonic discharges are observed on electromyography in cases of DM1, it is difficult to distinguish DM1 from other myotonic disorders clinically. In the present study, afterdischarges, another type of pathological potential revealed by electrodiagnostic testing, were analyzed, and their role in distinguishing DM1 from other myotonic disorders was explored.

Methods

Data from 33 patients with myotonic discharges on electromyography were analyzed retrospectively. According to gene testing, the patients were divided into DM1 (n = 20) and non-DM1 myotonia (n = 13) groups. Afterdischarges were investigated by retrospectively evaluating the electrodiagnostic findings of motor nerve conduction studies, F-waves, and repetitive nerve stimulations.

Results

Afterdischarges were observed in 17 of the 20 patients with DM1, with an occurrence rate of approximately 85%. However, afterdischarges were absent in all patients with non-DM1 myotonia. There were significant differences in the occurrence rate between the two groups (P < 0.01).

Conclusion

Afterdischarges may serve as a suggestive role in clinical diagnosis of DM1. The discovery that DM1 can present with afterdischarges may pave a new way to study the pathogenesis of DM1.

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Data availability

The data used to support the findings of this study are available from the corresponding author upon request.

Abbreviations

DM1:

Myotonic dystrophy type 1

DMPK:

Dystrophia myotonica protein kinase

EMG:

Electromyography

NCS:

Nerve conduction study

EDx:

Electrodiagnostic

RNS:

Repetitive nerve stimulation

CMAP:

Compound-muscle action potential

PC:

Paramyotonia congenita

VGKC:

Voltage-gated potassium channel

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Author information

Authors and Affiliations

  1. Electromyography Room, Department of Neurology, Shandong Provincial Hospital Affiliated to Shandong First Medical University, 324 Jingwu Road, Jinan, Shandong, China

    Li Yang & Xiuying Chen

  2. Department of Neurology, Shandong Provincial Hospital Affiliated to Shandong First Medical University, 324 Jingwu Road, Jinan, Shandong, China

    Rui Wu

Authors
  1. Li Yang
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  2. Xiuying Chen
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  3. Rui Wu
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Contributions

LY: research conception and design, article writing.

XC and RW: article data provision.

Corresponding author

Correspondence to Li Yang.

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Ethical approval

The study design was approved by the appropriate ethics review board and the need for informed consent was waived. We have read and understood your journal’s policies, and we believe that neither the manuscript nor the study violates any of these.

Informed consent

According to the regulations of the Biomedical Research Ethical Committee of Shandong Provincial Hospital, the retrospective studies can exempt informed consent.

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The authors declare no competing interests.

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Cite this article

Yang, ., Chen, X. & Wu, R. Afterdischarges in myotonic dystrophy type 1. Neurol Sci 45, 735–740 (2024). https://doi.org/10.1007/s10072-023-07013-2

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  • DOI: https://doi.org/10.1007/s10072-023-07013-2

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