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Journals / The European Research Journal / 2026 / Volume: 11 Issue: 1

Myotonia may be a sign that prompts genetic testing for myotonic dystrophy type 1

Metin Eser(Department of Medical Genetics, Ümraniye Training and Research Hospital, University of Health Sciences, Istanbul, Türkiye)0000-0001-7118-7958
Gulam Hekimoğlu(Department of Histology and Embryology, International Faculty of Medicine, University of Health Sciences, Istanbul, Türkiye)0000-0002-5027-6756
Büşra Kutlubay(Department of Pediatrics Neurology, Ümraniye Training and Research Hospital, University of Health Sciences, Istanbul, Türkiye)0000-0002-6216-1438
Pages
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Publication Date
2025-01-04
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

Conclusion: Genetic counseling is crucial for understanding disease variability, aiding in better DM1 management.

📌 3 Key Takeaways

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Objective & Hypothesis:Objectives: Myotonic dystrophy type 1 (DM1) is an autosomal dominant disorder characterized by myotonia, atrophy, and muscle weakness.
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Key Findings & Data:Even though myotonic discharges can be shown on electromyography in DM1 instances, it is still difficult to distinguish DM1 clinically from other myotonic disorders.
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Conclusion & Impact:Conclusion: Genetic counseling is crucial for understanding disease variability, aiding in better DM1 management.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Myotonic dystrophy type 1 (DM1) · DM1 protein kinase gene · myotonia

Abstract

Objectives: Myotonic dystrophy type 1 (DM1) is an autosomal dominant disorder characterized by myotonia, atrophy, and muscle weakness. Even though myotonic discharges can be shown on electromyography in DM1 instances, it is still difficult to distinguish DM1 clinically from other myotonic disorders. We aimed to examine the relationship between DM1 and myotonia. Methods: Data from 22 patients who had myotonia were analyzed retrospectively. Patients with DM1 (n=9) and non-DM1 myotonia (n=13) were categorized by genetic testing. Results: There was a significant difference in the incidence rates of myotonia (P=0.0001) between 8 out of 9 DM1 patients (89%) and 1 out of 13 non-DM1 (8%). Myotonic discharges were seen in 7 of the 9 DM1 (78%) patients. On the other hand, only 2 out of 13 (15%) patients with non-DM1 had myotonic discharges. There was a statistically significant difference in the incidence rates across the groups (P=0.003). In this study, we also encountered three siblings with DM1. We observed myotonia and muscle weakness in the twins, indicating there is a possibility of anticipation being seen in their grandchildren in the future. Conclusion: Genetic counseling is crucial for understanding disease variability, aiding in better DM1 management.

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Cite This Article

Eser, M., Hekimoğlu, G., Kutlubay, B. (2025). Myotonia may be a sign that prompts genetic testing for myotonic dystrophy type 1. The European Research Journal, Volume: 11 Issue: 1. https://doi.org/10.18621/eurj.1553885

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