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

Metin Eser; Gulam Hekimoğlu; Büşra Kutlubay

Makale detayları

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

Yazarlar:

Metin Eser | Gulam Hekimoğlu | Büşra Kutlubay

Yayıncı:

Prusa Medical Publishing

Ana Başlıklar:

Gene Expression

Dergi:

The European Research Journal Vol.11 Issue 1, pp.74-79

Belge Tipi:

Makale

Yayın Tarihi:

4/2025

Belge Dili:

İngilizce

Document ID (Org No.):

2001335635

pISSN:

2149-3189

Anahtar kelimeler:

Özet:

 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 n9 and non-DM1 myotonia n13 were categorized by genetic testing. Results: There was a significant difference in the incidence rates of myotonia P0.0001 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 P0.003. 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.

 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 n9 and non-DM1 myotonia n13 were categorized by genetic testing. Results: There was a significant difference in the incidence rates of myotonia P0.0001 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 P0.003. 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.

 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 n9 and non-DM1 myotonia n13 were categorized by genetic testing. Results: There was a significant difference in the incidence rates of myotonia P0.0001 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 P0.003. 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.

 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 n9 and non-DM1 myotonia n13 were categorized by genetic testing. Results: There was a significant difference in the incidence rates of myotonia P0.0001 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 P0.003. 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.

Makale detayları

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

Yazarlar:

Metin Eser | Gulam Hekimoğlu | Büşra Kutlubay

Yayıncı:

Prusa Medical Publishing

Ana Başlıklar:

Gene Expression

Dergi:

The European Research Journal Vol.11 Issue 1, pp.74-79

Belge Tipi:

Makale

Yayın Tarihi:

4/2025

Belge Dili:

İngilizce

Document ID (Org No.):

2001335635

pISSN:

2149-3189

Myotonic dystrophy type 1 (DM1)

DM1 protein kinase gene

myotonia

CTG repeats

Sayı

Makale detayları

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

Yazarlar: Metin Eser | Gulam Hekimoğlu | Büşra Kutlubay

Yayıncı: Prusa Medical Publishing

Ana Başlıklar: Gene Expression

Dergi: The European Research Journal Vol.11 Issue 1, pp.74-79

Belge Tipi: Makale

Yayın Tarihi: 4/2025

Belge Dili: İngilizce

Document ID (Org No.): 2001335635

pISSN: 2149-3189

Myotonic dystrophy type 1 (DM1)

DM1 protein kinase gene

myotonia

CTG repeats

Sayı

Yazarlar:

Metin Eser | Gulam Hekimoğlu | Büşra Kutlubay

Yayıncı:

Prusa Medical Publishing

Ana Başlıklar:

Gene Expression

Dergi:

The European Research Journal Vol.11 Issue 1, pp.74-79

Belge Tipi:

Makale

Yayın Tarihi:

4/2025

Belge Dili:

İngilizce

Document ID (Org No.):

2001335635

pISSN:

2149-3189