Myotonic dystrophy type 2: theories of pathogenesis and clinical diagnostic criteria (description of two clinical cases)

Myotonic dystrophy type 2 is an autosomal dominant neuromuscular disease characterised by slowly progressive muscle weakness and difficulty in muscle relaxation after contraction (myotonia). The disease has a significant impact on the psychological well-being, economic status and overall quality of life of patients. Two clinical cases of myotonic dystrophy type 2 are considered. It is noted that myalgia is the main symptom reducing the quality of life.

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Publication Details

Journal
South Russian Journal of Therapeutic Practice
Published
2025-07-12
DOI
https://doi.org/10.21886/2712-8156-2025-6-2-93-100
Primary Topic
Genetic Neurodegenerative Diseases
Type
article
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article

Myotonic dystrophy type 2: theories of pathogenesis and clinical diagnostic criteria (description of two clinical cases)

N. A. Fomina-Chertousova, E. S. Pivacheva, A. M. Ashibokova
South Russian Journal of Therapeutic Practice
Genetic Neurodegenerative Diseases
article

Myotonic dystrophy type 2: theories of pathogenesis and clinical diagnostic criteria (description of two clinical cases)

N. A. Fomina-Chertousova, E. S. Pivacheva, A. M. Ashibokova
article en

Abstract

Myotonic dystrophy type 2 is an autosomal dominant neuromuscular disease characterised by slowly progressive muscle weakness and difficulty in muscle relaxation after contraction (myotonia). The disease has a significant impact on the psychological well-being, economic status and overall quality of life of patients. Two clinical cases of myotonic dystrophy type 2 are considered. It is noted that myalgia is the main symptom reducing the quality of life.

South Russian Journal of Therapeutic PracticeVol. 6(2)
Rostov State Medical University (RU)
Openalex Percentile: Top 82%
Genetic Neurodegenerative Diseases
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