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.
Authors
- N. A. Fomina-Chertousova (ORCID: https://orcid.org/0000-0003-4246-2097)
- E. S. Pivacheva
- A. M. Ashibokova
Institutions
- Rostov State Medical University (RU)
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
- Field-Weighted Citation Impact
- 0.00