Work

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

Year: 2025

Type: article

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.

Source: South Russian Journal of Therapeutic Practice

DOI: 10.21886/2712-8156-2025-6-2-93-100

Authors: N. A. Fomina-Chertousova, A. M. Ashibokova, E. S. Pivacheva

Institution: Rostov State Medical University

Language: English

Topic: Genetic Neurodegenerative Diseases

Subfield: Cellular and Molecular Neuroscience

Field: Neuroscience

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: hybrid

OpenAlex ID: W4412365365

FWCI:

Cites: 24

Cited by:

Related to: 10