Dystrophic Myotonia of Rossolimo - Steinert - Kurshman, Sporadic Case. Clinical Observation
Dystrophic myotonia is a genetically determined neuromuscular disease related to canalopathies (diseases associated with the pathology of the ion channels of the skeletal muscle fiber membranes). Classic signs of myotonia are myotonic phenomena characterized by delayed relaxation of skeletal muscles after arbitrary contraction or electrical stimulation and myotonic discharges detected during clinical examination and needle electromyography, respectively. A typical representative is myotonic dystrophy (or dystrophic myotonia), described at the beginning of the last century by several authors and called Rossolimo-Steinert-Kurschmann disease. This nosological unit is the most common disease of the category of myotonia and the most common form of muscular dystrophy in adults. Myotonia can involve all muscle groups. However, the nature of muscle damage may vary depending on the specific disease. The article describes the etiology, pathogenesis, forms, diagnosis, and basic principles of treatment. A clinical case is described.