Dystrophic Myotonia

Dystrophic myotonia type 1 (DM1) is a genetic neuromuscular disease, that affects several body systems. The clinical phenotype of patients with DM1 is highly variable, limiting early diagnosis and treatment. In the present study, we reported a 45-year-old female patient with DM1 with dyspnea as one of the prominent clinical manifestations, reviewed her family history, and reviewed the relevant literature. As a result, it turned out that the ability to determine the type and type of neuromuscular disease based on a correctly collected anamnesis, clinical and paraclinical research methods can reduce the time and costs of genetic research, and the awareness of non-neurological medical specialists about this disease contributes to early diagnosis, timely assistance and, thereby, improving the patient’s quality of life.