Myotonic dystrophy type I with a special focus on clinical significance in pregnancy

Myotonic dystrophy type I (MD1) is a complex, slowly progressive multisystem disorder affecting not only muscles but also the eyes, heart, endocrine, reproductive, and central nervous systems. The disease is inherited in an autosomal dominant manner and is characterized by the phenomenon of genetic anticipation. A 34-year-old female patient was hospitalized for evaluation of progressive muscle weakness and hypotrophy. Neurological examination and electrodiagnostic testing revealed typical signs of MD1, confirmed by DNA analysis. The patient has a history of spontaneous miscarriages and prenatal complications, likely resulting from undiagnosed MD1. MD1 during pregnancy can lead to serious complications. Genetic counseling and assisted reproduction options are key to minimizing the risk of disease transmission.