Clinical case, dynamics of the disease in a patient with Emery–Dreyfus muscular dystrophy caused by a mutation in the SYNE2 gene

Emery–Dreyfus muscular dystrophy is a genetically heterogeneous disease with X-linked recessive, autosomal dominant and autosomal recessive forms, which can be caused by mutations in the EMD, LMNA, SYNE1 and SYNE2 genes. Emery–Dreyfus muscular dystrophy caused by a mutation in the SYNE2 gene is characterized by an autosomal dominant mode of inheritance with the onset of clinical symptoms in childhood. This form is characterized primarily by proximal muscle weakness of the upper and lower extremities and cardiac complications. The article describes a patient with Emery–Dreyfus muscular dystrophy caused by a mutation in the SYNE2 gene. The article presents clinical and instrumental examination methods, the dynamics of the course of the disease. During the observation period of 6 months, the patient showed a significant decrease in motor functions — a decrease in the distance of the 6-minute walking test, the ability to walk and move (D1) on the scale “motor function measure”, the results of speed tests. The patient also has a steadily progressive impairment of respiratory and bulbar functions, which requires regular dynamic monitoring, every day monitoring of oxygen saturation, and night and daytime non-invasive artificial ventilation is indicated. Taking into account the literature data and previously described clinical cases, the patient is characterized by a high risk of developing heart rhythm disturbances and dilated cardiomyopathy, which requires proper monitoring at least once every 6 months.