A difficult path to the diagnosis of hereditary polysystemic diseases as an example of a clinical case

Abstract

Hereditary diseases are often polysystemic due to the pleiotropic action of genes. There are many examples: Wilson-Konovalov disease, Marfan syndrome, many neuromuscular diseases. One of these diseases is Emery-Dreyfus muscular dystrophy (DMED). A clinical case is described when the boy was diagnosed only at the age of 18. The lack of awareness of doctors about hereditary diseases with an increased risk of SCD leads to their extremely late diagnosis or fatal outcome amid high loads, which are often the case with athletes and military servicemen. It is necessary to significantly expand the training program in residency and on the cycles of improvement of doctors in the direction of hereditary diseases in each specialty.