Сongenital merozin-negative muscular dystrophy: from diagnosis to treatment prospects

Abstract

Congenital merosin-deficient muscular dystrophy is an autosomal recessive form of muscular dystrophy characterized by muscle weakness that manifests itself at birth or in the first 6 months of life. The cause of this disease is a deficiency or complete absence of the merosin protein encoded by the LAMA2 gene. To date, there is no pathogenetic therapy for this disease, but various approaches for the treatment of MDCA1 are being actively developed around the world, and it is quite possible that an affordable therapy will exist in the near future. Therefore, today it is important to know the existing range of pathogenic variants characteristic of the Russian population, the most appropriate diagnostic methods and differential diagnosis with other neuromuscular diseases.