New classification of limb-girdle muscular dystrophy

Abstract

A new classification of limb‑girdle muscular dystrophy, which was adopted in 2018, is given. The reasons why there was a need to revise the classification are indicated. A new definition of this pathology is given. The diseases that were excluded from the new classification of limb‑girdle muscular dystrophy due to inconsistency with the new definition of this form of pathology are given. A comparison of the new and old classification of this group of muscular dystrophies is given. The genes responsible for the development of various forms of this pathology are indicated, as well as proteins of striated musculature, the synthesis of which is disrupted. It has been shown that a mutation in one gene can lead to different types of inheritance of limb‑girdle muscular dystrophy, which is important to take into account when conducting prenatal diagnostics. The new classification will allow introducing new forms of this pathology as new mutations in disease genes are detected.