Open AccessClinical and genetic characteristics of congenital muscular dystrophies (Part 1)
Author(s) -
П. А. Чаусова,
О. П. Рыжкова,
А. В. Поляков
Publication year - 2020
Publication title -
nervno-myšečnye bolezni
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.139
H-Index - 3
eISSN - 2413-0443
pISSN - 2222-8721
DOI - 10.17650/2222-8721-2020-10-1-10-21
Subject(s) - congenital muscular dystrophy , muscular dystrophy , hypotonia , medicine , etiology , neuromuscular disease , weakness , disease , clinical significance , bioinformatics , muscle weakness , pediatrics , pathology , biology , anatomy
Congenital muscular dystrophy is an extremely heterogeneous group of hereditary neuromuscular diseases that are clinically characterized by muscular hypotonia, progressive muscle weakness, and dystrophic changes in the muscles. Overlapping clinical symptoms and many genes that have to be analyzed to determine the specific form of the disease in the patient make diagnosis difficult. The molecular genetic stage of diagnosis includes many different methods depending on the clinical hypothesis and their application has not lost its relevance even in the era of massive parallel sequencing. In addition to DNA sequence analysis, the analysis of muscle protein expression can also play a significant role in the diagnosis of congenital muscular dystrophy. In the review, we will consider the most important etiological, pathophysiological, clinical and laboratory data of the main forms of congenital muscular dystrophy known today.