Clinical and genetic characteristics of congenital muscular dystrophies (Part 1)
https://doi.org/10.17650/2222-8721-2020-10-1-10-21
Abstract
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.
About the Authors
P. A. Chausova
Research Centre for Medical Genetics named after academician N. P. Bochkov
Russian Federation
Moskvorech’e St., Moscow 115522, Russia
Russian Federation
Moskvorech’e St., Moscow 115522, Russia
O. P. Ryzhkova
Research Centre for Medical Genetics named after academician N. P. Bochkov
Russian Federation
Moskvorech’e St., Moscow 115522, Russia
Russian Federation
Moskvorech’e St., Moscow 115522, Russia
A. V. Polyakov
Research Centre for Medical Genetics named after academician N. P. Bochkov
Russian Federation
Moskvorech’e St., Moscow 115522, Russia
Russian Federation
Moskvorech’e St., Moscow 115522, Russia
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Review
For citations:
Chausova P.A., Ryzhkova O.P., Polyakov A.V. Clinical and genetic characteristics of congenital muscular dystrophies (Part 1). Neuromuscular Diseases. 2020;10(1):10-21. (In Russ.) https://doi.org/10.17650/2222-8721-2020-10-1-10-21
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