Open AccessProblems of early diagnosis of hereditary neurological diseases
Author(s) -
С. Н. Иллариошкин,
Ю. А. Селиверстов,
С.А. Клюшников
Publication year - 2021
Publication title -
rossijskij vestnik perinatologii i pediatrii
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.139
H-Index - 4
eISSN - 2500-2228
pISSN - 1027-4065
DOI - 10.21508/1027-4065-2021-66-4-8-15
Subject(s) - medicine , disease , genetic counseling , pediatrics , prenatal diagnosis , hereditary diseases , neurological problems , intensive care medicine , pathology , pregnancy , fetus , genetics , biology
Hereditary neurological diseases represent a substantial part of human monogenic disorders. Most of them are progressive, disabling,and lacking disease-modifying therapy. Early diagnosis of severe genetic neurological conditions is essentialfor primaryand secondary prevention, genetic counseling and family planning. Modern methods of prenatal and preimplantation DNA diagnostics significantly reduce the likelihood of havinga sickchild. At the same time, neonatal and selective screening of newborns and young children makes it possible to diagnose hereditary neurological diseases as early as possible and to start pathogenetic therapy, which is currently available for a number of pathologies. The widespreadintroduction of biochemical and molecular diagnostics of the hereditary neurological diseases in patients of various ages, including modern methods of massive parallel sequencing, gives rise to technological, ethical and financial problems.