Problems of early diagnosis of hereditary neurological diseases

Abstract

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.