Monogenic diseases. Inherent diseases of CNS

Abstract

Classification of monogenic pathology. There are several classifications of monogenic diseases. They are based on the following principles: genetic, clinical and pathogenetic. Depending on which system is most affected, hereditary diseases of skin, eyes, nervous system, endocrine, musculoskeletal, neuromuscular system, blood, cardiovascular system, gastrointestinal tract, nephrourinary system and others are emphasised. There are special terms for some groups of diseases: neurogenetics, oncogenetics, ophtalmogenetics, dermatogenetics and others. Conditionality of such classification generates no doubt because in some patients the same diseases manifest in different ways. For example, cystic fibrosis can occur mostly involving the gastrointestinal tract or lungs