Central Asian Journal of Pediatrics

Central Asian Journal of Pediatrics


Hereditary motor and sensory neuropathies (HMSN) is a large group of clinically and genetically heterogeneous diseases of the peripheral nervous system, the prevalence of which is 1: 3000 people. Currently, more than 50 loci are known and more than 30 genes responsible for the development of HMSN have been discovered. Presented modern classification of HMSN. The article discusses the modern methods of diagnosis of hereditary motor-sensory neuropathies (HMSN). Thus, to date, the issues of the sequence of molecular genetic examination of patients with HMSN are particularly relevant.

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