Hereditary motor-sensory neuropathies belong to a heterogeneous group of diseases characterized by damage to peripheral nerves, leading to early disability and a decrease in the quality of life. Diagnosis of the disease largely depends on medical genetic counseling and prenatal DNA diagnostics. Currently, 60 genes responsible for the development of hereditary motosensory neuropathies have been mapped. However, a clinically diagnosed diagnosis using expensive DNA diagnostics is not always confirmed by molecular genetic testing.