Анализ первичной диагностики наследственных моторно-сенсорных нейропатий в Республике Башкортостан

Background. Hereditary motor and sensory neuropathies (HMSN, Charcot–Marie–Tooth disease) form genetically heterogenous and clinically polymorphic group of diseases which predominantly affect peripheral nervous system. Correct primary diagnostics of these diseases is a starting point for planning subsequent molecular and genetic diagnostics. Objective . Analysis of primary diagnostics of HMSN for subsequent improvement of specialized medical and genetic help for patients and their families. Materials and methods . We analyzed 260 primary diagnoses of patients referred to a neurogeneticist for consultation and registered in the Genetics Consultation Clinic with the diagnosis of HMSN between 1970 and 2016. Results. A total of 17 variants of referral diagnoses of patients with HMSN were identified. They can be divided into 3 subgroups: hereditary diseases of the nervous and neuromuscular systems, other diseases of the nervous system, diseases of other systems. A correct diagnosis was listed in a little more than half (58.1 %) of all cases of primary referrals. The most common (10.8 %) erroneous referral diagnosis of patients with HMSN was Friedreich’s ataxia. Most of erroneous referral diagnoses could be confidently ruled out at the stage of primary clinical diagnosis and after electroneuromyography. Altogether, in the observed period percentage of correct referral diagnoses increased while the specter of erroneous diagnoses decreased significantly which attests to increased doctors’ awareness of HMSN. Conclusion. In order to improve HMSN diagnostics doctors should pay more attention to analysis of family medical history and perform a clinical examination of all proband’s available relatives.