ANALYSIS OF PRIMARY DIAGNOSIS OF MYOTONIC DYSTROPHY TYPE I IN THE REPUBLIC OF BASHKORTOSTAN
Myotonic dystrophy type 1 (DM1) is a hereditary neuromuscular disease caused by expansion of CTG trinucleotide repeats in DMPK gene (19q13.32).We have analyzed 84 initial diagnoses of patients sent for consultion to a specialist on neurogenetics and registered with DM1diagnosis at genetic consultation over the period from 1970 to 2016.There were registered 16 variants of directional diagnosis of the patients with DM1 who were subdivided into three groups: hereditary diseases of nervous and neuromuscular systems, other diseases of nervous system, diseases of other systems. The diagnosis was correct in a half of all the cases of the initial referrals (63.1%). The most frequent mistaken directional diagnosis of the patients with DM1 was hereditary motor and sensory neuropathy (8.33%) and taking into account a polyneuropathy syndrome diagnosis it’s total amount is 10.71%. The majority of the mistaken directional diagnosis could be confidently left out in an initial clinical diagnostics or after electroneuromyography. As a whole, the percentage of the directional diagnosis increased and also a spectrum of mistaken diagnosis essentially decreased over observed period that indicates increasing of informativeness of doctors about DM1. For further improvement of DM1 diagnostics practicing doctors should pay more attention to family anamnesis analysis with clinical examination of all accessible proband’s relatives.