Annals of Clinical and Experimental NeurologyAnnals of Clinical and Experimental Neurology2075-54732409-2533Research Center of Neurology57410.25692/ACEN.2019.1.2UnknownMyotonic dystrophy: genetics and clinical polymorphismIvanovaEkaterina O.kate-fileo@mail.ruMoskalenkoAnna N.kate-fileo@mail.ruFedotovaEkaterina Yu.kate-fileo@mail.ruKurbatovSergey A.kate-fileo@mail.ruIllarioshkinSergey N.kate-fileo@mail.ruResearch Center of NeurologyVoronezh Regional Clinical Diagnostic Center15032019131152516032019Copyright © 2019, Ivanova E.O., Moskalenko A.N., Fedotova E.Y., Kurbatov S.A., Illarioshkin S.N.2019<p>Myotonic dystrophy is the most common form of hereditary progressive muscular dystrophy in adults. The disorder is characterized by progressive course, autosomal<br />dominant inheritance and multisystem involvement (skeletal muscles, myocardium, endocrine system, eyes, etc.). The paper highlights a huge heterogeneity of<br />clinical manifestations of myotonic type 1 and type 2, and reviews genetic aspects and current approaches to the diagnosis of myotonic dystrophy. We present our<br />own clinical observation of myotonic dystrophy in a family, which demonstrates a rare combination of a classical form of myotonic dystrophy type 1, syringomyelia<br />and proximal muscle weakness, and provides an classical example of the phenomenon of anticipation.</p>myotonic dystrophymyopathymultisystem involvementmicrosatellite expansion anticipationsyringomyeliaмиотоническая дистрофиямиопатиямультисистемное поражениеэкспансия микросателлитных повторовантиципациясирингомиелия[Harper P.S., Karpati G., Hilton-Jones D., Griggs R.C. (eds.) Myotonic dystrophy. Disorders of Voluntary Muscle. Cambridge: Cambridge University Press, 2001: 541–559.][Meola G., Cardani R. Myotonic dystrophies: An update on clinical aspects, genetic, pathology, and molecular pathomechanisms. 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