Myotonic dystrophy: genetics and clinical polymorphism

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Abstract

Myotonic dystrophy is the most common form of hereditary progressive muscular dystrophy in adults. The disorder is characterized by progressive course, autosomal
dominant inheritance and multisystem involvement (skeletal muscles, myocardium, endocrine system, eyes, etc.). The paper highlights a huge heterogeneity of
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
own clinical observation of myotonic dystrophy in a family, which demonstrates a rare combination of a classical form of myotonic dystrophy type 1, syringomyelia
and proximal muscle weakness, and provides an classical example of the phenomenon of anticipation.

About the authors

Ekaterina O. Ivanova

Research Center of Neurology, Moscow

Author for correspondence.
Email: platonova@neurology.ru
Russian Federation

Anna N. Moskalenko

Research Center of Neurology, Moscow

Email: platonova@neurology.ru
Russian Federation

Ekaterina Yu. Fedotova

Research Center of Neurology, Moscow

Email: platonova@neurology.ru
Russian Federation

Sergey A. Kurbatov

Voronezh Regional Clinical Diagnostic Center, Voronezh

Email: platonova@neurology.ru
Russian Federation

Sergey N. Illarioshkin

Research Center of Neurology, Moscow

Email: platonova@neurology.ru
Russian Federation

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Copyright (c) 2019 Ivanova E.O., Moskalenko A.N., Fedotova E.Y., Kurbatov S.A., Illarioshkin S.N.

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