A case of myotonic dystrophy type 1 with paternal history of clinical worsening

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Abstract

Myotonic dystrophy type 1 (DM1) is an autosomal dominant disease associated with the expansion of trinucleotide CTG repeats in the dystrophia myotonica protein kinase (DMPK) gene. DM1 is clinically manifested by a combination of myotonia, progressive atrophy of skeletal muscles, and the multisystemic character of the disorder, severity of which correlates with the CTG tract length. DM1 is characterized by anticipation that is manifested in the worsening and more early onset of the disease in each succeeding generation, especially when inherited from clinically affected mothers. Using clinical observation of a family with two cases of advansed DM1 forms as an example, it was demonstrated that clinical, electromyographic, and molecular genetic examinations of all first-degree relatives (parents, siblings, children) are required for the correct prognosis and genetic counseling.

About the authors

S. A. Kurbatov

Voronezh Regional Clinical Consultative and Diagnostic Center

Email: Kurbatov80@list.ru
Россия, Voronezh

V. P. Fedotov

Voronezh Regional Clinical Hospital No. 1

Email: Kurbatov80@list.ru
Россия, Voronezh

N. M. Galeeva

Research Centre of Medical Genetics

Email: Kurbatov80@list.ru
Россия, Moscow

V. V. Zabnenkova

Research Centre of Medical Genetics

Email: Kurbatov80@list.ru
Россия, Moscow

A. V. Polyakov

Research Centre of Medical Genetics

Author for correspondence.
Email: Kurbatov80@list.ru
Россия, Moscow

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Copyright (c) 2015 Kurbatov S.A., Fedotov V.P., Galeeva N.M., Zabnenkova V.V., Polyakov A.V.

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