Abstract
Myotonic dystrophy (MD) is a common form of muscular dystrophy in adults with autosomal dominant inheritance, characterized by progressive myopathy, myotonia, multiorgan involvement. There are two types of the disease: myotonic dystrophies 1 and 2. Both types are repeat expansion diseases. MD1 is caused by an increase CTG-repeats in the 3’-untranslated region of the DMPK gene on chromosome 19, MD2 - by an increase of CCTG-repeats in intron 1 of the ZNF9 gene on chromosome 3. The phenomenon of anticipation is described for myotonic dystrophy type 1 but not for MD2. Modifying factors are being searched actively in recent years. A sample of FSBI RCMG patients with clinical diagnosis «myotonic dystrophy» was analyzed in this study. Tendencies of the influence of gender as a modifier of the disease severity have been revealed. The proportion of MD2 in the myotonic dystrophies among Russian patients has been established as 17%. Earlier it was supposed that this form might be very rare.
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