期刊名称：Aktuelnosti iz Neurologije, Psihijatrije i Graničnih Područja
印刷版ISSN：0354-2726
出版年度：2008
卷号：XVI
期号：1-2
页码：48-51
出版社：Clinical Center of Vojvodina
摘要：Myotonic dystrophy (dystrophia myotonica, DM) is the most common form of muscular dystronphy in adults. The diagnosis of DM is simple, and most frequently possible only on the basis of the clinical picture. The genetic cause of Steinert's disease or DM type 1 (DM1), dystrophia myotonicanprotein kinase (DMPK) gene located on the long (q) arm of chromosome 19, was identified in 1992. In 2001 ZHF9 prontein located on the long (q) arm of chromosome 9 was found responsible for development of a clinically considerably less severe disease, originally called proximal muscular myopathy (PROMM), and nowadays known as DM type 2 (DM2). Both forms have autosomal dominant patterns of inheritance. These disncoveries have led to the better understanding of the pathogenesis of myotonic dystrophy as well as to the differentiation of the clinical forms, which has a great therapeutic and prognostic significance. Also a new classification of dystrophic myotonic disorders has been proposed. This article presents parameters for differnential diagnosis of the two types of myotonic dystrophy along with a case report from our clinical practice
