" /> Dystrophia Myotonica 1 - CISMeF





Preferred Label : Dystrophia Myotonica 1;

NCIt related terms : Steinert Syndrome; Steinert Disease; Steinert Myotonic Dystrophy Syndrome; Myotonic Dystrophy 1;

NCIt definition : A rare autosomal dominant disorder caused by mutations in the DMPK gene. It is characterized by myotonia, muscular dystrophy, hypogonadism, heart conduction defects and cataracts.;

Alternative definition : NICHD: An autosomal dominant condition caused by heterozygous trinucleotide repeat expansion(s) (CTG)n in the 3-prime untranslated region of the DMPK gene, encoding myotonin-protein kinase. The clinical features of this heterogenous condition may include myotonia, muscular dystrophy, cataracts, hypergonadotropic hypogonadism, adrenal insufficiency, diabetes, frontal balding, and electrocardiographic changes.;

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31/07/2025


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