title: Myotonic dystrophies type 1 and 2: a summary on current aspects.
abstract: Myotonic dystrophies (DMs) encompass at least 2 forms: myotonic dystrophy type 1 and 2. In general, DMs are late-onset autosomal dominant disorders characterized by a variety of multisystemic features including myotonia, muscular dystrophy, cardiac conduction defects, dilated cardiomyopathy, posterior iridescent cataracts, frontal balding, insulin-resistance and disease-specific serological abnormalities such as gamma-glutamyltransferase and creatine kinase elevations, hyperglycemia, hypotestosteronism, and reduced immunoglobulin (Ig) G and IgM levels. Beyond the adult forms, in the classic DM1, a congenital form and an early-onset form is recognized. Here we summarize current aspects of the myotonic dystrophy pathogenesis and review the core features of both types of myotonic dystrophies, including the congenital DM1.
authors.affiliation: Department of Neuropediatrics, City Hospital Neuss, Neuss, Germany.
authors.forename: Ulrike
authors.initials: U
authors.lastname: Schara
authors.forename: Benedikt G H
authors.initials: BG
authors.lastname: Schoser
mesh_terms: D003402:Creatine Kinase / Q000378:metabolism; D007136:Immunoglobulins / Q000378:metabolism; D009223:Myotonic Dystrophy / Q000145:classification / Q000235:genetics / Q000503:physiopathology; D016601:RNA-Binding Proteins / Q000235:genetics; D019680:Trinucleotide Repeat Expansion; D005723:gamma-Glutamyltransferase / Q000378:metabolism
chemical_list: C433227:CNBP protein, human; D007136:Immunoglobulins; D016601:RNA-Binding Proteins; D005723:gamma-Glutamyltransferase; D003402:Creatine Kinase