Myotonic dystrophies type 1 and 2: a summary on current aspects.
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.
Schara
Ulrike
U
Department of Neuropediatrics, City Hospital Neuss, Neuss, Germany.
Schoser
Benedikt G H
BG
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
C433227:CNBP protein, human; D007136:Immunoglobulins; D016601:RNA-Binding Proteins; D005723:gamma-Glutamyltransferase; D003402:Creatine Kinase