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140th ENMC International Workshop: Myotonic Dystrophy DM2/PROMM and other myotonic dystrophies with guidelines on management

2006; Elsevier BV; Volume: 16; Issue: 6 Linguagem: Inglês

10.1016/j.nmd.2006.03.010

1873-2364

Bjarne Udd, G. Meola, Ralf Krahe, Charles A. Thornton, Laura P.W. Ranum, Guillaume Bassez, Wolfram Kreß, Benedikt Schoser, Richard T. Moxley,

Parkinson's Disease Mechanisms and Treatments

Myotonic dystrophy is the combination of progressive myotonic myopathy, multiorgan involvement and autosomal dominant inheritance. Currently, two distinct entities of myotonic dystrophy are characterized and defined by their underlying molecular genetic cause. Myotonic dystrophy type 1 (DM1, Steinert's disease) is considered to be the most frequent muscular dystrophy in adults [1]. Starting in 1994 publications of another disorder with similar core features but lacking the DM1 mutation have emerged [2,3].