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Neurol Sci. 2017 Apr;38(4):535-546. doi: 10.1007/s10072-016-2805-5. Epub 2017 Jan 11.

Myotonic dystrophy type 2 and modifier genes: an update on clinical and pathomolecular aspects.

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Department of Biomedical Sciences for Health, University of Milan, IRCCS Policlinico San Donato, Piazza E. Malan, 1, San Donato Mil., 20097, Milan, Italy.
Department of Neurology, IRCCS Policlinico San Donato, San Donato Milanese, Milan, Italy.
Laboratory of Muscle Histopathology and Molecular Biology, IRCCS Policlinico San Donato, San Donato Milanese, Milan, Italy.


Myotonic dystrophy (DM) is the most common adult muscular dystrophy, characterized by autosomal dominant progressive myopathy, myotonia, and multiorgan involvement. To date, two distinct forms caused by similar mutations in two different genes have been identified: myotonic dystrophy type 1 (DM1) and myotonic dystrophy type 2 (DM2). Aberrant transcription and mRNA processing of multiple genes due to RNA-mediated toxic gain-of function has been suggested to cause the complex phenotype in DM1 and DM2. However, despite clinical and genetic similarities, DM1 and DM2 may be considered as distinct disorders. This review is an update on the latest findings specific to DM2, including explanations for the differences in clinical manifestations and pathophysiology between the two forms of myotonic dystrophies.


Microsatellite expansion; Modifier genes; Myotonic dystrophy type 2; Spliceopathy

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