Cerebral involvement in myotonic dystrophies

Muscle Nerve. 2007 Sep;36(3):294-306. doi: 10.1002/mus.20800.

Abstract

Myotonic dystrophy types 1 (DM1) and 2 (DM2) are similar yet distinct autosomal-dominant disorders characterized by muscle weakness, myotonia, cataracts, and multiple organ involvement, including the brain. One key difference between DM1 and DM2 is that a congenital form has been described for DM1 only. Expression of RNA transcripts containing pathogenic repeat lengths produces defects in alternative splicing of multiple RNAs, sequesters specific repeat-binding proteins, and ultimately leads to developmentally inappropriate splice products for a particular tissue. Whether brain pathology in its entirety in adult DM1 and DM2 is caused by interference in RNA processing remains to be determined. This review focuses on the similarities and differences between DM1 and DM2 with respect to neuropsychological, neuropathological, and neuroimaging data relating to cerebral involvement, with special emphasis on the clinical relevance and social consequences of such involvement.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Brain / pathology
  • Brain / physiopathology*
  • Cognition Disorders / pathology
  • Cognition Disorders / physiopathology*
  • Humans
  • Myotonic Dystrophy / pathology
  • Myotonic Dystrophy / physiopathology*