The Myotonic Dystrophies

Richard T. Moxley, James E. Hilbert, Giovanni Meola

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

The myotonic dystrophies are characterized by dominant inheritance of myotonia, cataracts, and muscle weakness, with striking multisystem manifestations involving the brain, smooth muscle, cardiovascular, and endocrine systems. Myotonic dystrophy type 1 (DM1) results from an unstable trinucleotide repeat expansion (CTG) in the dystrophia myotonica-protein kinase gene located on chromosome 19q13.3. Myotonic dystrophy type 2 (DM2) results from an unstable four nucleotide repeat expansion (CCTG) at intron 1 of the CNBP/ZNF9 gene. DM2 patients have similar multisystem manifestations as DM1 patients, but greater proximal than distal weakness. There is no congenital form of DM2. Evidence suggests that manifestations of both DM subtypes primarily result from abnormal regulation of alternative splicing in mature tissues. Experimental therapies have shown promising results to reverse symptoms in mouse models of DM1. There is high enthusiasm to complete the work required to translate these experimental findings into human clinical studies.

Original languageEnglish
Title of host publicationRosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease: Fifth Edition
PublisherElsevier Inc.
Pages1153-1168
Number of pages16
ISBN (Print)9780124105294, 9780124105492
DOIs
Publication statusPublished - Nov 13 2014

Keywords

  • Antisense oligonucleotides
  • Clinical care guidelines
  • Experimental therapies
  • Management
  • Myotonic dystrophy
  • Myotonic dystrophy type 1
  • Myotonic dystrophy type 2
  • Pathophysiology
  • Spliceopathy

ASJC Scopus subject areas

  • Medicine(all)

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