Clinical and genetic heterogeneity in myotonic dystrophies

Research output: Contribution to journalArticle


This review of myotonic dystrophies primarily concentrates on the clinical and genetic findings that can distinguish a novel form of myotonic dystrophy, myotonic dystrophy type 2 (DM2); proximal myotonic myopathy (PROMM); and proximal myotonic dystrophy (PDM) from myotonic dystrophy type 1 (DM1). The multisystemic nature of these disorders leads to a spectrum of symptoms and signs. Careful clinical evaluation of patients with DM2/PROMM shows that the similarities among the multisystemic myotonic disorders outweigh the differences. An important point in the comparison of the phenotypes of DM1 and DM2/PROMM is that no severe congenital type of DM2/PROMM has yet been described. Genetic linkage analyses show that myotonic dystrophies can be divided into three types: The conventional Steinert type linked to chromosome 19q13.3 (DM1); DM2/ PROMM and PDM linked to chromosome 3q21.3; and families not linked to either chromosomal site. Although the diagnosis may be clinically suspected, it depends on DNA analysis. (C) 2000 John Wiley and Sons, Inc.

Original languageEnglish
Pages (from-to)1789-1799
Number of pages11
JournalMuscle and Nerve
Issue number12
Publication statusPublished - 2000


  • Allelic heterogeneity
  • Clinical heterogeneity
  • DM1
  • DM2
  • Genetic heterogeneity
  • Myotonic dystrophies
  • Proximal myotonic dystrophy
  • Proximal myotonic myopathy

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)

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