Survival and CTG repeat expansion in adults with myotonic dystrophy type 1

William J. Groh, Miriam R. Groh, Changyu Shen, Darren G. Monckton, Cynthia L. Bodkin, Robert M. Pascuzzi

Research output: Contribution to journalArticle

37 Scopus citations

Abstract

Introduction: An association is observed between the severity of myotonic dystrophy type 1 (DM1) and the genetic abnormality of cytosine-thymine-guanine (CTG) repeat expansion. It is unknown whether an association exists between survival and CTG repeat expansion. Methods: In an adult 406-patient DM1 cohort, the phenotype, including survival age, was evaluated in relation to CTG repeat expansion. Results: At study entry, age was 42 ± 12 (range 18-78) years, with a CTG repeat length of 629 ± 386 (range 54-1965). An inverse correlation was observed between CTG repeat length and the age at onset and younger DM1 phenotype. Over a follow-up of 9.2 ± 3.1 years, 118 (29.1%) patients died, including 60 of neuromuscular respiratory failure, 41 of cardiac causes, and 17 of non-neuromuscular, non-cardiac causes. There was an inverse relationship between all-cause survival and CTG length (relative risk 5.4 per log repeat, 95% confidence interval 2.9-10.2, P < 0.001). Conclusion: The data demonstrate a genotype-mortality association in DM1.

Original languageEnglish (US)
Pages (from-to)648-651
Number of pages4
JournalMuscle and Nerve
Volume43
Issue number5
DOIs
StatePublished - May 1 2011

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Keywords

  • CTG repeat expansion
  • Mortality
  • Muscular dystrophy
  • Myotonic dystrophy type 1
  • Survival

ASJC Scopus subject areas

  • Clinical Neurology
  • Cellular and Molecular Neuroscience
  • Physiology (medical)
  • Physiology

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