Cardiac and pulmonary function variability in Duchenne/Becker muscular dystrophy: An initial report

David J. Birnkrant, Mahi Lakshmi Ashwath, Garey H. Noritz, Michelle C. Merrill, Tushar A. Shah, Carol A. Crowe, Robert C. Bahler

Research output: Contribution to journalArticlepeer-review

29 Scopus citations


The Duchenne and Becker forms of muscular dystrophy are associated with dilated cardiomyopathy and are diseases in which pulmonary function peaks and then progressively declines. In this report, the authors quantify cardiopulmonary function variability among brothers. Brothers in 3 of 7 eligible sibships had discordant pulmonary function, with significant differences between the brothers' peak forced vital capacities and their vital capacities at last comparable age. There was no relationship between pulmonary and cardiac function among the siblings. The authors concluded that despite identical genetic mutations, cardiac and pulmonary function variability was common among brothers in their clinic with Duchenne or Becker muscular dystrophy. If confirmed by larger studies, these results have negative implications for the use of genetic testing to predict cardiopulmonary course and response to therapies in Duchenne or Becker muscular dystrophy.

Original languageEnglish (US)
Pages (from-to)1110-1115
Number of pages6
JournalJournal of Child Neurology
Issue number9
StatePublished - Sep 2010
Externally publishedYes


  • Becker muscular dystrophy
  • Duchenne muscular dystrophy
  • cardiomyopathy
  • dystrophinopathy
  • genetics
  • genotype
  • muscular dystrophy
  • phenotype
  • pulmonary function

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Clinical Neurology


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