Document Detail

Cardiac and pulmonary function variability in Duchenne/Becker muscular dystrophy: an initial report.
MedLine Citation:
PMID:  20501885     Owner:  NLM     Status:  MEDLINE    
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.
David J Birnkrant; Mahi Lakshmi Ashwath; Garey H Noritz; Michelle C Merrill; Tushar A Shah; Carol A Crowe; Robert C Bahler
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Publication Detail:
Type:  Comparative Study; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't     Date:  2010-05-25
Journal Detail:
Title:  Journal of child neurology     Volume:  25     ISSN:  1708-8283     ISO Abbreviation:  J. Child Neurol.     Publication Date:  2010 Sep 
Date Detail:
Created Date:  2010-09-06     Completed Date:  2011-06-01     Revised Date:  2014-03-19    
Medline Journal Info:
Nlm Unique ID:  8606714     Medline TA:  J Child Neurol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  1110-5     Citation Subset:  IM    
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MeSH Terms
Cardiomyopathies / diagnosis,  genetics,  physiopathology*
Disease Progression
Heart Function Tests / methods
Muscular Dystrophy, Duchenne / diagnosis,  genetics,  physiopathology*
Mutation / genetics
Respiratory Function Tests / methods
Respiratory Paralysis / diagnosis,  genetics,  physiopathology*
Retrospective Studies
Grant Support

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