Document Detail


Functional performance and muscle strength phenotypes in men and women with Danon disease.
MedLine Citation:
PMID:  21104865     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Danon disease is a rare X-linked myopathy that is characterized clinically by a triad of cardiomyopathy, skeletal myopathy, and cognitive impairment. The purpose of this investigation was to quantify functional performance, muscle weakness, and quadriceps activation in individuals with Danon disease as compared with healthy individuals. Four males (ages 10-34 years) and 4 females (ages 16-50 years), with the genetic markers of Danon disease, were compared with 8 healthy males (ages 22-34 years) and 8 healthy females (ages 23-41 years) and previously reported norms. Affected males and females had decreased functional performance, significant generalized muscle weakness, and decreased quadriceps strength and activation when compared with healthy individuals. Affected males had larger deficits in function, strength, and activation when compared with affected females. The results indicate that, although the presentation of Danon disease is variable and is typically only described in males, muscle weakness patterns exist in both affected males and females.
Authors:
Jennifer E Stevens-Lapsley; Laurel R Kramer; Jaclyn E Balter; Jean Jirikowic; Dana Boucek; Matthew Taylor
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Publication Detail:
Type:  Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Muscle & nerve     Volume:  42     ISSN:  1097-4598     ISO Abbreviation:  Muscle Nerve     Publication Date:  2010 Dec 
Date Detail:
Created Date:  2010-11-24     Completed Date:  2011-01-03     Revised Date:  2013-07-03    
Medline Journal Info:
Nlm Unique ID:  7803146     Medline TA:  Muscle Nerve     Country:  United States    
Other Details:
Languages:  eng     Pagination:  908-14     Citation Subset:  IM    
Affiliation:
Physical Therapy Program, Department of Physical Medicine and Rehabilitation, University of Colorado Denver, MS C244, 13121 East 17th Avenue, Aurora, Colorado 80045, USA. Jennifer.Stevens-Lapsley@ucdenver.edu
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Adult
Cross-Sectional Studies
Female
Glycogen Storage Disease Type IIb / physiopathology*
Humans
Male
Middle Aged
Muscle Strength / physiology*
Muscle Strength Dynamometer
Muscle Weakness / physiopathology*
Phenotype
Quadriceps Muscle / physiopathology*
Statistics, Nonparametric
Grant Support
ID/Acronym/Agency:
MO1-RR00069/RR/NCRR NIH HHS; UL1 RR025780/RR/NCRR NIH HHS; UL1 RR025780/RR/NCRR NIH HHS; UL1 RR025780-02/RR/NCRR NIH HHS
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