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Functional performance and muscle strength phenotypes in men and women with Danon disease
Author(s) -
StevensLapsley Jennifer E.,
Kramer Laurel R.,
Balter Jaclyn E.,
Jirikowic Jean,
Boucek Dana,
Taylor Matthew
Publication year - 2010
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.21811
Subject(s) - weakness , muscle weakness , medicine , disease , skeletal muscle , myopathy , proximal muscle weakness , cardiomyopathy , surgery , muscle biopsy , heart failure , biopsy
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. Muscle Nerve 42: 908–914, 2010