男性和女性丹-诺病患者的功能表现和肌肉力量表型。
Functional performance and muscle strength phenotypes in men and women with Danon disease.
机构信息
Physical Therapy Program, Department of Physical Medicine and Rehabilitation, University of Colorado Denver, MS C244, 13121 East 17th Avenue, Aurora, Colorado 80045, USA.
出版信息
Muscle Nerve. 2010 Dec;42(6):908-14. doi: 10.1002/mus.21811.
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.
丹农病是一种罕见的 X 连锁肌病，其临床特征为心肌病、骨骼肌病和认知障碍三联征。本研究的目的是定量评估丹农病患者与健康个体之间的功能表现、肌肉无力和股四头肌激活情况。将 4 名男性（年龄 10-34 岁）和 4 名女性（年龄 16-50 岁），具有丹农病的遗传标志物，与 8 名健康男性（年龄 22-34 岁）和 8 名健康女性（年龄 23-41 岁）以及先前报道的正常值进行比较。与健康个体相比，受影响的男性和女性的功能表现下降，存在广泛的肌肉无力，股四头肌力量和激活程度下降。与受影响的女性相比，受影响的男性在功能、力量和激活方面的缺陷更大。结果表明，尽管丹农病的表现具有变异性，并且通常仅在男性中描述，但在受影响的男性和女性中都存在肌肉无力模式。
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