Clinical features of spinal and bulbar muscular atrophy.
Clinical features of spinal and bulbar muscular atrophy.
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DOI：
10.1093/brain/awp258
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发表时间：
2009-12
期刊：
影响因子：
--
通讯作者：
Fischbeck KH
中科院分区：
文献类型：
--
作者：
Rhodes LE;Freeman BK;Auh S;Kokkinis AD;La Pean A;Chen C;Lehky TJ;Shrader JA;Levy EW;Harris-Love M;Di Prospero NA;Fischbeck KH
脊髓延髓肌萎缩症是一种由雄激素受体基因CAG重复扩增引起的X连锁运动神经元疾病。为了描述自然史并确定临床试验的结果指标，我们评估了57例经遗传学证实的疾病患者的临床病史、实验室检查结果、肌肉力量和功能。我们还对日常生活活动、生活质量和勃起功能进行了自我评估问卷。我们发现从虚弱发作到诊断的平均延迟时间超过5年。肌肉力量和功能与血清睾酮水平直接相关，与CAG重复长度、年龄和虚弱持续时间呈负相关。与健康对照组相比，运动单位数量估计减少了约一半。几乎所有受试者的感觉神经动作电位均降低。定量肌肉评估和定时2分钟步行可能是有用的疾病状态的有意义的指标。睾酮水平与肌肉力量的直接相关性表明，除了动物模型中描述的毒性作用外，雄激素可能对脊髓和延髓肌萎缩症患者的肌肉功能有积极作用。
Spinal and bulbar muscular atrophy is an X-linked motor neuron disease caused by a CAG repeat expansion in the androgen receptor gene. To characterize the natural history and define outcome measures for clinical trials, we assessed the clinical history, laboratory findings and muscle strength and function in 57 patients with genetically confirmed disease. We also administered self-assessment questionnaires for activities of daily living, quality of life and erectile function. We found an average delay of over 5 years from onset of weakness to diagnosis. Muscle strength and function correlated directly with serum testosterone levels and inversely with CAG repeat length, age and duration of weakness. Motor unit number estimation was decreased by about half compared to healthy controls. Sensory nerve action potentials were reduced in nearly all subjects. Quantitative muscle assessment and timed 2 min walk may be useful as meaningful indicators of disease status. The direct correlation of testosterone levels with muscle strength indicates that androgens may have a positive effect on muscle function in spinal and bulbar muscular atrophy patients, in addition to the toxic effects described in animal models.
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