脊髓延髓肌肉萎缩症：发病机制与临床管理
Spinal and bulbar muscular atrophy: pathogenesis and clinical management.
作者信息
Grunseich C, Rinaldi C, Fischbeck K H
机构信息
Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
出版信息
Oral Dis. 2014 Jan;20(1):6-9. doi: 10.1111/odi.12121. Epub 2013 May 9.
Abstract
Spinal and bulbar muscular atrophy, or Kennedy's disease, is an X-linked motor neuron disease caused by polyglutamine repeat expansion in the androgen receptor. The disease is characterised by weakness, atrophy and fasciculations in the limb and bulbar muscles. Affected males may have signs of androgen insensitivity, such as gynaecomastia and reduced fertility. Neurophysiological studies are typically consistent with diffuse denervation atrophy, and serum creatine kinase is usually elevated 2-5 times above normal. Progression of the disease is slow, and the focus of spinal and bulbar muscular atrophy (SBMA) management is to prevent complications.
摘要
脊髓延髓肌肉萎缩症，即肯尼迪病，是一种由雄激素受体中多聚谷氨酰胺重复序列扩增引起的X连锁运动神经元疾病。该病的特征是肢体和延髓肌肉无力、萎缩及肌束震颤。患病男性可能有雄激素不敏感的体征，如乳腺增生和生育能力下降。神经生理学研究通常与弥漫性去神经萎缩一致，血清肌酸激酶通常比正常水平升高2至5倍。疾病进展缓慢，脊髓延髓肌肉萎缩症（SBMA）的治疗重点是预防并发症。
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