Whittaker Roger G, Chinnery Patrick F, Miller James A L
From the Institute of Neuroscience (R.G.W.), The Medical School, Newcastle University; and the Wellcome Trust Centre for Mitochondrial Research (P.F.C., J.A.L.M.), Institute of Genetic Medicine, Newcastle upon Tyne, UK.
Neurology. 2014 Jun 17;82(24):e220-1. doi: 10.1212/WNL.0000000000000534.
A 40-year-old man presented with a 25-year history of cramps affecting the abdomen, neck, and limbs. Examination revealed fasciculation in the forearms, abdomen, and chin (video on the ® Web site at Neurology.org). There was shoulder girdle wasting with bilateral mastectomy scars (figure, B and C). Creatine kinase (CK) was 1,650 U/L (normal < 310 U/L). Electrodiagnostic studies revealed sensory neuronopathy with neurogenic changes on EMG. Genetic testing demonstrated excess CAG repeats in the androgen receptor gene, confirming Kennedy disease. This X-linked disorder is the most common adult-onset spinal muscular atrophy. CK can be markedly raised. Gynecomastia results from androgen insufficiency and can precede the development of neurologic symptoms.
一名40岁男性，有25年影响腹部、颈部和四肢的痉挛病史。检查发现前臂、腹部和下巴有肌束震颤（视频见Neurology.org网站）。有肩胛带肌萎缩并伴有双侧乳房切除瘢痕（图B和C）。肌酸激酶（CK）为1650 U/L（正常<310 U/L）。电诊断研究显示感觉神经元病，肌电图有神经源性改变。基因检测显示雄激素受体基因中CAG重复序列过多，确诊为肯尼迪病。这种X连锁疾病是最常见的成人起病型脊髓性肌萎缩。CK可显著升高。男性乳房发育由雄激素不足引起，可先于神经系统症状出现。
