Guidetti D, Motti L, Marcello N, Vescovini E, Marbini A, Dotti C, Lucci B, Solimè F
Eur Neurol. 1986;25(3):188-96. doi: 10.1159/000116008.
An X-linked adult-onset neurogenic muscular atrophy, chiefly proximal, with late involvement of the distal musculature and medulla oblongata was present in 4 members of a single kindred. Associated in all patients were gynecomastia, impotence and essential tremor. Frederickson type IV hyperlipemia was present in 1 patient. Hormonal stimulation tests in 2 patients elicited a borderline low testicular response in the younger of the 2 and a pathological response in the older patient. On the evidence of these and previously reported cases, Kennedy disease would appear to be characterized by an X-linked proximal neurogenic amyotrophy of adult onset and by a testicular endocrine deficit.
一个家族的4名成员患有X连锁成人起病的神经源性肌肉萎缩，主要累及近端，远端肌肉组织和延髓较晚受累。所有患者均伴有男性乳房发育、阳痿和特发性震颤。1例患者存在弗雷德里克森IV型高脂血症。对2例患者进行的激素刺激试验显示，较年轻的患者睾丸反应临界低，而较年长的患者出现病理性反应。根据这些病例及之前报道的病例，肯尼迪病似乎具有X连锁成人起病的近端神经源性肌萎缩和睾丸内分泌缺陷的特征。
