基因确诊的一肯尼迪病家系临床分析

肯尼迪病是一种罕见的性连锁运动神经元病，其临床表型多变。中南大学湘雅医院收治了一个缺乏延髓麻痹和雄激素功能低下的肯尼迪病家系，该家系中4名男性患者均表现为累及四肢的下运动神经元瘫痪(以远端为著)，缺乏延髓麻痹和雄激素功能低下症状。4名患者肌酸激酶水平升高，肌电图表现为典型神经源性肌萎缩。SMN1基因检测均为阴性，AR基因检测证实1号外显子CAG重复拷贝增加。提示作为肯尼迪病的特征性表现，延髓麻痹和雄激素功能低下并非诊断肯尼迪病的必备条件。以慢性上运动神经元病症状为主要表现的成年男性患者，即便缺乏特征性的雄激素功能低下或延髓麻痹，也要考虑到肯尼迪病的可能并予以基因检测。

Clinical features of a genetically identified spinal and #br# bulbar muscular atrophy pedigree

Spinal and bulbar muscular atrophy (SBMA) is a rare X-linked motor neuron disease with significant phenotypic viability. Here, we present a genetically identified SBMA family without bulbar paralysis or androgen insensitivity. All four male patients presented with progressive lower motor neuron paralysis in all limbs, with distal extremities more dominant. None of them had bulbar palsy or androgen insensitivity. A consistently mild elevated blood creatine phosphokinase (CPK) levels were detected in all patients and the EMG showed a chronic neurogenic damage. Muscle biopsy of propositus indicated a typical neurogenic amyotrophy. Genetic testing for SMA of mutation in SMN1 was negative, while for SBMA of androgen receptor showed the increased CAG repeat in exon 1, suggesting that although bulbar symptoms and androgen insensitivity are characteristic symptoms of SBMA, they are not obligatory for the diagnosis. In adult males with a chronic motor neuron syndrome without upper motor neuron signs, even in absence of the classical features of androgen insensitivity or bulbar findings, genetic testing for SBMA should be strongly considered.