A middle age man complained of progressive bilateral hand tremor and occasional muscle cramps. Examination showed tongue muscle atrophy and limb muscle fasciculation with resting and postural tremor in the upper extremities. Deep tendon reflexes were decreased. He had bilateral breast enlargement. Nerve conduction study and Electromyography revealed chronic sensory-motor neuropathy. DNA analysis identified an expanded number of CAG trinucleotide repeats in the androgen receptor gene consistent with a diagnosis of Kennedy’s disease (KD). KD, also known as Spinal Bulbar Muscular Atrophy (SBMA), is a rare X-linked recessive lower motor neuron disorder characterized by proximal and bulbar muscle wasting due to degeneration of motor neurons in the brain stem and spinal cord. KD can present with non-specific symptoms initially and may be misdiagnosed as Amyotrophic Lateral Sclerosis or other neurological conditions. Molecular genetic testing enables the diagnosis by identifying the CAG trinucleotide repeat expansion.

中文翻译：

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脊髓延髓肌萎缩症-肯尼迪病

一名中年男子抱怨双侧手进行性震颤，偶尔出现肌肉痉挛。检查显示舌肌萎缩，四肢肌束颤动，并伴有上肢静息和姿势性震颤。深部腱反射减弱。他的双侧乳房增大。神经传导研究和肌电图显示慢性感觉运动神经病。DNA 分析发现雄激素受体基因中 CAG 三核苷酸重复数量增多，这与肯尼迪病 (KD) 的诊断一致。KD，也称为脊髓延髓肌萎缩症 (SBMA)，是一种罕见的 X 连锁隐性下运动神经元疾病，其特征是由于脑干和脊髓运动神经元变性导致近端和延髓肌肉萎缩。川崎病最初可能会出现非特异性症状，可能会被误诊为肌萎缩侧索硬化症或其他神经系统疾病。分子遗传学检测通过识别 CAG 三核苷酸重复扩增来实现诊断。