Larsen Katja, Smith Torben Aagaard
Amtssygehuset i Glostrup, Neurologisk Afdeling, DK-2600 Glostrup.
Ugeskr Laeger. 2005 Aug 29;167(35):3310-1.
Kennedy's disease, or spinal and bulbar muscular atrophy (SBMA), is an inherited X-linked degenerative disorder characterised by slowly progressive proximal limb weakness, bulbar weakness, fasciculations, signs of androgen insensitivity and characteristic EMG findings. The disease is caused by a trinucleotide (CAG) repeat in the androgen receptor gene. We describe a patient with atypical symptoms who was initially misdiagnosed after presenting with weakness of mm. masseter and mm. temporales that caused his jaw to hang open. The initial diagnosis was suspicion of myasthenia gravis or ALS. Genetic testing later confirmed the diagnosis of Kennedy's disease.
肯尼迪病，即脊髓和延髓肌萎缩症（SBMA），是一种遗传性X连锁退行性疾病，其特征为近端肢体缓慢进行性无力、延髓肌无力、肌束震颤、雄激素不敏感体征以及特征性肌电图表现。该疾病由雄激素受体基因中的三核苷酸（CAG）重复序列引起。我们描述了一名具有非典型症状的患者，他最初因咬肌和颞肌无力导致下颌张开而就诊时被误诊。初步诊断怀疑是重症肌无力或肌萎缩侧索硬化症。后来的基因检测证实了肯尼迪病的诊断。
