Tomczykiewicz Kazimierz, Wrodycka Beata, Sułek Anna
Wojskowy Instytut Medyczny, Klinika Neurologiczna CSK MON w Warszawie.
Pol Merkur Lekarski. 2005 Mar;18(105):307-9.
Kennedy's disease or spinal and bulbar muscular atrophy (SBMA) is a rare neurological illness inherited recessively, linked with chromosome X. The first symptoms appear in the adult age and result from degeneration of both motor and sensory neurons. The disease begins differently, thus causing diagnostic mistakes. In our case the symptoms suggested discopathy, therefore the patient was operated on L5-S1 discopathy, which did not improve lower limb muscle strength. This entailed further diagnostic work-up. The EMG (needle) examination showed widespread chronic denervation with reinnervation in the muscles of the limbs. The genetic examination revealed increased number of CAG(45) trinucleotide repeats, thus confirming a suspicion of Kennedy's disease.
肯尼迪病或脊髓延髓肌肉萎缩症(SBMA)是一种罕见的隐性遗传性神经系统疾病,与X染色体相关。最初症状出现在成年期,是由运动和感觉神经元退化引起的。该病起病方式各异,因此会导致诊断错误。在我们的病例中,症状提示椎间盘病,所以患者接受了L5 - S1椎间盘病手术,但下肢肌肉力量并未改善。这就需要进一步的诊断检查。肌电图(针极)检查显示四肢肌肉广泛存在慢性失神经支配并伴有神经再支配。基因检查发现CAG(45)三核苷酸重复序列数量增加,从而证实了对肯尼迪病的怀疑。