Kawakami O, Takano A, Tanaka A, Koike Y, Sobue G
Department of Neurology, School of Medicine, Nagoya University.
Rinsho Shinkeigaku. 1996 Jul;36(7):892-4.
A 43-year-old man suffered from weakness of the upper limbs and easy fatigability. Low frequency (3 Hz) repetitive nerve stimulation (RNS) showed a marked waning with a maximum decrement of 20% of M wave amplitude. This remarkable waning was partially reduced by an administration of 60 mg bromopyridostigmine. High frequency RNS (30 Hz), however, did not induced waxing. Tensilon test and anti-AchR antibody were negative. The CAG repeat in androgen receptor gene was abnormally expanded ((CAG)n = 47), which confirmed a diagnosis of X-linked bulbar and spinal muscular atrophy. (BSMA). In some ALS patients, impaired neuromuscular transmission has been reported. The impaired neuromuscular transmission in ALS occurs in cases with rapidly progressive muscle wasting, suggesting that this abnormality is related to rapidly degenerating motor nerve endings. However, impaired neuromuscular transmission as seen in this patient has not been well documented in BSMA.
一名43岁男性患有上肢无力和易疲劳症状。低频（3Hz）重复神经电刺激（RNS）显示明显递减，M波振幅最大递减20%。给予60mg溴吡斯的明后，这种明显的递减有所减轻。然而，高频RNS（30Hz）并未诱发递增。腾喜龙试验和抗乙酰胆碱受体抗体均为阴性。雄激素受体基因中的CAG重复序列异常扩增（（CAG）n = 47），这证实了X连锁球部和脊髓性肌萎缩症（BSMA）的诊断。在一些肌萎缩侧索硬化症（ALS）患者中，已报道存在神经肌肉传递受损情况。ALS中神经肌肉传递受损发生在肌肉快速萎缩的病例中，提示这种异常与快速退化的运动神经末梢有关。然而，该患者所见的神经肌肉传递受损在BSMA中尚未有充分记录。
