一例因头下垂而出现肌无力综合征的 SBMA 患者

IF 0.4 Q4 CLINICAL NEUROLOGY Neurology and Clinical Neuroscience Pub Date : 2024-06-12 DOI:10.1111/ncn3.12831
Hiroyuki Sumikura, Naoki Hatayama, Tomohiro Fujioka, Nozomi Nagashima, Yuki Shimada, I. Fukasaka, Manabu Sakaguchi
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引用次数: 0

摘要

一名 76 岁的脊髓和球部肌肉萎缩症(SBMA)患者出现了急性垂头症状,昼夜波动,傍晚时症状加重。由于对重复刺激的反应减弱,以及单纤维肌电图上的抖动和阻滞增加,表明神经肌肉传导紊乱,他被诊断为肌萎缩综合征。免疫疗法成功缓解并维持了患者的垂头症状。虽然关于伴有肌萎缩综合征的 SBMA 病例以及神经肌肉传导受损对 SBMA 的临床影响的报道有限,但肌萎缩综合征可能是一种常见病,甚至是 SBMA 表型谱的一部分。据我们所知,这是首例SBMA合并肌萎缩综合征的病例,且仅限于头部下垂。
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A case of SBMA presenting with myasthenic syndrome limited to a dropped head
A 76‐year‐old man with spinal and bulbar muscular atrophy (SBMA) developed an acute course of the dropped head with diurnal fluctuations that worsened in the evening. He was diagnosed with myasthenic syndrome based on a decreased response to repeated stimulation, as well as increased jitter and blocking on single‐fiber electromyography, indicating disturbed neuromuscular transmission. Dropped head symptom was successfully alleviated and maintained by immunotherapy. Although limited reports are available on SBMA cases accompanied by myasthenic syndrome and on the clinical impact of impaired neuromuscular transmission on SBMA, myasthenic syndrome may be a common condition and even a part of the phenotypic spectrum of SBMA. To our knowledge, this is the first case of SBMA comorbid with myasthenic syndrome limited to the dropped head.
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