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英籍男性59岁,进行性呼吸困难,双睑下垂,吞咽困难10年。曾有睡眠呼吸暂停及由于强直阵挛发作而引起呼吸停止,为维持通气和营养行气管切开和胃造瘘。体格检查见神志清楚,智力正常,双睑下垂,水平眼震,眼球活动充分,软腭活动差,咽反射消失,全身消瘦和肢体力弱以三头肌为著,肌张力正常无震颤,下颌反射活跃,肢体腱反射轻度亢进,其他检查正常。CT和MRI显示普遍脑萎缩,脑室周围低密度。肌电图为神经元性损害。肌活检可见成组的纤维萎缩,呈部分神经原性肌萎缩。病后10年因呼吸衰竭而死亡。尸检示侧脑室轻度扩大。中脑、桥脑、延髓选择性神经原缺失神经胶质增生,
British male 59 years old, progressive dyspnea, ptosis, dysphagia 10 years. There was sleep apnea and cessation of breathing due to tonic-clonic seizures, tracheotomy and gastrostomy for maintenance of ventilation and nutrition. See physical examination of mind clear, normal intelligence, ptosis, horizontal nystagmus, full of eye activity, poor palate activity, disappearance of pharyngeal reflex, body weight loss and limb weakness to the triceps, normal muscle tone without tremor, mandibular reflex Active, limb tendon reflex mild hyperthyroidism, other tests were normal. CT and MRI showed widespread brain atrophy, low density around the ventricle. Electromyography is neuronal damage. Muscle biopsy showed a group of fibrous atrophy, was a part of neurogenic muscle atrophy. 10 years after the illness died of respiratory failure. Autopsy showed mild lateral ventricle expansion. Midbrain, pons, bulbar-selective neurons lack glial proliferation,