:Introduction:Typical amyotrophic lateral sclerosis (ALS) presents on neurological examination with specific signs of upper and lower motor neuron degeneration (Brooks et al, 1995), which can account for 85% of patients with ALS (Turner and Talbot, 2013). There are different types of clinical presentations, including progressive bulbar palsy (PBP), Limb-onset ALS, progressive muscular atrophy (PMA) and upper motor neuron (UMN) predominant ALS. PBP has mainly brainstem signs. There are a few case reports of dropped head syndrome in ALS, mainly in patients with the limb involvement variant.Methods:Case reportResults:A 56 year old right-handed male, presented to the clinic with four months of dysphagia to liquids and solids, neck pain and progressive neck weakness causing constant drop head. No dysarthria or other neurological symptoms, no dyspnea. Neurological examination: Cranial Nerve (CN) CN XII: Nasal voice, bilateral atrophy of the tongue with tremor and fasciculations. Motor: Diffuse atrophy and decreased tone of the sternocleidomastoid and trapezii bilaterally, strength: 2/5 in neck flexors and extensors. Sensory: Hypoesthesia of the tongue. The rest of his neurological examination was normal. Labs: Routine blood work, thyroid function tests, collagen vascular work-up, and protein electrophoresis were normal. Creatine Phosphokinase (CPK) and Acetylcholine Receptor Antibodies (AChR Ab) were negative. Brain and Spinal Cord MRI: Showed mild brainstem, cerebellar and cervical spinal atrophy.Conclusions:Patients with ALS initially present with symptoms localized to the limbs or bulbar muscles. A very small percentage 1-2% of ALS patients had neck muscle weakness with head drop (Jokelainen et al, 1977; Gourie-Devi et al, 2003). However, in all the previously reported cases, the patients had limb involvement at the time of presentation which was absent in this case, and the head drop occurred after the onset of symptoms (Lange et al, 1986; Katz et al; 1996). Dropped head syndrome can be seen in inflammatory myopathies, myasthenia gravis, facioscapulohumeral muscular dystrophy, spinal muscular atrophy, nemaline myopathy and carnitine deficiency (Umapathy et al, 2003) but ALS should also be considered in patients with atypical presentations.

中文翻译：

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103 非典型进行性延髓麻痹表现为低头

: 简介：典型的肌萎缩侧索硬化症 (ALS) 在神经系统检查中表现出上、下运动神经元变性的特定体征（Brooks 等人，1995 年），占 ALS 患者的 85%（Turner 和 Talbot，2013 年）。有不同类型的临床表现，包括进行性延髓麻痹 (PBP)、肢体起病 ALS、进行性肌萎缩 (PMA) 和上运动神经元 (UMN) 为主的 ALS。PBP主要有脑干体征。ALS 头颅下垂综合征病例报告少见，主要见于肢体受累变异型患者。方法：病例报告结果：一名 56 岁右利手男性，因对液体和固体的吞咽困难四个月就诊，颈部疼痛和进行性颈部无力，导致头不断下垂。无构音障碍或其他神经系统症状，无呼吸困难。神经系统检查：颅神经 (CN) CN XII：鼻音，双侧舌萎缩伴震颤和肌束颤。运动：双侧胸锁乳突肌和斜方肌弥漫性萎缩和张力降低，强度：颈部屈肌和伸肌的2/5。感觉：舌头感觉迟钝。他的其余神经系统检查正常。实验室：常规血液检查、甲状腺功能检查、胶原血管检查和蛋白质电泳均正常。肌酸磷酸激酶 (CPK) 和乙酰胆碱受体抗体 (AChR Ab) 均为阴性。脑和脊髓 MRI：显示轻度脑干、小脑和颈椎萎缩。结论：患有 ALS 的患者最初表现为四肢或延髓肌肉的症状。极小百分比的 1-2% 的 ALS 患者出现颈部肌肉无力并伴有头部下垂（Jokelainen 等人，1977 年；Gourie-Devi 等人，2003 年）。然而，在所有先前报道的病例中，患者在就诊时有肢体受累，而在这种情况下不存在，并且在症状发作后发生头部下降（Lange 等，1986；Katz 等；1996）。低头综合征可见于炎症性肌病、重症肌无力、面肩肱型肌营养不良、脊髓性肌萎缩、nemaline 肌病和肉碱缺乏症（Umapathy 等，2003），但在表现不典型的患者中也应考虑 ALS。并且在症状发作后发生头部下降（Lange 等，1986；Katz 等；1996）。低头综合征可见于炎症性肌病、重症肌无力、面肩肱型肌营养不良、脊髓性肌萎缩、nemaline 肌病和肉碱缺乏症（Umapathy 等，2003），但在表现不典型的患者中也应考虑 ALS。并且在症状发作后发生头部下降（Lange 等，1986；Katz 等；1996）。低头综合征可见于炎症性肌病、重症肌无力、面肩肱型肌营养不良、脊髓性肌萎缩、nemaline 肌病和肉碱缺乏症（Umapathy 等，2003），但在表现不典型的患者中也应考虑 ALS。