Late onset Pompe disease:: Clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients
Late onset Pompe disease:: Clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients
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DOI：
10.1016/j.nmd.2007.06.002
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发表时间：
2007-10-01
影响因子：
2.8
通讯作者：
Schoser, Benedikt
中科院分区：
文献类型：
--
作者：
Muller-Felber, Wolfgang;Horvath, Rita;Schoser, Benedikt
描述一个大型队列的生化和遗传学证实的晚发型庞贝氏症患者的临床和神经生理谱及预后。详细描述了1985年至2006年在我院神经肌肉科确诊的38例迟发性庞贝氏症患者，从出现症状或首次就诊到确诊的平均延迟时间分别为10.4年和7.1年。38例患者中有11例提出了不同的诊断。10例患者在确诊庞贝氏症之前进行了重复的肌肉活检。肢带无力是最常见的表现。6例患者主诉肌痛。38例患者中3例出现Wolf Parkinson-White综合征。呼吸衰竭发生在三名患者明显的肢体肌无力之前。所有患者的病程均为进展性，但进展方式多种多样，与发病年龄无关。在71%的患者中，神经生理学检查显示肌病肌电图模式，一半的患者有自发活动，包括复杂的重复放电。肌电图正常者占9.0%。神经传导检查均正常，不明原因肢带肌无力伴呼吸衰竭者应考虑庞贝氏症。心脏表现可能不限于婴儿庞贝氏症。(C)2007 Elsevier B. V.保留所有权利。
To describe the clinical and neurophysiological spectrum and prognosis in a large cohort of biochemically and genetically proven late onset Pompe patients. Thirty-eight diagnosed with late onset Pompe disease at our neuromuscular department during 1985 and 2006 are described in detail.The mean delay from onset of symptoms or first medical consultation until diagnosis was 10.4 and 7.1 years, respectively. A different diagnosis was suggested in 11 of 38 patients. Ten patients underwent repeated muscle biopsies before diagnosis of Pompe disease was established. Limb girdle weakness was the most frequent presenting sign. Six patients complained of myalgia. Wolf Parkinson-White syndrome was found in 3 of 38 patients. Respiratory failure preceded the onset of overt limb muscle weakness in three patients. The course of the patients was progressive in all, but there was a wide variety of progression, which did not correlate with the age of disease onset. In 71% of the patients, neurophysiological investigations revealed a myopathic EMG pattern, half of the patients had spontaneous activity including complex repetitive discharges. A normal EMG was found in 9%,, of the patients. Nerve conduction studies were normal in all.Pompe disease should be taken into consideration in patients with unexplained limb girdle muscular weakness with respiratory failure. Cardiac manifestations may not be restricted to infantile Pompe disease. (C) 2007 Elsevier B.V. All rights reserved.