查看Emery Dreifuss肌肉萎缩症的来源

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您请求的操作仅限于组中的用户:==诊断测试/实验室测试/实验室值== ===== 临床诊断 ===== EDMD的临床诊断是基于临床表现部分列出的三联征的存在。=====其他非特异性临床表现 ===== *肌电图(EMG)通常显示肌病特征,神经传导正常。然而,在x连锁EDMD和常染色体显性EDMD中发现了神经病变模式。*CT扫描显示肌肉弥漫性受累,包括肱二头肌、比目鱼肌、腓骨肌、股外肌、臀肌和椎旁肌。常染色体显性EDMD患者在小腿和大腿后部的发现有报道。
===== 非特异性实验室发现Bonne G, Leturcq F, Yaou RB。肌肉萎缩症。http://www.ncbi.nlm.nih.gov/books/NBK1436/(2014年3月3日访问) ===== *“血清CK浓度”可能正常或中度升高至正常水平的2-20倍。与疾病晚期相比,在疾病初期更常出现增加。*“肌肉组织病理学”显示非特异性肌病或营养不良的改变:纤维大小改变,内核增加,肌内膜结缔组织增加,纤维坏死。电子显微镜可显示核结构的特异性改变。由于缺乏特异性,肌肉活检很少用于诊断目的。 ''Immunodetection of Emerin ''(detected by immunofluorescence and/or by western blot): Absent in 95% of individuals with X-Linked EDMD. Normally expressed in individuals with Autosomal Dominant EDMD. ''Immunodetection of FHL1 (detected by immunofluorescence and/or by western blot): ''Absent or significantly decreased in individuals with FHL1-related X-Linked EDMD. ===== Genetic Testing ===== Genetic testing can determine the presence of particular defects that cause EDMD and can help predict the course of the disease, as well as help assess the risk of passing the disease on to the next generation.Hauptmann-Thanheuser. Emery Dreifuss Muscular Dystrophy: Diagnosis. http://mda.org/disease/emery-dreifuss-muscular-dystrophy/diagnosis (accessed 3 March 2014)

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