Advances in clinical diagnosis and treatment of amyotrophic lateral sclerosis

doi:10.3877/cma.j.issn.2095-9133.2019.01.010

Abstract

Xiaodie Zhu, Maoxing Yue, Donglin Hao. Advances in clinical diagnosis and treatment of amyotrophic lateral sclerosis[J]. Chinese Journal of Hygiene Rescue(Electronic Edition), 2019, 05(01): 38-56.

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References 229

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诊断标准	?
必备条件	1.通过临床、电生理或神经病理学检查证实LMN变性； 2．通过临床检查证实UMN变性； 3．通过病史、体格检查或电生理检查发现症状或体征在确定的1个区域或延展区域内进行性发展。
同时除外	1.可以用其他疾病过程的电生理学或病理学证据解释LMN和(或)UMN变性现象； 2．可以用其他疾病中观察到的临床和电生理学证据解释的LMN和(或)UMN变性现象。
诊断分级	?
临床确诊ALS	临床或电生理学证据证实在延髓区和至少2个脊髓节段同时存在LMN和UMN征象；或同时存在3个脊髓节段的LMN和UMN征象。
临床很可能ALS	临床或电生理学证据证实在至少2个脊髓节段同时存在LMN和UMN征象，且UMN损伤征象的节段高于LMN损伤征象的节段。
临床可能ALS	仅在1个区域发现UMN和LMN功能障碍的临床或电生理学征象；或在≥2个节段仅发现UMN损伤征象；或在病程由低节段向高节段发展过程中，LMN损伤征象伴发出现UMN损伤征象。必需在排除其他疾病的前提下通过神经影像学和实验室辅助检查进行诊断。

诊断标准	?
必备条件	1.通过临床、电生理或神经病理学检查证实LMN变性； 2．通过临床检查证实UMN变性； 3．通过病史、体格检查或电生理检查发现症状或体征在确定的1个区域或延展区域内进行性发展。
同时除外	1.可以用其他疾病过程的电生理学或病理学证据解释LMN和(或)UMN变性现象； 2．可以用其他疾病中观察到的临床和电生理学证据解释的LMN和(或)UMN变性现象。
诊断分级	?
临床确诊ALS	临床或电生理学证据证实在延髓区和至少2个脊髓节段同时存在LMN和UMN征象；或同时存在3个脊髓节段的LMN和UMN征象。
临床很可能ALS	临床或电生理学证据证实在至少2个脊髓节段同时存在LMN和UMN征象，且UMN损伤征象的节段高于LMN损伤征象的节段。
临床可能ALS	仅在1个区域发现UMN和LMN功能障碍的临床或电生理学征象；或在≥2个节段仅发现UMN损伤征象；或在病程由低节段向高节段发展过程中，LMN损伤征象伴发出现UMN损伤征象。必需在排除其他疾病的前提下通过神经影像学和实验室辅助检查进行诊断。

诊断标准	?
1.病情进行性发展：通过病史、体检或电生理检查，证实临床症状或体征在一个区域内进行性发展，或从一个区域发展到其他区域。
2．临床、神经电生理或病理检查证实有下运动神经元受累的证据。
3．临床体检证实有上运动神经元受累的证据。
4．排除其他疾病。
诊断分级	?
临床确诊ALS	通过临床或神经电生理检查，证实在4个区域中至少有3个区域存在上、下运动神经元同时受累的证据
临床拟诊ALS	通过临床或神经电生理检查，证实在4个区域中至少有2个区域存在上、下运动神经元同时受累的证据
临床可能ALS	通过临床或神经电生理检查，证实仅有1个区域存在上、下运动神经元同时受累的证据，或者在2或以上区域仅有上运动神经元受累的证据。已经行影像学和实验室检查排除了其他疾病。

诊断标准	?
1.病情进行性发展：通过病史、体检或电生理检查，证实临床症状或体征在一个区域内进行性发展，或从一个区域发展到其他区域。
2．临床、神经电生理或病理检查证实有下运动神经元受累的证据。
3．临床体检证实有上运动神经元受累的证据。
4．排除其他疾病。
诊断分级	?
临床确诊ALS	通过临床或神经电生理检查，证实在4个区域中至少有3个区域存在上、下运动神经元同时受累的证据
临床拟诊ALS	通过临床或神经电生理检查，证实在4个区域中至少有2个区域存在上、下运动神经元同时受累的证据
临床可能ALS	通过临床或神经电生理检查，证实仅有1个区域存在上、下运动神经元同时受累的证据，或者在2或以上区域仅有上运动神经元受累的证据。已经行影像学和实验室检查排除了其他疾病。

解剖异常/压缩综合征	?
?	Arnold-Chiari 1型和其他后脑畸形
?	颈、枕骨大孔或后颅窝区肿瘤
?	颈椎间盘突出症伴骨软骨病
?	颈部脑膜瘤
?	咽后壁肿瘤
?	脊髓硬膜外囊肿
?	脊髓型颈椎病和(或)神经根病变
?	脊髓空洞症
获得性酶缺陷	?
?	成人GM2神经节苷脂沉积症(己糖胺酶A或B缺乏症)
?	葡聚糖体疾病
?	庞贝病(Ⅱ型糖原贮积症)
自身免疫综合征	?
?	单克隆丙种球蛋白病伴运动神经病变
?	多灶性运动神经病变伴/不伴传导阻滞
?	免疫异常性下运动神经元综合症(GM1、GD1b和asialo-GM1抗体)
?	其他运动障碍下运动神经元综合症，包括CIDP
?	多发性硬化症
?	重症肌无力(特别是抗肌肉特异性受体酪氨酸激酶阳性变体)
内分泌异常	?
?	Allgrove综合症
?	糖尿病性肌萎缩
?	胰岛素瘤引起神经病变
?	甲状腺功能亢进伴肌病
?	甲状腺功能减退症伴肌病
?	甲状旁腺功能亢进(原发性)
外源性毒素	?
?	铅，汞，镉，铝，砷，铊，锰，有机农
感染	?
?	药；神经嗜血杆菌，Konzo
?	急性脊髓灰质炎
?	脊髓灰质炎后进行性肌萎缩综合征
?	HIV-1(伴有水肿性脊髓病)
?	HTLV-1相关性脊髓病(热带痉挛性截瘫)
?	神经莱姆症
?	梅毒性肥厚性硬脑膜炎
?	脊髓脑炎，水痘-带状疱疹
?	旋毛虫病
?	布鲁氏菌病，猫抓病
肌病	?
?	朊病毒病
?	恶病质肌病
?	良性肿瘤性肌病
?	抗肌萎缩蛋白缺失性肌病
?	包涵体肌炎
?	炎症性肌病
?	线状体肌病
?	多发性肌炎
?	肉瘤肌炎
肿瘤综合征	?
?	慢性淋巴细胞性白血病
?	髓内胶质瘤
?	淋巴细胞增生性疾病伴有脑脊液中的副蛋白血症和(或)寡克隆区带
?	肺尖肿瘤综合征(Pancoast肿瘤综合征)
?	伴有前角细胞受累的副肿瘤性脑脊髓炎
?	僵人综合征
物理损伤	?
?	电击神经元病
血管性疾病	?
?	辐射诱发的神经丛病和(或)脊髓病
?	动静脉畸形
?	延髓内侧综合征
?	中风
?	血管炎
其他神经系统疾病	?
?	西太平洋非典型MND/ALS(关岛，新几内亚，日本纪伊半岛)
?	加勒比非典型MND-痴呆-PSP(瓜德罗普岛)
?	青少年发病的马德拉斯型MND/ALS(印度南部)
?	伴有MND/ALS的额颞叶痴呆(包括伴有肌萎缩的皮克病)
?	多系统萎缩
?	橄榄脑桥小脑萎缩综合征
?	原发性侧索硬化(与ALS无关的亚型)
?	进行性脑脊髓炎伴僵直
?	进行性核上性麻痹
?	遗传性痉挛性截瘫(有远端肌萎缩的亚型)
?	进行性脊髓性肌萎缩(与ALS无关的亚型)
?	延髓性肌肉萎缩伴或不伴动力蛋白激活蛋白或雄激素受体突变
?	脊髓性肌萎缩Ⅰ- Ⅳ
?	Brown-Vialetto-van Laere综合征(早发性延髓和脊髓性ALS伴感音神经性耳聋)
?	Fazio-Londe综合征(婴儿进行性延髓麻痹)
?	Harper-Young综合征(喉和远端脊髓性肌萎缩)
?	单纯性散发性脊髓性肌萎缩(良性局灶性肌萎缩，包括平山病)
?	以运动症状为主的多神经性病变(如遗传性运动感觉神经病2型、遗传性运动神经病5型)
?	家族性淀粉样多发性神经病变
?	良性的自发性收缩
?	肌纤维颤搐

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