-肌肉疾病课件.ppt

更多医学精品更多医学精品尽在医学吧尽在医学吧肌肉疾病复旦大学神经病学系复旦大学神经病学系概述概述骨骼肌组成骨骼肌组成肌纤维类型肌纤维类型I I型纤维型纤维慢收缩纤维慢收缩纤维IIII型纤维型纤维快收缩纤维快收缩纤维ATPase pH 9.4 stain“Checkerboard”pattern oftype I（Light）and II（Dark）fibers 肌肉疾病分类肌肉疾病分类肌肉本身肌肉本身通道病通道病通道病通道病肌营养不良肌营养不良肌营养不良肌营养不良炎症性肌病炎症性肌病炎症性肌病炎症性肌病代谢性肌病代谢性肌病代谢性肌病代谢性肌病先天性肌病先天性肌病先天性肌病先天性肌病神经肌肉接头神经肌肉接头突触前膜病变（突触前膜病变（突触前膜病变（突触前膜病变（LESLESLESLES）突触间隙病变（有机磷中毒）突触间隙病变（有机磷中毒）突触间隙病变（有机磷中毒）突触间隙病变（有机磷中毒）突触后膜病变（突触后膜病变（突触后膜病变（突触后膜病变（MGMGMGMG）肌肉疾病特点肌肉疾病特点临床特点临床特点无力：近端、对称无力：近端、对称无力：近端、对称无力：近端、对称无力萎缩无力萎缩无力萎缩无力萎缩感觉：正常感觉：正常感觉：正常感觉：正常腱反射：明显无力区域反射减退腱反射：明显无力区域反射减退腱反射：明显无力区域反射减退腱反射：明显无力区域反射减退肌肉疾病特点肌肉疾病特点肌电图肌电图波幅低、多相短棘波波幅低、多相短棘波波幅低、多相短棘波波幅低、多相短棘波纤颤波、正尖波纤颤波、正尖波纤颤波、正尖波纤颤波、正尖波其他实验室检查其他实验室检查血清血清血清血清CPKCPKCPKCPK（CKCKCKCK）高）高）高）高肌肉活检（肌肉活检（肌肉活检（肌肉活检（fiberfiberfiberfiber、connective tissueconnective tissueconnective tissueconnective tissue）Muscular dystrophyMuscular dystrophy refers to a group of genetic refers to a group of genetic diseases characterized by progressive weakness diseases characterized by progressive weakness and degeneration of the skeletal muscles which and degeneration of the skeletal muscles which control movement.The major forms of MDcontrol movement.The major forms of MD include include Duchenne,Becker,limb-girdle,Duchenne,Becker,limb-girdle,facioscapulohumeral,oculopharyngeal,distal and facioscapulohumeral,oculopharyngeal,distal and Emery-Dreifuss.Emery-Dreifuss.Duchenne is the most common Duchenne is the most common form of MD affecting children.MD can affect form of MD affecting children.MD can affect people of all ages.Although some forms first people of all ages.Although some forms first become apparent in infancy or childhood,others become apparent in infancy or childhood,others may not appear until middle age or later.may not appear until middle age or later.病病 因因FSHD?normalDMDDystrophinDystrophin免疫染色免疫染色BMD特征性症状和体征特征性症状和体征特征性症状和体征特征性症状和体征假肥大型假肥大型假肥大型假肥大型 鸭步鸭步鸭步鸭步 GowersGowersGowersGowers现象现象现象现象 翼状肩翼状肩翼状肩翼状肩 假肥大假肥大假肥大假肥大 足跟着地困难足跟着地困难足跟着地困难足跟着地困难肢带型肢带型肢带型肢带型面肩肱型面肩肱型面肩肱型面肩肱型 蝠翼、衣架蝠翼、衣架蝠翼、衣架蝠翼、衣架Gowers现象现象CPKCPKCPKCPK、LDHLDHLDHLDH、ALTALTALTALT、ASTASTASTAST升高（升高（升高（升高（DMDDMDDMDDMD、BMDBMDBMDBMD）肌电图示肌源性损害肌电图示肌源性损害肌电图示肌源性损害肌电图示肌源性损害实验室检查实验室检查基因检测（基因检测（ChamberlianChamberlian多重多重PCRPCR，9 9对引物分别）只能检对引物分别）只能检测基因缺失（测基因缺失（2/32/3，另，另1/31/3点突变多为研究检测）点突变多为研究检测）1 2 3 4 51 myositis2 LGMD3 normal4 DMD5 DMDdystrophindystrophin诊断和鉴别诊断诊断和鉴别诊断年龄、性别年龄、性别年龄、性别年龄、性别病程病程病程病程无力分布无力分布无力分布无力分布肌酶和肌电图肌酶和肌电图肌酶和肌电图肌酶和肌电图基因、病理（组织病理、免疫组化基因、病理（组织病理、免疫组化基因、病理（组织病理、免疫组化基因、病理（组织病理、免疫组化）肢带型肌营养不良肢带型肌营养不良肢带型肌营养不良肢带型肌营养不良 运动神经元病（运动神经元病（运动神经元病（运动神经元病（SMASMASMASMA）多发性肌炎多发性肌炎多发性肌炎多发性肌炎运动神经元病运动神经元病SMA多肌炎多肌炎重症肌无力重症肌无力myasthenia gravisMyasthenia gravisMyasthenia gravis is a chronicis a chronic autoimmune autoimmune disease disease characterized by weakness of the skeletal muscles.Thecharacterized by weakness of the skeletal muscles.The hallmarkhallmark of myasthenia gravis is muscle weakness that of myasthenia gravis is muscle weakness that increases during periods of activity and improves after increases during periods of activity and improves after periods of rest.Muscles that control eye and eyelid periods of rest.Muscles that control eye and eyelid movements,facial expression,chewing,talking,and movements,facial expression,chewing,talking,and swallowing are often,but not always,involved.The swallowing are often,but not always,involved.The muscles that control breathing and neck and limb muscles that control breathing and neck and limb movements may also be affected.Myasthenia gravis is movements may also be affected.Myasthenia gravis is caused by acaused by a defect defect in the transmissionin the transmission of nerve of nerve impulses to muscles.In myasthenia gravis,antibodies impulses to muscles.In myasthenia gravis,antibodies produced by the bodys own immune system block,produced by the bodys own immune system block,alter,or destroy thealter,or destroy the receptors for acetylcholine.receptors for acetylcholine.blockdestroyMG can be considered aMG can be considered a B cell mediated B cell mediated diseasedisease,as antibodies(a B cell product)as antibodies(a B cell product)against AChR are responsible for the disease.against AChR are responsible for the disease.However,the importance of T cells in However,the importance of T cells in pathogenesis of MG is becoming increasingly pathogenesis of MG is becoming increasingly apparent.The thymus is the central organ inapparent.The thymus is the central organ in T cell mediated immunityT cell mediated immunity,and thymic and thymic abnormalities such as thymic hyperplasia or abnormalities such as thymic hyperplasia or thymoma are well recognized in myasthenic thymoma are well recognized in myasthenic patientspatients (90%)(90%)病病 理理临床分型临床分型单纯眼肌型单纯眼肌型延髓肌型延髓肌型全身肌无力型全身肌无力型脊髓肌无力型（对称、近端）脊髓肌无力型（对称、近端）肌萎缩型肌萎缩型儿童重症肌无力、新生儿重症肌无力儿童重症肌无力、新生儿重症肌无力改良改良改良改良OssermanOssermanOssermanOsserman分型分型分型分型、aaaa、bbbb、（见表）（见表）（见表）（见表）美国重症肌无力基金会美国重症肌无力基金会美国重症肌无力基金会美国重症肌无力基金会（MGFAMGFAMGFAMGFA）分型分型分型分型、aaaa、bbbb、aaaa、bbbb、aaaa、bbbb、国内常用分型国内常用分型国内常用分型国内常用分型单纯眼肌、延髓肌型、脊髓肌型、全身型、单纯眼肌、延髓肌型、脊髓肌型、全身型、单纯眼肌、延髓肌型、脊髓肌型、全身型、单纯眼肌、延髓肌型、脊髓肌型、全身型、肌萎缩型肌萎缩型肌萎缩型肌萎缩型I IOcular myastheniaOcular myastheniaIIaIIaMild generalized myasthenia with slow progression,Mild generalized myasthenia with slow progression,no crises,drug-responsiveno crises,drug-responsiveIIbIIbModerately severe generalized myasthenia,severe Moderately severe generalized myasthenia,severe skeletal and bulbar involvement but no crises,drug skeletal and bulbar involvement but no crises,drug response less than satisfactoryresponse less than satisfactoryIIIIIIAcute fulminant myasthenia,rapid progression of Acute fulminant myasthenia,rapid progression of severe symptoms with respiratory crises and poor severe symptoms with respiratory crises and poor drug response,high incidence of thymoma,high drug response,high incidence of thymoma,high mortalitymortalityIVIVLate severe myasthenia,symptoms same as III,but Late severe myasthenia,symptoms same as III,but resulting from steady progression over 2 years from resulting from steady progression over 2 years from class I to class IIclass I to class II危象危象（呼吸肌无力、麻痹不能维持正常通气功能（呼吸肌无力、麻痹不能维持正常通气功能（呼吸肌无力、麻痹不能维持正常通气功能（呼吸肌无力、麻痹不能维持正常通气功能的危急状况）的危急状况）的危急状况）的危急状况）肌无力危象（疾病发展、感染、药物使用不当）肌无力危象（疾病发展、感染、药物使用不当）肌无力危象（疾病发展、感染、药物使用不当）肌无力危象（疾病发展、感染、药物使用不当）胆碱能危象（目前以免疫治疗为主，少见）胆碱能危象（目前以免疫治疗为主，少见）胆碱能危象（目前以免疫治疗为主，少见）胆碱能危象（目前以免疫治疗为主，少见）反拗性危象反拗性危象反拗性危象反拗性危象实验室检查实验室检查70%-80%70%-80%70%-80%70%-80%病人病人病人病人AChRAChRAChRAChR抗体阳性，眼肌型阳性率低抗体阳性，眼肌型阳性率低抗体阳性，眼肌型阳性率低抗体阳性，眼肌型阳性率低 部分部分部分部分SNMGSNMGSNMGSNMG中可测到中可测到中可测到中可测到MuSKMuSKMuSKMuSK抗体抗体抗体抗体合并甲亢者可有合并甲亢者可有合并甲亢者可有合并甲亢者可有T3T3T3T3、T4T4T4T4增高增高增高增高胸腺胸腺胸腺胸腺CTCTCTCT示胸腺增生示胸腺增生示胸腺增生示胸腺增生（60%-75%60%-75%60%-75%60%-75%）或胸腺瘤或胸腺瘤或胸腺瘤或胸腺瘤(10%-15%)(10%-15%)(10%-15%)(10%-15%)RNSRNSRNSRNS低频重复电刺激低频重复电刺激低频重复电刺激低频重复电刺激（3Hz/3Hz/3Hz/3Hz/秒），秒），秒），秒），电位衰减电位衰减电位衰减电位衰减10%10%10%10%以上以上以上以上SFEMGSFEMGSFEMGSFEMG单纤维肌电图：单纤维肌电图：单纤维肌电图：单纤维肌电图：jitterjitterjitterjitter增宽，是最敏感的方增宽，是最敏感的方增宽，是最敏感的方增宽，是最敏感的方法法法法低频（低频（3Hz3Hz）CMAP CMAP 波幅递减达波幅递减达1010以上以上 全身型全身型7575 眼肌型眼肌型5050诊诊 断断疲劳试验疲劳试验新斯的明试验新斯的明试验重复电刺激重复电刺激鉴别诊断鉴别诊断慢性进行性眼外肌麻痹慢性进行性眼外肌麻痹慢性进行性眼外肌麻痹慢性进行性眼外肌麻痹运动神经元病（延髓肌麻痹）运动神经元病（延髓肌麻痹）运动神经元病（延髓肌麻痹）运动神经元病（延髓肌麻痹）急性感染性多发性神经病急性感染性多发性神经病急性感染性多发性神经病急性感染性多发性神经病肌无力综合征肌无力综合征肌无力综合征肌无力综合征高频刺激波幅增加高频刺激波幅增加100%100%以上以上治治 疗疗抗胆碱酯酶药物抗胆碱酯酶药物抗胆碱酯酶药物抗胆碱酯酶药物免疫抑制或调节免疫抑制或调节免疫抑制或调节免疫抑制或调节 激素激素激素激素 硫唑嘌呤硫唑嘌呤硫唑嘌呤硫唑嘌呤 环磷酰胺环磷酰胺环磷酰胺环磷酰胺 血浆交换血浆交换血浆交换血浆交换 静脉丙球静脉丙球静脉丙球静脉丙球胸腺切除胸腺切除胸腺切除胸腺切除危象处理危象处理危象处理危象处理更多医学精品更多医学精品尽在医学吧尽在医学吧