腓骨肌萎缩症

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1、第十六章神经系统遗传病GeneticDiseaseoftheNervousSystemDepartmentofNeurologySecondAffiliatedHospitalHarbinMedicalUniversityGeneticdiseaseofnervoussystem1、Introduction2、FriedreichAtaxia3、SpinocerebellarAtaxia(SCA)4、Charcot-Marie-ToothDisease掌握：1、Friedreich型共济失调的主要临床特征、临床表现

2、。2、脊髓小脑性共济失调的临床表现、诊断及鉴别诊断。熟悉：1、Friedreich型共济失调的病因、发病机制。2、脊髓小脑性共济失调的病因、发病机制。3、腓骨肌萎缩症(CMT)的临床表现、诊断及鉴别诊断。第一节GeneralIntroduction1.ConceptionGeneticdiseaseofthenervoussystem是指由于生殖细胞（germcell）或受精卵（zygote）中的遗传物质在数量、结构或功能上发生改变，使发育的个体出现以神经系统缺欠(deficiency)为主要临床表现的疾病。Con

3、genitalDiseaseFamilyDiseaseClassificationandGeneticpatternMonogenicDisordersPolygenicDisordersMitochondrialDisordersChromosomeDisorders1.Monogenicdisorders：Thebasereplacement,Insert,Deletion,repeatorabnormalexpansionofsinglegene.AutosomaldominantdisordersAutos

4、omalrecessivedisordersX-linkeddominantdisordersX-linkedrecessivedisorders动态突变性遗传CommonDiseases:Charcot-Marie-Tooth,Duchennemusculardystrophy,WilsonDisease,HereditaryAtaxia2.polygenicdisorders:areinfluencedbygenesincomplexwayswhicharepoorlyunderstoodbutinvolve

5、theinteractionofmultiplegenesandinteractionsbetweengenesandenvironmentalfactorsThecommonpolygenicdisorders:Epilepsy,migraineandarteriosclerosis.3.线粒体遗传病(mitochondrialdisorders)Mitochondrialdisordersarecausedbymutationofmitochondrion(numberorstructure)，Theyarem

6、aternalinheritance.opticatrophyandmitochondrialencephalomyopathy.4.ChromosomedisordersChromosomedisordersarecausedbythenumberorconstructionabnormalitiesofchromosome.forexample：Down’syndromeSymptomsandphysicalsignsClinicalfeaturesareofdiversity,includecommonand

7、specificsymptomsCommonsymptoms:Specificsymptoms1.Commonsymptoms:MentalretardationandDisturbanceofbehaviorLanguagedysfunction,dementiaSeizure、Nystagmus,Paraesthesia(感觉异常)Involuntarymovement(不自主运动)、AtaxiaandDystonia(肌张力障碍)Muscleatrophy还可有五官畸形、脊柱裂、弓型足、指（趾）畸形、皮肤毛发

8、异常和肝脾肿大；2.Specificsymptom：肝豆状核变性—K-F环、共济失调毛细血管扩张症—结合膜毛细血管扩张结节性硬化症—面部皮脂腺瘤神经纤维瘤—皮肤牛奶咖啡斑4.Diagnosis:(1).临床资料的搜集：尤其是发病年龄、性别、独特的症状和体征，如牛奶咖啡斑(2).系谱分析(pedigreeanalysis)可判断有无遗传病和区分类型(3).常规