腓骨肌萎缩症PPT.ppt

第十六章 神经系统遗传病;Genetic disease of nervous system 1、 Introduction 2、 Friedreich Ataxia 3、 Spinocerebellar Ataxia(SCA) 4、 Charcot-Marie-Tooth Disease 掌握： 1、Friedreich型共济失调的主要临床特征、临床表现。 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 General Introduction;Classification and Genetic pattern;1.Monogenic disorders：The base replacement, Insert, Deletion, repeat or abnormal expansion of single gene. Autosomal dominant disorders  Autosomal recessive disorders X-linked dominant disorders X-linked recessive disorders 动态突变性遗传Common Diseases: Charcot-Marie-Tooth, Duchenne muscular dystrophy, Wilson Disease, Hereditary Ataxia ;2. polygenic disorders: are influenced by genes in complex ways which are poorly understood but involve the interaction of multiple genes and interactions between genes and environmental factors The common polygenic disorders: Epilepsy, migraine and arteriosclerosis.; 3. 线粒体遗传病(mitochondrial disorders ) Mitochondrial disorders are caused by mutation of mitochondrion (number or structure)，They are maternal inheritance. optic atrophy and mitochondrial encephalomyopathy. 4.Chromosome disorders Chromosome disorders are caused by the number or construction abnormalities of chromosome. for example：Down’syndrome ;Symptoms and physical signs; 1.Common symptoms: Mental retardation and Disturbance of behavior Language dysfunction, dementia Seizure、Nystagmus, Paraesthesia (感觉异常) Involuntary movement(不自主运动)、 Ataxia and Dystonia(肌张力障碍) Muscle atrophy 还可有五官畸形、脊柱裂、弓型足、指（趾）畸形、皮肤毛发异常和肝脾肿大； ; 2.Specific symptom： 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(pedigree analysis)可判断有无遗传病和区分类型 (3). 常规辅助检查: Include biochemistry, Electrophysiology, Imaging studies and Pathology对诊断和鉴别诊断