Musculardystrophy分析.pptVIP

What disease did the child suffer from? Muscular Dystrophies肌营养不良症 Wang Suobin Department of Neurology Xuanwu Hospital You Should Know: 1.?? the inheritance pattern and clinical features of Duchenne/Becker muscular dystrophy 2.???how to diagnose a patient with Duchenne muscular dystrophy 3.???the category of muscular dystrophies Definition of Muscular Dystrophies The muscular dystrophies are progressive hereditary degenerative diseases of skeletal muscles.(遗传性骨骼肌变性疾病） Many are now known to be secondary to abnormalities to one of the structural muscle proteins.（肌肉蛋白的异常） Clinical Features of MDs Muscular weakness and atrophy Intact sensibility Heredofamilial incidence Classification of MDs Pseudohypertrophic muscular dystrophies Dystrophin-deficient dystrophy ---Dystrophinopathies（Duchenne and Becker) Limb girdle muscular dystrophy (LGMD) Facioscapulohumeral muscular dystrophy(FSHD) Oculopharyngeal muscular dystrophy (OPMD) Distal muscular dystrophy Emery-Dreifuss muscular dystrophy Congenital muscular dystrophy Different distribution of muscle weakness and atrophy 1. Duchenne /Becker 2. Emery-Dreifuss 3. Limb-girdle 4. Fascioscapulohumeral 5. Distal 6. Oculopharyngeal The Inheritance Pattern of Muscular Dystrophies Sex-linked MDs Duchenne （杜兴型） Becker（贝克型） Emery-Dreifuss Autosomal dominant MDs Fascioscapulohumeral （面肩肱型） Limb-girdle(肢带型LGMD1） Distal （远端型） Ocular （眼型） Oculopharyngeal（眼咽型） Autosomal recessive MD -limb-girdle form(LGMD2) Pseudohypertrophic  Muscular Dystrophies Etiology and Pathogenesis Mutations of dystrophin gene The largest gene Located on the short arm of the X chromosome (Xp21) Approximately 3 million base pairs in length Encoding 79 exons Loss of dystrophin protein(抗肌萎缩蛋白） A 427kd protein Localized to the sarcolemma（肌膜） present in skeletal, cardiac muscle, cerebral cortex, etc Function of Dystrophin Dystrophin is a component of the plasmamembrane cytoskeleton （细胞骨架） It forms the structural basis for mechanica