精品（肌营养不良）课件.ppt

The molecular basis of muscular dystrophy(肌营养不良) Wenya Hou Xue Jing Yitang Wang Jiezhong Zhang OUTLINE INTRODUCTION Duchenne muscular dystrophy (DMD) Dysfelin Therapeutic Approaches and perspective a quarter of a million kids and adults are living with the disease, so chances are you may know someone who has it. What is Muscular Dystrophy? The muscular dystrophies (MD) are a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. Some forms of MD are seen in infancy or childhood, while others may not appear until middle age or later. Muscular dystrophies in general are a group of genetic, degenerative diseases primarily affecting voluntary muscles. Healthy muscle tissue (left). Muscular dystrophy (right). HOW TO RECOGNIZE IF MUSCLE WEAKNESS IS CAUSED BY MUSCULAR DYSTROPHY Mostly affects boys (rarely girls). Often brothers or male relatives have same problem. First signs appear around ages 3 to 5: the child may seem awkward or clumsy, or he begins to walk tiptoe because he cannot put his feet flat. Runs strangely. Falls often. Problem gets steadily worse over the next several years. HOW TO RECOGNIZE IF MUSCLE WEAKNESS IS CAUSED BY MUSCULAR DYSTROPHY Muscle weakness first affects feet, fronts of thighs, hips, belly, shoulders, and elbows. Later, it affects hands, face, and neck muscles. Most children become unable to walk by age 10. May develop a severe curve of the spine. Heart and breathing muscles also get weak. Child usually dies before age 20 from heart failure. There are probably nine types of muscular dystrophy. Duchenne muscular dystrophy (DMD) Becker muscular dystrophy (BMD) Emery-Dreifuss muscular dystrophy (EDMD) Limb-girdle muscular dystrophy (LGMD) Facioscapulohumeral muscular dystrophy (FSHD) Myotonic (pronounced: my-uh-tah-nick) dystrophy (MMD) Oculopharyngeal Muscular Dystrophy (OPMD) Distal Muscular Dystrophy (DD) Congenital muscular dystrophy (CMD