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Trends in Muscular Dystrophy Research

Editat de V. N. Burgess
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en Limba Engleză Carte Hardback – 18 Jul 2005
The muscular dystrophies (MD) are a group of genetic diseases characterised by progressive weakness and degeneration of the skeletal muscles which control movement. There are many forms of muscular dystrophy, some noticeable at birth (congenital muscular dystrophy), others in adolescence (Becker MD), but the 3 most common types are Duchenne, facioscapulohumeral, and myotonic. These three types differ in terms of pattern of inheritance, age of onset, rate of progression, and distribution of weakness. Duchenne MD primarily affects boys and is the result of mutations in the gene that regulates dystrophin -- a protein involved in maintaining the integrity of muscle fibre. Onset is between 3-5 years and progresses rapidly. Most boys become unable to walk at 12, and by 20 have to use a respirator to breathe. Facioscapulohumeral MD appears in adolescence and causes progressive weakness in facial muscles and certain muscles in the arms and legs. It progresses slowly and can vary in symptoms from mild to disabling. Myotonic MD varies in the age of onset and is characterised by myotonia (prolonged muscle spasm) in the fingers and facial muscles; a floppy-footed, high-stepping gait; cataracts; cardiac abnormalities; and endocrine disturbances. Individuals with myotonic MD have long faces and drooping eyelids; men have frontal baldness. This volume presents leading-edge research results on MD.
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Specificații

ISBN-13: 9781594543753
ISBN-10: 1594543755
Pagini: 288
Ilustrații: b/w illus
Dimensiuni: 179 x 252 x 19 mm
Greutate: 0.66 kg
Editura: Nova Science Publishers Inc

Cuprins

Preface. Limb Girdle Muscular Dystrophy Type 2A: From Diagnosis Towards the Understanding of Pathogenic Mechanism; Limb Girdle Muscular Dystrophyin the Mumbai Region, India; Muscle-Eye-Brain Disease: A New Pathogenic Mechanism for Muscular Dystrophy and Abnormal Neuronal Migration; Studies of Steroid Treatment in MDX Mouse Muscular Dystrophy; Progress in Muscular Dystrophies Myotonic Dystrophy Type 1 and 2; Myotonic Dystrophy Type 1: A Model of Metabolic Syndrome Expression; Central Nervous System Lesions of Fukuyama Type Congenital Muscular Dystrophy: A Role of Astrocytes for the Pathogenesis; Clinical and Genetic Heterogeneity of Congenital Muscular Dystrophies with Particular Reference to Fukuyama-type Congenital Muscular Dystrophy; The Contribution of Protein Analysis in the Diagnosis of Neuromuscular Diseases; Expression and distribution of Complement Regulatory Proteins in Duchenne Muscular Dystrophy, Polymyositis, and X-linked Vacuolated Myopathy; Index.