4 edition of Pathogenesis and therapy of Duchenne and Becker muscular dystrophy found in the catalog.
Pathogenesis and therapy of Duchenne and Becker muscular dystrophy
|Statement||editors, Byron A. Kakulas, Frank L. Mastaglia.|
|Contributions||Kakulas, Byron A. 1932-, Mastaglia, Frank L., Neuromuscular Foundation of Western Australia.|
|LC Classifications||RJ482.D78 P37 1990|
|The Physical Object|
|Pagination||xiv, 273 p. :|
|Number of Pages||273|
|LC Control Number||89024144|
Duchenne muscular dystrophy (OMIM#) is a devastating inherited neuromuscular disorder with an incidence of 1 in live male births. Although the responsible gene and its product, dystrophin, Cited by: 9 year old boy with Becker muscular dystrophy with epilepsy and dysgnosia induced by duplication mutation of Dystrophin gene (BMC Neurol ;) 13 year old boy with a mutation in DMD causing Becker muscular dystrophy associated with intellectual disability (J Dev Behav Pediatr ;) ; 18 year old man with a case of Becker muscular dystrophy .
The rather meaningless term dystrophy, which literally means “deficient nutrition,” was popularized toward the close of the nineteenth century, when the pathogenesis of the muscular dystrophies was totally mysterious . With advances of molecular genetics, the pathogenesis . Duchenne muscular dystrophy (DMD) is associated with the most severe clinical symptoms. Becker muscular dystrophy (BMD) has a similar presentation to DMD but a relatively milder clinical course. Glucocorticoid treatment and potential disease-modifying therapies for Duchenne and Becker muscular dystrophy .
Duchenne muscular dystrophy is a devastating inherited neuromuscular disorder that affects one in live male births. Although the responsible gene and its product, dystrophin, have been. Duchenne muscular dystrophy (DMD) is a severe type of muscular dystrophy. Muscle weakness usually begins around the age of four in boys and worsens quickly. Muscle loss typically occurs first in Causes: Genetic (X-linked recessive).
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The identification of the gene altered by mutations in Duchenne and Becker muscular dystrophy was one of the earliest examples of this paradigm. The nearly 30 years of research partly outlined here Cited by: Pathogenesis and Therapy of Duchenne and Becker Muscular Dystrophy: Medicine & Health Science Books @ ed by: Keywords: Duchenne muscular dystrophy, DMD, gene therapy, muscle Duchenne muscular dystrophy (DMD) is caused by mutations in the gene that encodes the kDa cytoskeletal protein dystrophin.
Increased knowledge of the function of dystrophin and its role in muscle has led to a greater understanding of the pathogenesis of by: AAN members must change their passwords on the AAN site. For assistance, please contact: AAN Members () or () (International) Non-AAN Member Author: M.
Bashar. Current molecular genomic approaches to human genetic disorders have led to an explosion in the identification of the genes and their encoded proteins responsible for these disorders. The identification of the gene altered by mutations in Duchenne and Becker muscular dystrophy Cited by: Pathogenesis and Therapy of Duchenne and Becker Muscular Dystrophy Byron A.
Kakulas and Frank L. Mastaglia (eds) Raven Press, $ (xiv + pages) ISBN 0. Current Duchenne muscular dystrophy therapeutic targets can be grouped into six categories. Only the first addresses the primary genetic defect (resulting in the loss of dystrophin protein).
The rest address downstream aspects of the pathogenesis. 1) Replacement of dystrophin/utrophin (µdys gene therapy. Duchenne Muscular Dystrophy, an inherited and progressive muscle wasting disease, is one of the most common single gene disorders found in the developed world.
In this fourth edition of the classic. Duchenne and Becker Muscular Dystrophies. DMD and BMD are X-linked disorders that have a combined estimated prevalence of 1 in males (Romitti et al., ).DMD affects approximately 1.
Duchenne muscular dystrophy (DMD) is a devastating disease featuring skeletal muscle wasting, respiratory insufficiency, and cardiomyopathy. Historically, respiratory failure has Cited by: 3.
Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are X-linked muscular dystrophies. The recent isolation of the defective gene in DMD/BMD and the identification of its protein product, dystrophin, have revolutionized our ability to diagnose DMD/BMD and promoted speculation regarding the application of gene by: Abstract.
Duchenne muscular dystrophy (DMD) is a lethal X-linked inherited muscle-wasting disease (Duchenne, ; Gowers, ; Emery, ). It is the most common genetic neuromuscular Cited by: 3. Introduction. Duchenne muscular dystrophy (DMD; OMIM ) is an X‐linked recessive disorder that affects 1 in 3, males and is caused by mutations in the dystrophin gene (Blake et al, Cited by: Duchenne muscular dystrophy and Becker muscular dystrophy are X-linked recessive disorders characterized by progressive proximal muscle weakness caused by muscle fiber degeneration.
Becker dystrophy. Duchenne muscular dystrophy is a devastating inherited neuromuscular disorder that affects one in live male births. Although the responsible gene and its product, dystrophin, have been characterized for more than 15 years, and a mouse model (mdx) has been developed, comprehensive understanding of the mechanism leading from the absence of dystrophin to the muscular Cited by: Muscular dystrophies are a group of genetic conditions characterized by progressive muscle weakness and wasting (atrophy).
The Duchenne and Becker types of muscular dystrophy are two related conditions that primarily affect skeletal muscles, which are used for movement, and heart (cardiac) forms of muscular dystrophy.
Pathogenesis and therapy of Duchenne and Becker muscular dystrophy Author: Byron A Kakulas ; Frank L Mastaglia ; Neuromuscular Foundation of Western Australia. This is the second edition of a highly acclaimed monograph.
It is currently the only book which considers Duchenne Muscular Dystrophy (DMD) in detail and critically evaluates the extensive published. Becker muscular dystrophy (BMD) is an inherited condition that causes progressive weakness and wasting of the skeletal and cardiac (heart) muscles.
It primarily affects males. The age. Brooke MH, Fenichel GM, Griggs RC, et al. Duchenne muscular dystrophy: patterns of clinical progression and effects of supportive therapy. Neurology. Apr. 39(4) [Medline].
pathogenesis, prevention, genetic counselling, management. Occupational Therapy and Duchenne muscular dystrophy Kate Stone, Wiley-Blackwell () (ISBN: ) Practical guide for OT’S and others who provide service to people with Duchenne muscular dystrophy .Dystrophinopathies are diseases caused by mutations in the Duchenne Muscular Dystrophy gene (DMD) encoding the dystrophin ing on the type of mutation, patients develop either the severe DMD or the milder Becker Muscular Dystrophy.
Although substantial effort was made, the pathophysiology Cited by: The clinical characteristics and diagnosis of the Duchenne and Becker muscular dystrophies are reviewed here.
Other aspects are discussed separately. (See "Duchenne and Becker muscular dystrophy: Genetics and pathogenesis" and "Duchenne and Becker muscular dystrophy: Management and prognosis".) Other muscular .