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Researchers make progress toward early identification of muscular dystrophy
June 17, 2009The saying "Knowing is half the battle" is never more true than when discussing early treatment of disease. Muscular dystrophy is one such disease where patients can benefit from early treatment. Now, new research is moving doctors and scientists closer to disease diagnosis in advance of patient symptoms.
A team of University of Birmingham researchers used mice as model animals to study the key proteins involved in two types of muscular dystrophy (MD): the most severe MD form, Duchenne Muscular Dystrophy (DMD), and a more mild form, Limb Girdle MD (LGMD-1c). As described in their new report published in Disease Models & Mechanisms (DMM), dmm.biologists.org, the researchers found disrupted stem cell function and delays of skeletal muscle formation in embryos of MD-like mice. .The severity of these embryonic abnormalities closely corresponded to the severity of symptoms seen in DMD or Limb Girdle MD. This study demonstrates that there are prenatal signs for muscular dystrophy, and suggests that both types of MD might be detected in utero or shortly after birth.
This work has the potential to create a better quality of life for DMD children. It is now clear that early treatment significantly improves life expectancy and quality of life for DMD children. However, diagnosis is often delayed until the disease is well under way, around ages 3-5 years, and treatment thus often begins between ages 4-8 years, when the disease is already established. This new research indicates that understanding these MD-associated proteins can lead to earlier diagnoses and treatment for DMD/LGMD patients. This in turn leads to longer life and enhanced quality of life for individuals affected by these diseases.
Duchenne Muscular Dystrophy is not only the most severe but also the most common form of muscular dystrophy. It is more commonly found in boys, at a rate of 1 in 3500. DMD causes progressive weakness in the skeletal muscles, and most DMD children require a wheelchair by age 11. DMD later results in respiratory muscle and heart muscle failure. This eventually leads to death sometime between the teenage years and early 30s, largely depending on the age that treatment is started. Whereas untreated children die around 17-18 years of age, children who are treated early live longer.
The Company of Biologists
Duchenne Muscular Dystrophy is not only the most severe but also the most common form of muscular dystrophy. It is more commonly found in boys, at a rate of 1 in 3500. DMD causes progressive weakness in the skeletal muscles, and most DMD children require a wheelchair by age 11. DMD later results in respiratory muscle and heart muscle failure. This eventually leads to death sometime between the teenage years and early 30s, largely depending on the age that treatment is started. Whereas untreated children die around 17-18 years of age, children who are treated early live longer.
The Company of Biologists
Muscular Dystrophy Current Events and Muscular Dystrophy News RSSPossible help in fight against muscle-wasting disease
A compound already used to treat pneumonia could become a new therapy for an inherited muscular wasting disease, according to researchers at the University of Oregon and the University of Rochester School of Medicine and Dentistry in New York.
Exon-skipping drug prevents muscle wasting, maintains muscle function in dystrophin deficient mice
An exon skipping PPMO has demonstrated dramatic effects in the prevention and treatment of severely affected, dystrophin and utrophin-deficient mice, preventing severe deterioration of the treated animals and extending their lifespan.
To regenerate muscle, cellular garbage men must become builders
For scientists at the European Molecular Biology Laboratory (EMBL) in Monterotondo, Italy, what seemed like a disappointing result turned out to be an important discovery.
Zoo volunteers help explain mysteries of the genome
As the University of Leicester approaches the 25th anniversary of the discovery of DNA fingerprinting (September 10), Leicester geneticists interested in a particular type of DNA are receiving some help from an unusual band of assistants.
Small molecule inhibits pathology associated with myotonic dystrophy type 1
Researchers at the University of Illinois have designed a small molecule that blocks an aberrant pathway associated with myotonic dystrophy type 1, the most common form of muscular dystrophy.
Researchers identify new function for protein missing in Duchenne muscular dystrophy
Researchers at the University of Minnesota and National Institutes of Health have identified a new function for the protein missing in people with the most common and ultimately lethal form of childhood muscular dystrophy.
Sticky protein helps reinforce fragile muscle membranes
A new study by scientists at the University of Iowa shows why muscle membranes don't rupture when healthy people exercise.
Stem cell surprise for tissue regeneration
Scientists working at the Carnegie Institution's Department of Embryology, with colleagues, have overturned previous research that identified critical genes for making muscle stem cells.
Jumping genes discovery 'challenges current assumptions'
Jumping genes do most of their jumping, not during the development of sperm and egg cells, but during the development of the embryo itself.
New therapy substitutes missing protein in those with muscular dystrophy
Researchers at the University of Minnesota Medical School have discovered a new therapy that shows potential to treat people with Duchenne muscular dystrophy, a fatal disease and the most common form of muscular dystrophy in children.
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Muscular Dystrophy (The Facts) by Alan E.H. Emery (Author) The muscular dystrophies are a group of genetic diseases that severely affect children and adults. For sufferers and their family, the illness presents enormous physical and psychological challenges. Written specifically for people with muscular dystrophy and their families, this book answers many of the questions asked about how and why muscular dystrophy occurs, and how it will affect the life of a recently diagnosed child. As well as presenting the reader with advice and an explanation of muscular dystrophy, the book also guides the reader towards further information on societies and support groups around the world, and reliable internet resources. It also contains a full glossary to aid the reader in their understanding of the disease. The different types of... |
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Muscular Dystrophy in Children: A Guide for Families by Irwin M. Siegel (Author) Written for children with muscular dystrophy (MD) and their families, friends and teachers, this book is a guide through the often-frightening labyrinth of medical care that follows the diagnosis of MD. Forthright, clear, supportive and empowering, the book helps readers understand the significance of the signs and symptoms of the disease, treatment options, the disease's probable course and what may affect it, and choices in directing therapy. This incomparable guide covers: * The diagnosis of childhood muscular dystrophy Early childhood Prepuberty Fractures Adolescence Late problems Caregiver's self-help guide New research Suggestions for further reading. |
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Muscular Dystrophy: theFacts by Alan Emery (Author) European Neuromuscular Centre, Baarn, The Netherlands. Discusses living with muscular dystrophy and coping with its physical effects. Written for people with this illness and their families, it answers many questions asked by those diagnosed with muscular dystrophy. Previous edition: c1994. Softcover. |
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Duchenne Muscular Dystrophy: Advances in Therapeutics (Neurological Disease and Therapy) by Jeffrey S. Chamberlain (Editor), Thomas A. Rando (Editor) Duchenne Muscular Dystrophy (DMD) is one of the most prevalent genetic disorders of childhood and currently stands as an incurable condition. This authoritative guide provides a clear overview of the latest current and experimental approaches to the treatment of DMD and examines the clinical, genetic, and pathophysiological aspects of the disease in the context of emerging therapeutic modalities. The only available source on the subject, this reference emphasizes the importance of accurate diagnosis, carrier detection, and genetic counseling, and supplies state-of-the-art contributions on pharmacological interventions, regenerative medicine, and gene therapy. |
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Moonrise: One Family, Genetic Identity, and Muscular Dystrophy by Penny Wolfson (Author) In this riveting and thought-provoking memoir about her family, her son Ansel, and his progressive disability, Penny Wolfson embarks on a quest that explores special education, giftedness, prenatal testing, and the genes she shares with her mother, sisters, and son. While Moonrise is an eloquent narrative of one family, it also asks profound questions about our genetic selves. |
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The Muscular Dystrophies by Alan E. H. Emery (Editor) The muscular dystrophies are an important group of inherited disorders. They are characterized by muscle wasting and weakness, but vary considerably in their clinical manifestations and severity. This text reviews our understanding of the most important of these disorders. In many instances, the genes and protein products responsible for the dystrophies have been identified and it is now possible to establish a precise diagnosis, detect preclinical cases, identify carriers and offer prenatal dianostic testing. The book goes on to describe the opportunities for management of the symptoms through respiratory care, physiotherapy and surgical correction of contracture, and examines the potential, in the future, for effective treatment utilizing the new techniques of gene and cell therapy.... |
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