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Muscular dystrophy diagnosis delayed almost 2.5 years in boys
May 12, 2009Simple, inexpensive blood test could speed diagnostic journey
Boys show signs of Duchenne Muscular Dystrophy (DMD) for 2 ½ years before they obtain a diagnosis and disease-specific treatment, about the same length of delay children have endured for the past 20 years despite advances in genetic testing and treatment. A simple and inexpensive blood test for any boy with symptoms and signs of motor delays and abnormalities could speed up the process while pilot studies on newborn screening are conducted.
Recent University of Rochester Medical Center research published in the Journal of Pediatrics shows that boys who are eventually diagnosed with DMD show signs of the disease for more than a year before families bring it to the attention of a health care provider. It takes another year before these children are screened with a serum CK test - a simple and inexpensive blood test for creatine kinase, an enzyme that leaks out of damaged muscle.
"The CK test is an easily available and cheap test," said Emma Ciafaloni, M.D., associate professor of Neurology at the University of Rochester Medical Center and author of the paper. "If they get the test and the diagnosis earlier, they can start treatment earlier and access the best care in the appropriate clinics and the best available services in their school. Early diagnosis will avoid unnecessary and costly tests and numerous unnecessary referrals to the wrong specialists. Parents and maternal relatives can also seek genetic counseling before they plan to have more children."
DMD, the most common muscular dystrophy in children is a particularly devastating form of the disease that affects 1 in 3,500 boys. It is an X-linked recessive genetic disease with onset of symptoms in boys between 2 and 6 years old. It progresses rapidly, rendering patients wheelchair bound by 10 or 11 years old. Most patients die in their mid-late 20s.
The Centers for Disease Control and Prevention-funded study analyzed medical records of 453 boys born since 1982 with DMD or Becker Muscular Dystrophy in the Muscular Dystrophy Surveillance, Tracking and Research Network (MD STARnet). Of those, 156 boys had no known family history of muscular dystrophy. The first signs of the disease in those boys were seen at an average of 2 ½ years old, but the average age when families brought the signs to the attention of a health care provider was 3 ½ years old. The average age for children to receive the CK test or to see a neurologist was more than 4 ½ years old.
"We need to educate families to bring delays or abnormalities in motor skill - such as frequent falls, difficulty jumping, running or claiming stairs - to the attention of their health care providers as soon as they see them. And we need to educate pediatricians, family practitioners and all providers involved in the care of young children to recognize the early signs of DMD and to order a CK test if they see any motor delays or abnormalities," Ciafaloni said. "The sooner we start treatment, the more potential we have for delaying the disease's progression.
University of Rochester Medical Center
"The CK test is an easily available and cheap test," said Emma Ciafaloni, M.D., associate professor of Neurology at the University of Rochester Medical Center and author of the paper. "If they get the test and the diagnosis earlier, they can start treatment earlier and access the best care in the appropriate clinics and the best available services in their school. Early diagnosis will avoid unnecessary and costly tests and numerous unnecessary referrals to the wrong specialists. Parents and maternal relatives can also seek genetic counseling before they plan to have more children."
DMD, the most common muscular dystrophy in children is a particularly devastating form of the disease that affects 1 in 3,500 boys. It is an X-linked recessive genetic disease with onset of symptoms in boys between 2 and 6 years old. It progresses rapidly, rendering patients wheelchair bound by 10 or 11 years old. Most patients die in their mid-late 20s.
The Centers for Disease Control and Prevention-funded study analyzed medical records of 453 boys born since 1982 with DMD or Becker Muscular Dystrophy in the Muscular Dystrophy Surveillance, Tracking and Research Network (MD STARnet). Of those, 156 boys had no known family history of muscular dystrophy. The first signs of the disease in those boys were seen at an average of 2 ½ years old, but the average age when families brought the signs to the attention of a health care provider was 3 ½ years old. The average age for children to receive the CK test or to see a neurologist was more than 4 ½ years old.
"We need to educate families to bring delays or abnormalities in motor skill - such as frequent falls, difficulty jumping, running or claiming stairs - to the attention of their health care providers as soon as they see them. And we need to educate pediatricians, family practitioners and all providers involved in the care of young children to recognize the early signs of DMD and to order a CK test if they see any motor delays or abnormalities," Ciafaloni said. "The sooner we start treatment, the more potential we have for delaying the disease's progression.
University of Rochester Medical Center
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Possible 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.
Researchers make progress toward early identification of muscular dystrophy
The 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.
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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 (Diseases and Disorders) by Melissa Abramovitz (Author) |
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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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Muscular Dystrophy (Genetic and Developmental Diseases and Disorders) by Paula Johanson (Author) |
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Christmas Crackers Muscular Dystrophy (Primary Contributor) |
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Knuckleball Starring: Brett Leake, Derek Leake, Francis Leake, Sylvia Reinhardt, Les McCurdy Directed By: Ken Sons Also With: Ken Sons (Producer), Ken Sons (Writer) Knuckleball is the story of Brett Leake who was diagnosed with Muscular Dystrophy at 13. With the support of his family, he has become a nationally recognized comedian appearing on The Tonight Show with Jay Leno five times. Each year as the disease progresses, he finds new ways to bring joy into his life and into the lives of those around him.Whenever a door closes, he finds a new door to open. His stand-up/sit-down comedy has taken him all over the world to become an inspiration to everyone he comes in contact with. Knuckleball shows how Muscular Dystrophy became a family issue and his brilliant wit and unfaltering strength give us a roadmap of how to live the good life. This product is manufactured on demand using DVD-R recordable media. Amazon.com's standard return policy will... |
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Muscular Dystrophy Awareness Ribbon Mouse Pad by MyHeritageWear.com The Muscular Dystrophy Ribbon proudly displayed on a mouse pad. There is no better way to achieve awareness for the meaning of the Muscular Dystrophy Ribbon than to display it on your mouse pad for everyone to see. The mouse pad measures at 9.25 x 7.75, it is machine washable, and the colors will not fade or run. Start gaining awareness today by presenting your Muscular Dystrophy Ribbon mouse pad at work or at home. It is certain to keep your mouse rolling in style all while gaining support and awareness! |
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Christmas Crackers by Muscular Dystrophy The Muscular Dystrophy Campaign supports over 60 different neuromuscular conditions all involving the weakening of the muscles. All sales every cd sold will goto the campaign to help fund more research. | |
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