Muscular dystrophy diagnosis delayed almost 2.5 years in boys

May 11, 2009

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 . 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 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.

Source: University of Rochester Medical Center (news : web)

Explore further: Malaysia quarantines 64 villagers over MERS virus

add to favorites email to friend print save as pdf

Related Stories

Scientist clears hurdles for muscular dystrophy therapy

Oct 29, 2008

Approximately 250,000 people in the United States have some form of muscular dystrophy. Duchenne muscular dystrophy (DMD) is the most common type of the disease, predominantly affecting males. Boys with DMD will lose the ...

Recommended for you

Malaysia quarantines 64 villagers over MERS virus

46 minutes ago

Malaysia has quarantined 64 people in a southern village after one of its residents become the country's first person to die of a respiratory illness that is spreading from the Middle East, local media reported Thursday.

Spate of Mideast virus infections raises concerns

1 hour ago

A recent spate of infections from a frequently deadly Middle East virus is raising new worries about efforts to contain the illness, with infectious disease experts urging greater vigilance in combatting ...

New MRSA superbug emerges in Brazil

1 hour ago

An international research team led by Cesar A. Arias, M.D., Ph.D., at The University of Texas Health Science Center at Houston (UTHealth) has identified a new superbug that caused a bloodstream infection ...

User comments : 0

More news stories

Turning off depression in the brain

Scientists have traced vulnerability to depression-like behaviors in mice to out-of-balance electrical activity inside neurons of the brain's reward circuit and experimentally reversed it – but there's ...

Spate of Mideast virus infections raises concerns

A recent spate of infections from a frequently deadly Middle East virus is raising new worries about efforts to contain the illness, with infectious disease experts urging greater vigilance in combatting ...

Clean air: Fewer sources for self-cleaning

Up to now, HONO, also known as nitrous acid, was considered one of the most important sources of hydroxyl radicals (OH), which are regarded as the detergent of the atmosphere, allowing the air to clean itself. ...

Thinnest feasible nano-membrane produced

A new nano-membrane made out of the 'super material' graphene is extremely light and breathable. Not only can this open the door to a new generation of functional waterproof clothing, but also to ultra-rapid filtration. The ...

There's something ancient in the icebox

Glaciers are commonly thought to work like a belt sander. As they move over the land they scrape off everything—vegetation, soil, and even the top layer of bedrock. So scientists were greatly surprised ...