Featured Research

from universities, journals, and other organizations

Muscular Dystrophy Diagnosis Delayed Almost 2.5 Years In Boys

Date:
May 14, 2009
Source:
University of Rochester Medical Center
Summary:
A simple and inexpensive blood test for any boy with symptoms and signs of motor delays and abnormalities could speed up the process of potentially diagnosing Duchenne Muscular Dystrophy.

Boys show signs of Duchenne Muscular Dystrophy (DMD) for 2 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.

Related Articles


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 years old, but the average age when families brought the signs to the attention of a health care provider was 3 years old. The average age for children to receive the CK test or to see a neurologist was more than 4 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.


Story Source:

The above story is based on materials provided by University of Rochester Medical Center. Note: Materials may be edited for content and length.


Cite This Page:

University of Rochester Medical Center. "Muscular Dystrophy Diagnosis Delayed Almost 2.5 Years In Boys." ScienceDaily. ScienceDaily, 14 May 2009. <www.sciencedaily.com/releases/2009/05/090511122423.htm>.
University of Rochester Medical Center. (2009, May 14). Muscular Dystrophy Diagnosis Delayed Almost 2.5 Years In Boys. ScienceDaily. Retrieved October 31, 2014 from www.sciencedaily.com/releases/2009/05/090511122423.htm
University of Rochester Medical Center. "Muscular Dystrophy Diagnosis Delayed Almost 2.5 Years In Boys." ScienceDaily. www.sciencedaily.com/releases/2009/05/090511122423.htm (accessed October 31, 2014).

Share This



More Health & Medicine News

Friday, October 31, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Melafind: Spotting Melanoma Without a Biopsy

Melafind: Spotting Melanoma Without a Biopsy

Ivanhoe (Oct. 31, 2014) The MelaFind device is a pain-free way to check suspicious moles for melanoma, without the need for a biopsy. Video provided by Ivanhoe
Powered by NewsLook.com
Battling Multiple Myeloma

Battling Multiple Myeloma

Ivanhoe (Oct. 31, 2014) The answer isn’t always found in new drugs – repurposing an ‘old’ drug that could mean better multiple myeloma treatment, and hope. Video provided by Ivanhoe
Powered by NewsLook.com
Chronic Inflammation and Prostate Cancer

Chronic Inflammation and Prostate Cancer

Ivanhoe (Oct. 31, 2014) New information that is linking chronic inflammation in the prostate and prostate cancer, which may help doctors and patients prevent cancer in the future. Video provided by Ivanhoe
Powered by NewsLook.com
Sickle Cell: Stopping Kids’ Silent Strokes

Sickle Cell: Stopping Kids’ Silent Strokes

Ivanhoe (Oct. 31, 2014) Blood transfusions are proving crucial to young sickle cell patients by helping prevent strokes, even when there is no outward sign of brain injury. Video provided by Ivanhoe
Powered by NewsLook.com

Search ScienceDaily

Number of stories in archives: 140,361

Find with keyword(s):
Enter a keyword or phrase to search ScienceDaily for related topics and research stories.

Save/Print:
Share:

Breaking News:

Strange & Offbeat Stories


Health & Medicine

Mind & Brain

Living & Well

In Other News

... from NewsDaily.com

Science News

Health News

Environment News

Technology News



Save/Print:
Share:

Free Subscriptions


Get the latest science news with ScienceDaily's free email newsletters, updated daily and weekly. Or view hourly updated newsfeeds in your RSS reader:

Get Social & Mobile


Keep up to date with the latest news from ScienceDaily via social networks and mobile apps:

Have Feedback?


Tell us what you think of ScienceDaily -- we welcome both positive and negative comments. Have any problems using the site? Questions?
Mobile: iPhone Android Web
Follow: Facebook Twitter Google+
Subscribe: RSS Feeds Email Newsletters
Latest Headlines Health & Medicine Mind & Brain Space & Time Matter & Energy Computers & Math Plants & Animals Earth & Climate Fossils & Ruins