Navigation Links
Muscular dystrophy diagnosis delayed almost 2.5 years in boys
Date:5/11/2009

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.

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.


'/>"/>

Contact: Heather Hare
heather_hare@urmc.rochester.edu
585-273-2840
University of Rochester Medical Center
Source:Eurekalert

Related biology news :

1. UVA reports surprising findings related to myotonic muscular dystrophy
2. Cold Spring Harbor Laboratory scientists devise potential approach to treat spinal muscular atrophy
3. Researchers discover molecular basis of a form of muscular dystrophy
4. Laminin builds the neuromuscular synapse
5. Study may explain exercise-induced fatigue in muscular dystrophies
6. Scientist clears hurdles for muscular dystrophy therapy
7. Potential therapy for congenital muscular dystrophy
8. Cell anchors required to prevent muscular dystrophy
9. While focusing on heart disease, researchers discover new tactic against fatal muscular dystrophy
10. March of Dimes awards $250,000 prize to scientists unraveling the causes of muscular dystrophy
11. 60 second test could help early diagnosis of common brain diseases
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:6/15/2016)... New York , June 15, 2016 /PRNewswire/ ... a new market report titled "Gesture Recognition Market by ... and Forecast, 2016 - 2024". According to the report, ... USD 11.60 billion in 2015 and is estimated ... reach USD 48.56 billion by 2024.  ...
(Date:6/2/2016)... , June 2, 2016 The ... has awarded the 44 million US Dollar project, for ... Embossed Vehicle Plates including Personalization, Enrolment, and IT Infrastructure ... leader in the production and implementation of Identity Management Solutions. ... January, however Decatur was selected for ...
(Date:5/20/2016)... , May 20, 2016  VoiceIt is excited ... with VoicePass. By working together, VoiceIt ...  Because VoiceIt and VoicePass take slightly different approaches ... increases both security and usability. ... about this new partnership. "This marketing ...
Breaking Biology News(10 mins):
(Date:6/23/2016)... ... June 23, 2016 , ... ... regulatory and technical consulting, provides a free webinar on Performing Quality ... 13, 2016 at 12pm CT at no charge. , Incomplete investigations are still ...
(Date:6/23/2016)... 2016  Amgen (NASDAQ: AMGN ) today ... life sciences incubator to accelerate the development of ... space at QB3@953 was created to help high-potential life ... many early stage organizations - access to laboratory infrastructure. ... launched two "Amgen Golden Ticket" awards, providing each winner ...
(Date:6/22/2016)... SAN DIEGO , June 22, 2016 /PRNewswire/ ... partnership that will allow them to produce up ... (HiPSC) from one lot within one week. These ... their time laboriously preparing cells and spend more ... made possible through a proprietary, high-volume manufacturing process ...
(Date:6/22/2016)... 2016  According to Kalorama Information, the dominant ... market include significant efforts in automation as well ... and affordable sequencers, say the healthcare market research ... including sample prep materials.  The healthcare market research ... for Next Generation Sequencing (NGS) , highlights major ...
Breaking Biology Technology: