Hope Through Research

At MDA, we take a big picture perspective across the full spectrum of neuromuscular diseases to uncover scientific and medical breakthroughs that accelerate treatments and cures. The power in our research approach is that we can often apply learnings from one disease to progress in others to bring urgently-needed answers to our families.

Newborn Screening for Neuromuscular Diseases

Newborn screening refers to the standard practice of screening all babies born within U.S. hospitals for certain diseases that can be detected at birth through a blood test. The test requires a very small amount of blood that is typically obtained through a heel prick to the newborn.

Why is MDA interested in newborn screening?

At this time, most families learn of their child’s or their own neuromuscular diagnosis after symptoms have begun to appear and a series of tests has been performed over a period of time. For diseases that manifest in early childhood, such as Duchenne muscular dystrophy, spinal muscular atrophy, congenital muscular dystrophy, Pompe disease and others, this “diagnostic odyssey” typically begins after a child’s first few months and/or years of life. Newborn screening for these muscle-debilitating diseases potentially would eliminate this search for answers. However, it’s also possible that it could eliminate the period of time that families have to connect with their children before learning of their baby’s disease.

While there exists some variability in the number of disorders that are screened during the newborn screening process from state to state, at this time, most of the neuromuscular diseases covered by MDA are not screened for at birth (except in small research studies). But, better diagnostic tools are becoming available, and higher degrees of reliability are being achieved in testing. In addition, the latest research indicates that in many instances better treatments and outcomes are obtained for people in whom pediatric-onset diseases are detected early. 

If the diagnostic process can be simplified and expedited by implementing newborn screening, it’s important to ask whether newborn screening should be done routinely. 

What is MDA doing to facilitate discussions about newborn screening efforts for neuromuscular diseases?

MDA is working with policymakers to investigate the potential for expanding the newborn screening panel to include pediatric-onset neuromuscular diseases. In September 2012, MDA hosted the 2012 MDA Muscle Disease Symposium on Newborn Screening for Duchenne Muscular Dystrophy in Washington, D.C. 

To assess the availability and reliability of such testing, the Association has turned to clinicians and researchers. For an assessment of whether such testing is appropriate, MDA is seeking guidance from you — our community of families living with neuromuscular disease.

We would appreciate your thoughtful responses to the questions included in our brief Newborn Screening Survey; please click on the survey link.

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