MDA For Strength Independence & Life

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 is a public health program in the United States that aims to identify newborns with certain serious and life-threatening genetic diseases that can be treated, and for which earlier treatment may contribute to better outcomes.

In order to conduct the screening, a small blood sample is taken from the baby right after birth. This sample typically is obtained with a heel stick (a prick to the baby’s heel) and is then tested for a number of disorders.

To learn more about newborn screening, read a Q&A with newborn screening expert Dr. Rodney Howell, who also serves as President of MDA’s Board of Directors.

Why is newborn screening important?

Currently, most parents learn their child has a neuromuscular disease after symptoms have already begun to appear. Following the onset of symptoms a number of different tests may be performed, usually over a period of time, as doctors work to determine a diagnosis. This process often is referred to as the “diagnostic odyssey” and, as the term implies, can be incredibly time-consuming and emotionally draining for families during a child’s first few months and/or years of life.

Because newborn screening identifies disorders early on, before symptoms appear, it eliminates the diagnostic odyssey in connection with the disorders it covers.

Importantly, newborn screening ensures that every child begins receiving the right treatment and is connected with expert clinical care as soon as possible to drive the best possible health outcomes. Such testing can also provide families with a genetic diagnosis — information that often is required to determine whether their child is eligible to participate in promising clinical trials.

What neuromuscular diseases are currently included in newborn screening?

Currently, Pompe disease is the only neuromuscular condition that is included on the national list of diseases recommended for screening (the Recommended Uniform Screening Panel, or RUSP). However, although it’s included on the RUSP, screening for this disease has not been implemented in every state. Read A Good Beginning: Why newborn screening is important for every baby to learn more about why some states currently screen for Pompe and others do not. Be sure to visit a current list of conditions tested for in your state’s newborn screening panel.

What is MDA doing to promote and support newborn screening efforts?

Currently, MDA and other key stakeholders are collaborating on efforts to get both SMA and DMD added to the recommended uniform screening panel (RUSP). Newly approved treatments for both of these disorders are the first treatment options that impact the underlying causes of these diseases, and studies have indicated that such treatments may be most effective when administered early in the disease process.

MDA is working to support newborn screening for neuromuscular diseases by continuing to lead the charge in funding research, engaging in public policy and advocacy efforts, and collaborating with stakeholders in the neuromuscular disease community. In addition, MDA’s nationwide network of Care Centers exists to provide care to infants from day one as they are identified through the screening process, and serve as sites for continued clinical trial development and research.

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