Neuromuscular disease

Kristin Stephenson, Sr. VP, Chief Policy & Community Engagement Officer at the Muscular Dystrophy Association details the advances taking place in newborn screening for neuromuscular disease

Spinal muscular atrophy (SMA) is the leading genetic cause of death in infants in the United States (U.S.) and early identification and intervention are key to treating the disorder. The national newborn screening public health program now provides an opportunity to identify babies with this lethal disorder at birth – opening up treatment and care options from day one.

In July, SMA was added to the Recommended Uniform Screening Panel (RUSP) for newborns, which means that now it is officially recommended that every baby born in each state is tested for SMA immediately after birth. This is a landmark decision for the SMA community, recognising both the importance of early diagnosis and intervention in newborns and the new therapeutic options to treat the disease. Because each state ultimately determines which disorders are included on their respective state newborn screening panels, having a disorder added to the nationally recommended list is a critical step toward making sure all babies have the opportunity to be identified. And while states drive their individual testing programmes, there are essential federal supports that help ensure implementation, testing and feasibility are considered.

What is newborn screening?

Babies born in the U.S. are currently screened for more than 30 conditions including two neuromuscular diseases – Pompe and SMA. Early detection of these diseases is vital as it allows for earlier treatment, which can improve health outcomes. Importantly, identifying babies with disorders such as SMA early in life allows for careful monitoring from day one, providing the opportunity to put in place plans and gather insights for long-term care, treatment and follow-up.

In the U.S., more than four million babies are screened annually for serious diseases through the newborn screening program – diseases that would result in significant disability or death if left untreated. Newborn screening, as a public health programme, has proven successful in saving countless lives and has been hailed by the Centers for Disease Control and Prevention (CDC) as one of the top 10 public health successes of the past decade.

Newborn screening and the states

Because newborn screening is a public health programme that falls under the authority of the individual states, the final decision on whether to test for a specific disease is up to each state. Each state must add a disease to its own screening panel. This implementation phase can be complicated and expensive and can take a significant amount of time.

Federal funding is needed to determine which disorders are ready for nationwide screening and to help implement screening in the states. Thus, federal funding for agencies that support newborn screening is essential. Funds from federal agencies such as the Health Resources and Services Administration (HRSA) and CDC provide counselling and other services to newborns and children.

For the 2018 fiscal year, the Newborn Screening Quality Assurance Program at the CDC is funded at $8.4 million and the Heritable Disorders program at HRSA is funded at $13.88 million (1). This funding supports newborn screening initiatives by providing training in new laboratory techniques and educational materials for healthcare professionals, families and patient advocacy and support groups and additional funding will be essential to ensure that the newborn screening program has sufficient resources to fulfil its intent.

Muscular Dystrophy Association (MDA) and newborn screening

MDA is an umbrella organisation committed to transforming the lives of individuals affected by muscular dystrophy, ALS and more than 40 other neuromuscular diseases through innovations in science and innovations in care. To that end, MDA is committed to promoting early screening, diagnosis and treatment. Once babies with these conditions are identified via state newborn screening programs, MDA Care Centers at more than 150 top institutions across the U.S. can play a key role in confirmatory diagnoses, treatment and follow-up. In many cases, the follow-up care may be lifelong and, in some situations, (for example, late-onset Pompe disease) the clinical symptoms may not manifest until later in life.

We are also committed to optimising clinical care and accelerating the development of therapy options while contributing to the understanding of the natural history of neuromuscular disease. When babies are diagnosed early in life, it allows the opportunity to learn more about how the disorder manifests and to insights into how early intervention affects the disease course. To help collect and compile this type of data in a rigorous and uniform manner, MDA has established the provider-entered neuroMuscular ObserVational Research (MOVR) Data Hub, to collect data at MDA Care Centers across the country. MOVR will collect longitudinal insights that are being applied to increase understanding of disorders, including SMA and that support regulatory science and drug development. The same Care Center network and MOVR data hub also support Duchenne muscular dystrophy (DMD) and related neuromuscular diseases, which we anticipate will also be part of the national newborn screening program soon.

As scientific progress continues to accelerate, MDA will remain committed to newborn screening and to advocating for additional neuromuscular diseases to be added to the RUSP. To learn more about MDA advocacy, visit



Kristin Stephenson

Sr. VP, Chief Policy & Community Engagement Officer

Muscular Dystrophy Association

Tel: +1 800 572 1717


Please enter your comment!
Please enter your name here