Early diagnosis and treatment occurs most effectively with universal newborn screening.  SMA was added to the Recommend Uniform Screening Panel (RUSP) in July 2018. Since then, Cure SMA and its advocates have successfully encouraged the adoption of newborn SMA screening in all 50 states and Washington, DC. 

Although we have achieved universal newborn screening for SMA in the U.S., we encourage providers to remain watchful for the early signs to optimize outcomes. Approximately 3% to 5% of individuals with SMA will not be identified by newborn screening due to SMN1 point mutations. Thus, clinical evaluation and consideration of the SMA diagnosis remains important. 

Newborn Screening for SMA is a test done shortly after birth. A small blood sample is taken from the baby’s heel and sent to a lab.  This blood spot is then analyzed to look for the genes that cause SMA.  If the initial screening test suggests SMA, the screening site will notify the infant’s healthcare provider. Parents are then contacted and referred to a SMA specialty clinic for additional testing to confirm the diagnosis.  

If your child’s newborn screening test suggests they may have SMA, the first appointment with the neurologist should be scheduled to occur within 2-3 days. Don’t delay. Take action right away. 

See the video on this page to learn more about what to expect at the SMA Specialty Clinic. 

SMA Care Coordination: Connecting Patient, Family, Providers & Community

At the first visit you and your family may be introduced to many different health care providers. These providers will examine your child and complete additional testing. They will also share guidance and information on SMA. Remember, your child and family are the core of your health care team and should be involved in all levels of decision-making in the hospital and the community. Ask questions so you are comfortable with the next steps.  

For more information about recent publications on SMA Diagnosis and Update in Best Practices, you can view our summary report. 

We know that this process can be overwhelming. You may be confused, scared, frustrated, or uncertain—and your emotions may change daily or even hourly. But you are not alone. Cure SMA is here for you and can help. Contact us for information, guidance, and support. 

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