Spinal Muscular Atrophy (SMA): Diagnosis

If you have questions or are worried about anything, call the Neurogenetics Unit at 617-726-5732. You can also reach the genetic counselor at 617-726-4878.

How do doctors diagnose spinal muscular atrophy (SMA)?

All babies born in Massachusetts are screened for SMA shortly after birth as part of the newborn screen (a blood test that checks babies for different diseases after birth).

A positive newborn screen does not always mean your baby has SMA. If the newborn screen is positive for SMA, the care team will follow up with you about genetic testing options and scheduling future appointments, if needed.

Rev. 3/2018. Reviewed by the MGfC Family Advisory Council. This webpage is intended to provide health information so that you can be better informed. It is not a substitute for medical advice and should not be used to treatment of any medical conditions.