In October 2023, Governor Hochul of New York State signed bill S6814/A5042, making Duchenne newborn screening mandatory for all babies born in the state. Approximately 210,000 babies are born in New York State every year, which means that we expect this program to identify at least 21 babies with Duchenne annually once implemented.
In October 2023, Governor Hochul of New York State signed bill S6814/A5042, making Duchenne newborn screening mandatory for all ...
Read MoreIn New York, Duchenne newborn screening starts with a test called CK-MM (a form of creatine kinase, sometimes referred to as a CPK or creatine phosphokinase) on the sample collected from the baby. High levels of CK-MM can be a sign of muscle damage, which could be caused by Duchenne or a related neuromuscular condition.
If the initial CK-MM is elevated, a second heel prick sample when the baby is a week or so older may be requested to do a repeat CK-MM level. This is because CK-MM can be elevated as a result of labor and delivery. If labor and delivery caused the elevation, the CK-MM level will drop back into the normal range within a few days of birth. If CK-MM level remains elevated, further testing is needed.
A referral in New York means that the second CK-MM newborn screen was elevated. Consequently, the baby will be referred to a newborn screening follow-up specialist for more testing. This testing will include DNA-based genetic testing for the Duchenne gene.
The Duchenne journey is complex, but PPMD is here for you. If you have just received a positive screening for Duchenne or Becker, resources are available.
Every single person living with Duchenne deserves the best care possible. PPMD’s Certified Duchenne Care Center Program helps to ensure that centers comply with the standards of care and services that have been established in the Duchenne Care Guidelines. All Certified Duchenne Care Centers have met the requirements for, and agree to provide, optimal standardized care and services.
If your baby has been diagnosed with Duchenne or Becker muscular dystrophy, or identified as a carrier, we encourage you to join The Duchenne Registry. By participating in the Registry through our easy-to-use smartphone app, you can help advance research and treatments. Participation in the Registry also connects you with opportunities to learn about and enroll in active clinical trials and research studies.
