Other Newborn ScreeningNewborn ScreeningRUSP
Spinal Muscular Atrophy
SMA
SMA is a motor neuron disease caused by SMN1 deletion or mutation, leading to progressive weakness and respiratory compromise in untreated severe types. Disease-modifying therapies including gene replacement have transformed prognosis when delivered presymptomatically. Newborn screening supports treatment before motor neuron loss advances.
- Prevalence
- Approximately 1 in 11,000
- Inheritance
- Autosomal recessive
- Screened at Birth
- Yes
- On RUSP
- Yes (Recommended Uniform Screening Panel)
About This Data
This disorder is part of the Cureledger rare disease data corpus. We are building privacy-preserving natural history datasets and advocacy tools for rare disease communities. Data is maintained by clinical advisors and the patient community.