What SMA is
Spinal muscular atrophy (SMA) is caused by a missing or altered SMN1 gene. It affects the nerve cells that control muscles, leading to weakness that can affect moving, breathing and swallowing. The most severe type starts in infancy. Treatments approved since 2016, including a one-time gene therapy, have changed outcomes for many children, especially when started early, but SMA remains a serious condition.
Carrier odds by ancestry
| Ancestry | Chance of being an SMA carrier |
|---|---|
| White | about 1 in 47 |
| South Asian (Asian Indian) | about 1 in 52 |
| East Asian | about 1 in 59 |
| Ashkenazi Jewish | about 1 in 67 |
| Hispanic | about 1 in 68 |
| Black / African American | about 1 in 72 |
Unlike many conditions, SMA is common across every ancestry, which is why guidelines recommend offering the test to everyone. Check your couple in the carrier odds calculator.
If both partners are carriers
Each pregnancy has a 1 in 4 chance of SMA. A genetic counselor explains options, including IVF with embryo testing and testing during pregnancy. If a baby does have SMA, early diagnosis matters, because treatment works best when started early.
How SMA carrier testing works
The test counts how many copies of the SMN1 gene you have. Most carriers have one copy instead of two. Some carriers have two copies on the same chromosome and none on the other, which the standard test can't see, so a normal result lowers your risk a lot without making it zero. The test misses more carriers of African ancestry for this reason.
General information, not medical advice.
Sources
- Sugarman EA et al. Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy. Eur J Hum Genet (2012)
- ACOG Committee Opinion 691: Carrier screening for genetic conditions (2017)
- Gregg AR et al. Screening for autosomal recessive and X-linked conditions: ACMG practice resource. Genetics in Medicine (2021)
- Cure SMA: About spinal muscular atrophy