You Are a Carrier for
Spinal Muscular Atrophy

What Is Spinal Muscular Atrophy?

Children with SMA have weaker muscles because their motor nerve cells don't work properly.

What Does SMA Affect?

• Muscle strength and movement
• Motor development like sitting, crawling, and walking
• Breathing and swallowing in severe cases

Severity varies. Some types are more serious than others.

What Does "Carrier" Mean?

Everyone has two copies of the SMN1 gene. You have one working copy and one changed copy.

Your working copy protects you from having SMA.

How Common Are Carriers?

Being a carrier is common. Most carriers don't know until they have genetic screening.

You did nothing to cause this. It's a normal genetic variation.

How Is SMA Passed On?

SMA is autosomal recessive—both parents must be carriers for a child to have SMA.

How Inheritance Works

What Are the Chances?

Partner testing helps us understand your specific risk.

How Did We Find This?

We tested your blood or saliva for changes in the SMN1 gene.

This test is routinely offered during pregnancy or before pregnancy.

What Happens Next?

Partner testing tells us if your baby is at risk for SMA.

Testing is simple—blood or saliva—and results take 1–2 weeks.

If Your Partner Is Also a Carrier

We will discuss options to learn about your baby's health:

You will have choices. We will guide you through every step.

Prenatal Testing Options

• CVS (chorionic villus sampling) — 10–13 weeks
• Amniocentesis — after 15 weeks
• PGT (preimplantation testing) — before embryo transfer in IVF

We will review risks, benefits, and timing if needed.

What Can I Do Now?

• Arrange partner testing
• Ask questions—your team is here for you
• Consider genetic counseling for detailed discussion

We will support you through every decision.

Remember

Questions are always welcome.