SMA Carrier

Are you a Carrier of the Gene that causes SMA?

1 in 40 people, most unknowingly, carry the gene that causes SMA and you certainly could be one of them. Carriers of the gene show no symptoms but stand a 50% chance of passing the deffective gene on to their children.  If both the mother and father are carries, each of their children has a 25% chance of having SMA.

 

 

Family History:

While the average risk of being a carrier is 1-40, if you have someone in your family who has SMA you are at a greater risk of being a carrier.

If you have a brother or sister with SMA, you have a 2 in 3 chance of being a carrier
If you have a niece or nephew with SMA, you have a 1 in 2 chance of being a carrier
If you have an aunt or uncle with SMA, you have a 1 in 3 chance of being a carrier
If you have a cousin with SMA, you have a 1 in 4 chance of being a carrier.

 

If you have someone in your family who knows they are a carrier you also have a greater risk of being a carrier.

If you have a parent who is a carrier you have a 1 in 2 chance of being a carrier
If you have a brother or sister who is a carrier, you have a 1 in 2 chance of being a carrier
If you have a niece or nephew who is a carrier, you have 1 in 4 chance of being a carrier
If you have an aunt or uncle who is a carrier, you have a 1 in 4 chance of being a carrier
If you have a first cousin who is a carrier, you have a 1 in 8 chance of being a carrier

How to get tested.

Testing for SMA carrier status can be done with a simple saliva or blood test.  Testing for SMA is not currently standard and you must request it from your doctor.  Carrier testing is most important for those in consideration of having a child.  Two carriers have a 25% chance of having a child with SMA.  Knowledge is power and knowing you are an SMA carrier can save lives.

If you know you are a carrier there are precautionary options.  If you know you are a carrier your child could be tested before or after birth (not currently a standard newborn test).  Early detection and intervention lends itself to sustaining life.

 

These companies perform carrier tests:

Athena Diagnostics-

Blood Test

 

Counsyl -

Saliva Test

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Clair Altman Hein Foundation

is dedicated to SMA carrier screening