Have you had blood work to determine if you are a carrier or if you have the disease?

It definitely is extremely confusing, I researched the death out of SMA type 4 since my daughter was diagnosed, she’s 11 months and diagnosed at 3 weeks. From what I research( of course I’m not a doctor..so still do more research on your own) type 4 has 4 to 8 copies more of SMN 2 genes and the onset can start anywhere from 20-35 years of age. It is the rarest of the genetic disease making it difficult to notice if the state doesn’t make SMA part of newborn screening. I’m a carrier and her father is a carrier and that’s how she ended up with the genetic disorder. Me being a carrier does not effect me at all, only a diagnoses of SMA would cause symptoms related to SMA. Once again I’m not a doctor, just a mother that want her daughter to get the best treatment that she can receive.

From what I understand carriers do not have any symptoms. The later the onset the less severe it will be. The number of backup SMN2 genes doesn’t predict severity alone. Are you taking any treatments?
I was diagnosed at age 20 but had symptoms since I can remember. It was always difficult to keep up with peers as far as walking, running, climbing stairs.
Each case even within the same type and same number of SMN2 genes has variations.
Genetic testing should help you with your diagnosis. Good luck. I know how frustrating it could be to not have answers.

I have adult onset and I walked pretty well until 50. Than at 52 I broke my femur. That is when it started to progress. I now can walk only little spurts in the house and I constantly have lower back pain. My lower back pushes me forward. I have 2 beautiful girls. Who have blessed me with 6 grandbabies. 2 boys 4 girls. None have the gene.

Just did the SMA panel which looks at the SMN1 and SMN2 genes. That will determine if both copies of the SMN1 gene are deleted and how many SMN2 genes I have. That will determine if I have SMA or I'm just a carrier. So complicated. I was a researcher at MIT but I'm not really familiar with genetics. I'm researching it on my own and I'm beginning to grasp the complexities of genetics (somewhat). Either way, I have to have "that discussion" with my kids because six of my grandchildren are in their twenties. So my kids will have to be tested and if any one of them is a carrier their kids will have to be tested and potentially their partners, if they decide to have children. Like I said, it's complicated.