Diagnoses and Labels

This is because I had been starting to forget the meaning of diffferent diagnoses I have. This is frightening and, while I am getting the knowledge back, it is coming slow.

congenital myasthenic syndrome, agrin type (cms-8)

I have a missense mutation on my AGRN gene. This causes my muscles to get weaker with use, a condition known as congenital myasthenic syndrome. This is similar to myasthenia gravis with the main difference being myasthenia gravis is autoimmune and what I have is hereditary.

One of the main ways this can show in me is an increased weakness. So my eyeballs get weak. Then usually my neck. Then my elbows, knees, or both, Then my breathing muscles. And it’s all downhill from there.

Although it is not always considered a developmental disability I consider CMS-8 very much to be one.

I take mestinon (a.k.a. pyridostigmine) to deal with this condition. Tricky medication because too much looks very much like too little.

In case you are wondering, the genetic testing was done by the Mayo Clinic, so this was not some random quack telling me what I wanted to hear. It is not even what I wanted to hear. Myasthenia gravis is far more treatable.