How are all those tests going?

We had a visit from Gwen's genetic/metabolic specialist at 3pm. He and the radiologist have looked at the MRI and did not see anything abnormal, so that is good news. The neurologist hasn't had a chance to inspect it yet, so the final word is not in.

So, what do we know about what's causing the hypotonia?
SMA was ruled out previously. Prader-Willi was ruled out by recent blood work. Myotonic dystrophy is currently being checked for with the latest blood work. All other metabolic disorder checks performed so far have come back negative.

The muscle biopsy that was taken today will result in a few different tests. First, there are several myopathies that are checked for. If those are negative, the mitochondria are inspected under an electron microscope. (there were no elevated lactate levels in her blood, so the chances of a mitochondrion problem is very slight)
Then a further look at the mitochondria will be done by an outside lab, and can be a couple of months before we get that back.

There are some very rare conditions that can be checked for should all other test be exhausted without a diagnosis, so this odyssey may continue for a while yet.

One course of action will be to start taking Carnitine, a vitamin. This has shown to increase muscle tone, but exactly how it works is not known. This is something we didn't want to start on until after the muscle biopsy was done, so the regimen can begin in a couple of days when the surgical recovery is complete.