NEW STUDY! Parasym Plus™ for Multiple Sclerosis › Forums › PrettyIll.com Discussion › EDS/MS/Chiari › Newbie looking for advice about symptoms and appointments › Reply To: Newbie looking for advice about symptoms and appointments
Continuing the insanely long post:
…… Before I forget, I have had tons of bloodwork which all came back supposedly “normal.” I had a brain MRI which I was told was normal and I got copies of it but don’t know what I am looking at. My doctor originally suspected Mitochondrial Myopathy and Muscular Dystrophy.
I found the mention of Muscular Dystrophy rather curious because some of the genes involved in collagen production (e.g.COL6A1) have been found to be defective in some of the rarer forms of Muscular Dystrophy (particularly “Bethlem” and “Ullrich’s”). I would ask what kind of test was conducted to rule these out, were they looking for something raised in your blood (e.g. Creatine Kinase – which, incidentally, isn’t always raised) or did they actually carry out genetic testing.