Thank you once again for your information...helpful!
I am a long time patient with "mito" ... not a doctor! Pompe Disease is a glycogen storage disease so it is metabolic. There is information on the web about it and I imagine that you have done some searching. Also try searching (Pompe Disease + mitochondria).
To me ... given that you seem to have more than two body systems involved, it sounds like a Mitochondrial Disease ... but, certainly, it does sound like it is at the cellular level ,,, and both Mito and Pompe fit this descriptor.
Thank you so much for your reply. They will test on May 8 for an adult form of Pompe's disease. Your thoughts?
This is something produced by UVA which may be helpful in letting you know about types of "Mito" (Mitochondrial Disease)
MD = Muscular Dystrophy OR Mitochondrial Disease. Mitochondrial Disease comes under the umbrella of services of the Muscular Dystrophy Association. Have they told you which "rare type of MD" they say you have?
Thanks....muscle biopsy was not normal...they are looking for a rare type of MD.
EMGs are often normal in mitochondrial disorders. Fresh tissue muscle biopsies should show results ... and beyond that Medomics and Transgenomics are doing Mitochondrial DNA investigations and nuclear DNA testing is coming on stream. Check out