Guest guest Posted September 10, 2004 Report Share Posted September 10, 2004 Lynn I don't mind in the least answering your questions. I do not have a diagnosis. I am not sure if he believes I have Mito or not. He is willing to look anyway. I asked him about a muscle biopsey (which I haven't had yet) and he didn't seem to think they would tell us much. He said if I had a mito disease the best way to find it was through the tests. If they didn't show anything, he didn't know if it would be useful to have a muscle biopsey because there is no real treatment he could offer anyway. The tests he ordered are: Plasma lactate Plasma pyruvate Plasma Carnitine Plasma amino acids-quantitative Urine organic acids-quantitative Acylcarnitine profile Mitochondrial DNA analysis CPK Creatine Guanidina Acetate Joanne Quote Link to comment Share on other sites More sharing options...
Guest guest Posted September 10, 2004 Report Share Posted September 10, 2004 Joanne, Thanks for the info. That's interesting what Dr. Enns said about the tests being the best way to diagnose mito. My neuro at Columbia told me the the muscle biopsy was the " gold standard " for diagnosing mito. Since by biopsy was megative he said I didn't have mito and I probably have a metabolic myopathy. I asked him if there were any other tests that we could run to try to pinpoint the disease and he said " no ,we've exhausted all of our efforts " . His only effort was the biopsy. I guess all docs have different ways of obtaining a definitive diagnosis. Good luck with the tests. I hope you find an answer. Please let me know how they turn out. Thanks for sharing. Lynn > Lynn I don't mind in the least answering your questions. I do not > have a diagnosis. I am not sure if he believes I have Mito or not. > He is willing to look anyway. I asked him about a muscle biopsey > (which I haven't had yet) and he didn't seem to think they would > tell us much. He said if I had a mito disease the best way to find > it was through the tests. If they didn't show anything, he didn't > know if it would be useful to have a muscle biopsey because there is > no real treatment he could offer anyway. The tests he ordered are: > Plasma lactate > Plasma pyruvate > Plasma Carnitine > Plasma amino acids-quantitative > Urine organic acids-quantitative > Acylcarnitine profile > Mitochondrial DNA analysis > CPK > Creatine > Guanidina Acetate > Joanne Quote Link to comment Share on other sites More sharing options...
Guest guest Posted September 10, 2004 Report Share Posted September 10, 2004 Joanne, Thanks for the info. That's interesting what Dr. Enns said about the tests being the best way to diagnose mito. My neuro at Columbia told me the the muscle biopsy was the " gold standard " for diagnosing mito. Since by biopsy was megative he said I didn't have mito and I probably have a metabolic myopathy. I asked him if there were any other tests that we could run to try to pinpoint the disease and he said " no ,we've exhausted all of our efforts " . His only effort was the biopsy. I guess all docs have different ways of obtaining a definitive diagnosis. Good luck with the tests. I hope you find an answer. Please let me know how they turn out. Thanks for sharing. Lynn > Lynn I don't mind in the least answering your questions. I do not > have a diagnosis. I am not sure if he believes I have Mito or not. > He is willing to look anyway. I asked him about a muscle biopsey > (which I haven't had yet) and he didn't seem to think they would > tell us much. He said if I had a mito disease the best way to find > it was through the tests. If they didn't show anything, he didn't > know if it would be useful to have a muscle biopsey because there is > no real treatment he could offer anyway. The tests he ordered are: > Plasma lactate > Plasma pyruvate > Plasma Carnitine > Plasma amino acids-quantitative > Urine organic acids-quantitative > Acylcarnitine profile > Mitochondrial DNA analysis > CPK > Creatine > Guanidina Acetate > Joanne Quote Link to comment Share on other sites More sharing options...
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