Guest guest Posted September 24, 2004 Report Share Posted September 24, 2004 I am asking this to the mito groups... My sister was diagnosed with M S before we were aware of mito. She has ptosis and some other symptoms similar to my mito. Her neurologist told her that mito could be definitively diagnosed with a blood test....Can that be so? Dr. Shoffner diagnosed my mito with a muscle biopsy. I know he took some blood and urine also. Have I missed some new information? Thanks, in FL Quote Link to comment Share on other sites More sharing options...
Guest guest Posted September 28, 2004 Report Share Posted September 28, 2004 Im pretty new to the mito thing, but its my understanding that there are a bunch of blood tests that can " point " to mito (my son has several abnormal blood tests that all 'indicate' mito) but that hte only way to confirm the diagnosis is a muscle biopsy... I dont know this for sure though... unless hes referring to DNA testing, and they know exactly what mutation they are looking for, as i think there are a few DNA tests that can find specific point mutations, but it would be like a needle in a haystack if they didnt have something to point them to a very specific mutation (like another family member with a confirmed mito disorder and mutation on a specific point...) This is my understanding... anyone else? Keely > I am asking this to the mito groups... > My sister was diagnosed with M S before we were aware of mito. She has ptosis and some other symptoms similar to my mito. Her neurologist told her that mito could be definitively diagnosed with a blood test....Can that be so? Dr. Shoffner diagnosed my mito with a muscle biopsy. I know he took some blood and urine also. > Have I missed some new information? > Thanks, in FL Quote Link to comment Share on other sites More sharing options...
Guest guest Posted September 28, 2004 Report Share Posted September 28, 2004 We have been told of a blood test that could detect mito. They look at the DNA to see. Caden will have it done in a week or 2. I hope, if it's mito we're dealing with, that it shows up on the blood test because the next step is a muscle biopsy. Vicki~mom to Caden (almost 12 mo.) possible mito ---------- Original Message ---------------------------------- Reply-To: Mito Date: Fri, 24 Sep 2004 13:43:54 -0400 >---------- Original Message ---------------------------------- >I am asking this to the mito groups... >My sister was diagnosed with M S before we were aware of mito. She has ptosis and some other symptoms similar to my mito. Her neurologist told her that mito could be definitively diagnosed with a blood test....Can that be so? Dr. Shoffner diagnosed my mito with a muscle biopsy. I know he took some blood and urine also. >Have I missed some new information? >Thanks, in FL > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted September 28, 2004 Report Share Posted September 28, 2004 , I think that they can detect some defects if they know what they are looking for and where. My son's biopsy showed problems in the mitochondria and two years later they did a blood test which showed his problem is in the DNA. His letters are not in the right order and he has extra letters in the place they looked. They did tell us he could have other DNA problems but they only concentrate on the suspect area. His DNA does not tell his mitochondria what to do properly. There is no cure for it no matter where the problem is. I think this is similar to the tests they have out now to tell if you are prone to certain types of cancers. Twana > We have been told of a blood test that could detect mito. Quote Link to comment Share on other sites More sharing options...
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