Thread: Genetic Testing
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Old 12-21-2007, 11:59 AM
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cyclelops cyclelops is offline
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Join Date: May 2007
Posts: 2,049
15 yr Member
cyclelops cyclelops is offline
Magnate
cyclelops's Avatar
 
Join Date: May 2007
Posts: 2,049
15 yr Member
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Heh, heh...I knew I would end up here...again.

I just got back my muscle biopsy reports...I have some mild myopathy...not enough to account for weakness, but then again, I haven't complained of weakness there....I have been grousing about my feet, hands, neck and back.

Where was this mild but surprising myopathy??

The bicep...the old Popeye muscle. (Shoulda eaten that spinach)

They did the bicep muscle because it is the farthest away from any neurologically damaged tissue...and they found mild, but surprising, myopathy in the bicep. It is neurologically induced. Meaning, the muscle is deteriorating due to a lack of innervation, likely small fiber, highly likely hereditary, likely autosomal dominant.

They are proceeding with more study on the sample to rule out Anterior Horn Diseases, which cause the same look in the muscle cell...but are fairly confident it is a hereditary neuropathy producing a myopathy....and not just that, but it also produces changes in any organ that is not getting proper innervation, such as skin, muscle, endocrine and or exocrine glands.

Mitochondria are fine....cute little buggers....so probably that rules out any mitochondrial DNA stuff from mom...of course there are other genes from mom but....I have a hunch where this came from...but can't say right now, 'ya hey dare---you betcha-- I have a hunch'. But I could be surprised, in time.

There is no sign of inflammation. I sometimes wonder if my body is capable of getting inflammed!!! I know now, that my kids will never have to go thru the 'it's in your head' thing.

I am tossed into that black hole which will eventually spew out a lot of new constellations of diseases. Maybe in this lifetime...maybe not...but I have contributed to the advancement of science, albeit nebulous at this time. I wish I could hang my hat on a star and say, bingo, this is this specific disease, but, we are beyond idiopathic, to hereditary, we are beyond small fiber neuropathy, which it IS, but on to documenting more and more sequlae to small fiber neuropathy, and perhaps a new name for an old disease or a new disease category within a huge galaxy of what we call PN.

Beam me up Scottie!
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