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Magnate
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Join Date: May 2007
Posts: 2,049
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Magnate
Join Date: May 2007
Posts: 2,049
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Now that I have a bit more info....I want to share a few disease categories that every one should at least glance over.
Hereditary Distal Myopathies
Adult onset myopathies
Adult onset muscular dystrophies
Myotonic Dystrophy Type 1 and Type 2 (PROMM)
There are some ethnic pockets of higher incidence.
Maybe one of the folks that has been thru genetic testing would like to share their experience and definition of terms, such as dominant, recessive, sex linked, penetrance, anticipation. I get too wordy.
That said, I do want to reiterate....we are no where near finding a gene locus for me....I simply switched categories from idiopathic to hereditary, clarified it is not inflammatory...it is still the same disease, still nameless, but not faceless. This entity has faces now, and it may, possibly have lineages and names....then again it may not.
This is the third biopsy I have had: epidermal nerve fiber density shows small fiber from normal to severe loss depending on location...(the muscle biopsy done on me was very close to an area that showed normal innervation)
A muscle biopsy which shows mild myopathy, thought to be of neurogenic origin, with abnormal angular fibers...again mild.
A labial biopsy which should chronic changes without inflammation, read by Mayo as consistent with Sjogren's. 'Consistent' with is their way of saying...we can't call it that, but there is something wrong and we find this kind of thing in Sjogren's.
Again, I had NO lymphocytic infiltration, which some folks on here do have on their labial biopsies. That is important to note...as lymphocytes indicate inflammation. My gland is simply not getting innervated properly and works quite well at times. This also applies to my eyes...and it is possible that I am sleeping with my eyes slightly open due to the neurogenic myopathy condition I have....Sleeping with eyes open is called nocturnal lagopathalmos. My eyes do dry out during the night something awful....during the day they are usually OK unless something is blowing on them. I can wear contact lenses at times.
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