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Hi, I was wondering if anyone could shed a little light on 's

microscopic results from her muscle biopsy. The results are " moderate type 1

hypotrophy, metabolic myopathy " . Has anyone else gotten this back? We're

still waiting for electron microscopy and biochemical analysis. Is this the

dreaded " nonspecific mito " that gives little information about how to treat

it? UGH!

Heidi, 's Mom

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  • 8 months later...

One thing about EMG testing I wanted to mention. Our, (Laurie and

myself's) EMG were normal for years until we had it done before and then

again right after exercise. The doc has us going up and down flights of

stairs. The EMG was very abnormal after exercise. That showed that it

was at least metobolic, because they tested our arms, (that we didn't

walk on) and they tested adnormal too. EMG's are very hard to read

also, so what one doc may pick up on, others might not.

javaruck wrote:

>

>Wow, your situation seems to mirror some of what I've gone through as

>well. When I started this process, several doctors were convinced it

>was MS only to be surprised by normal MRI's. Myasthenia Gravis was

>on the list for a short time until the sensory neuropathy really

>started to kick in.

>

>I can't say for certain what all tests were run on my muscle tissue

>but it appears that it was pretty exhaustive. I would be surprised

>if they did not do some of the tests you referenced. If my lab bill

>is any indication they should have tested for all kinds of stuff for

>almost $5K. Thank goodness for having a good health insurance plan.

>

>I do know that my lactate and pyruvate levels under both resting and

>full stress testing remained normal. That was one of the conundrums

>my doctor had when my CK and ammonia went high but everything else

>remained normal. My body must really be a mess since my lab results

>seem to be so unusual. The doctors were really amazed that the EMG

>testing came up clean when the muscle biopsy showed the levels of

>denervation that I had.

>

>It's pretty amazing to see how much doctors still do not know.

>

>Bob

>

>

>

>

>>>I'm back to where I started from in terms of having some sort of

>>>neurological disorder. What surprised my doctors was the fact

>>>

>>>

>that

>

>

>>>the EMG and NCV studies failed to pick up signs of significant

>>>nerve damage when the biopsy indicated some pretty major problems.

>>>

>>>I get to go in for more testing in order to pinpoint the problem

>>>but now things are pointing towards an autoimmune disease. As a

>>>result, I'll be searching out a support group focusing on this

>>>problem.

>>>

>>>

>>We have a lot of autoimmune disease in our family, they cover a LOT

>>of different issues. I fully believe my mitochondrial disease is

>>

>>

>due

>

>

>>to either a genetic autoimmune condition or environmental

>>

>>

>exposure.

>

>

>>Several of my doctors along the years thought I had myasthenia

>>gravis, which is an autoimmune disease, and I even responded to the

>>medication for it (but not completely). But that was disproven

>>

>>

>with

>

>

>>a single-fiber EMG test.

>>

>>From your email, it doesn't sound like they did ox phos (oxidative

>>phosphorylation) or complex activity measurement - that is VERY

>>necessary for those of us who don't have ragged red fibers or

>>mitochondrial abnormalities. My " generic " mitochondria appearance

>>tests were normal, but the activities of the different complexes

>>

>>

>were

>

>

>>way off, which is not done with all muscle biopsies.

>>

>>I also had a normal EMG and many normal brain MRIs. Have you had

>>your lactate and pyruvate levels tested? My understanding from my

>>mito doc is that having either high lactate, or a high (over 20)

>>lactate/pyruvate ratio in the blood is a strong indicator for

>>mitochondrial disease.

>>

>>Take care,

>>RH

>>

>>

>

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