muscle biopsy results

[Guest guest]

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

_________________________________________________________________

MSN Toolbar provides one-click access to Hotmail from any Web page – FREE

download! http://toolbar.msn.com/go/onm00200413ave/direct/01/

[Guest guest]

Bob,

Dr. Simpson told me that there are only two hospitals in the US that do the

total muscle biopsy test. That test the odidative chain and Complex

defieciencies that are so hard to find. One is Cleveland Clinic and the other

one I do not remember but I know that it wasn't UCLA.

The neuro at OSU, Dr. Sahenk, told me that they did fresh biopsies, meaning that

they test it at OSU, but on the lab report it said that the sample was frozen

before the test. Hence you might call it a fresh/FROZEN biopsy.

javaruck bob.rucker@...> 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

Medical advice, information, opinions, data and statements contained herein are

not necessarily those of the list moderators. The author of this e mail is

entirely responsible for its content. List members are reminded of their

responsibility to evaluate the content of the postings and consult with their

physicians regarding changes in their own treatment.

Personal attacks are not permitted on the list and anyone who sends one is

automatically moderated or removed depending on the severity of the attack.

[Guest guest]

FYI, the full cost of the fresh muscle biopsy was around $12K, the

vast majority of which was testing...

BTW, are you on anything for high ammonia, I'm struggling with that

now...

Take care,

RH

> >

> > > 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