Re: Possibily a New Mito Woman?

[Guest guest]

http://www.mitosoc.org/PhotoPuzzlerArchives.htmhttp://www.mitosoc.org/PhotoPuzz\

lerArchives.htm> is just one link I found but there are many that point to mito

if you do a google search on subsarcolemmal aggregates.

Alice

[Guest guest]

Hi Ann Marie,

Since I just went through an evaluation and was told that in the mito

population, only about 30-40% of patients actually have a positive

muscle biopsy, then I would think that if her clinical picture

reflects a mito diagnosis then she could have it regardless of what

the biopsy says.

There are doctors in the field who insist that if you don't have a

muscle biopsy that is positive then you don't have mito. But Dr

Cohen who is considered one of the most knowledgeable specialists in

the field, reports he has at least 9 patients who do not have

positive muscle biopsies but he is sure they have mito although he

cannot prove it.

Maybe it is time for your friend to get a second opinion?

Adam

> Hi

>

> I happen to meet someone recently who had a muscle biopsy a long

time ago and her doctors told her that she doesn't have a Mito

disease. I was able to read her biopsy report and the following

sentence kind of has me wondering....

>

Thanks

> Ann-Marie

>

>

>

>

[Guest guest]

Thank You Alice!!

Ann-Marie

[Guest guest]

Hi Adam :-)

I agree with you, that just because a muscle biopsy comes back negative, doesn't

completely rule out a Mitochondrial Disease. I think my friend needs to have

more testing done on her biopsy if possible, and yes, a second opinion.

The Doctor I see at my local MDA Clinic also believes that just because you have

a muscle biopsy that isn't positive doesn't mean that you don't have Mito. She

told me she has a few patients who had their biopsies come back negative, but

she is 100% sure they have Mito, just can't prove it on paper thru the biopsy.

And I know of a few doctors who specialise in Mito that believe that if the

biopsy is Negative than you don't have Mito. But I do wonder if they say that

due to the fact that if it was ever proven that diagnosing Mito through a biopsy

isn't as cut and dry as they say that they would lose their research and grant

money. Just a thought.

Yes, she has all the clinical signs and symptoms. I think she has a Mito

disease.

Thanks Adam

Hugs,

Ann-Marie

You wrote:

There are doctors in the field who insist that if you don't have a

muscle biopsy that is positive then you don't have mito. But Dr

Cohen who is considered one of the most knowledgeable specialists in

the field, reports he has at least 9 patients who do not have

positive muscle biopsies but he is sure they have mito although he

cannot prove it.

[Guest guest]

A basic google search shows that this muscle biopsy is often found

in perixomal disorders ..particularly the Zellweger syndrome which

spectrum encompasses ALD and Refsums among others..

The perixomal defect can affect the liver,proximal tubules (kidney)

adrenal cortex, heart skeletal muscle and smooth muscle cells and

neutrophils.

All the perixomal illness appear to affect the mitochondria but are

not mitochondrial diseases,

It may be worth her having an evaluation for other disorders after

all for example ALD/AMN is now known to be more prevelant in the

general population..I had to have full genetic testing for that as

part of the Mito. investigations. The overlap in symptoms and

findings in these illness can be difficult to distinguish.

Gillian

> Hi

>

> I happen to meet someone recently who had a muscle biopsy a long

time ago and her doctors told her that she doesn't have a Mito

disease. I was able to read her biopsy report and the following

sentence kind of has me wondering....

>

> NOTE: THIS IS FROM HER ELECTRON MICROSCOPY REPORT.

>

> " In several areas there are subsarcolemmal aggregates of

mitochondria. These mitochondria are larger in size. "

>

> " Mitochondria of a large size are also seen between the

sarcomeres. "

>

> " Granules consistent with glycogen are moderately increased in

the vicinity of the subsarcolemmal mitochondrial aggregates. "

>

> Now my question: Does any know what subsarcolemmal aggregates are?

>

> The reason I am asking is because this poor woman is still

suffering and getting so much worse than she was years ago. I feel

really bad for her and told her I would ask you guys what you

thought and if you had any suggestions for her. I already explained

to her that we are NOT doctors and most of the information we give

each other is from our own experiences. But she said she would

appreciate any kind of information about her Report and any

suggestions. I will hold my thoughts until after every one replies.

>

> Thanks

> Ann-Marie

>

>

>

>

[Guest guest]

Anne Marie..do a search on AMN/ALd that is the one that jumps out at

most Docs these days...AMN in the ADULT population is only just

coming to the fore and the overlap of symptoms/signs with

Mito...well it muddles all Docs..that is why I and 2 other

generations of my family were genetested for it...apparently lots of

these biopsies can mean anything !!!!Refsums is also found in Adults

due to it not being recognised !!!

The mito. abnormalities are now being found in one of the Myotonic

Dystrophies as well that they can gene test for....

The search I did yesterday rather gob-smacked me to be honest as to

what these biopsies really do mean...

Gillian

>

> A basic google search shows that this muscle biopsy is often found

> in perixomal disorders ..particularly the Zellweger syndrome which

> spectrum encompasses ALD and Refsums among others..

> The perixomal defect can affect the liver,proximal tubules

(kidney)

> adrenal cortex, heart skeletal muscle and smooth muscle cells and

> neutrophils.

>

>