Re: new member needing help

[Guest guest]

Hi Ann, I suspected you were an RN. Something about the vocabulary that

tipped me off.

You have indeed had a thorough workup that has eliminated a lot of

disorders. Now that the focus is on the metabolic myopathies, don't let them

tell you it doesn't matter which one you have, or that the treatment is all

the same or that it wouldn't change the course of the disorder anyway. Not

true! It does matter which MM you have and it is definitely worth further

effort to define which enzyme is deficient and whether the defect is in

carbohydrate metabolism or lipid metabolism or neither (as in MADD). The

dietary treatments are quite different and can be crucial in outcome and

daily management. Also, don't let the University doc tell you that the

ischemic forearm exercise test would not give him any useful information.

When performed correctly (which unfortunately doesn't happen as often as it

should) this test can provide strong evidence for MADD, as well as McArdle

disease and other glycogen storage diseases. MADD produces a flat ammonia

curve during ischemic forearm exercise, while McArdle and other glycogen

storage diseases produce a flat lactate curve. In lipid storage disorders

such as CPT, the lactate and ammonia curves are normal, so this particular

test will not rule out those disorders, even if normal. Yes, it is true that

the ischemic forearm exercise test is not 100% reliable. False positives and

false negatives can occur, especially when the exercise effort is poor, but

it is very useful when performed prior to muscle biopsy, as the results

often suggest which enzymes should be assayed in muscle tissue to confirm

diagnosis.

If I were you, I would lobby for another ischemic forearm exercise test,

performed correctly this time so the results are reasonably reliable, and

then based on that result, a muscle biopsy to measure the enzymes most

likely deficient and confirm which MM you have. The tests need to be

performed in this order, ischemic forearm first, then muscle biopsy. Believe

it or not, this does not always happen. It is also crucial where the muscle

tissue is sent. There are labs and then there are labs...as many patients in

this group have learned the hard way. I got a diagnosis with my first biopsy

because our local university pathologist knew exactly where to send the

tissue, but unfortunately this doesn't happen often either. Also, some

physicians will go so far as to order a muscle biopsy, but only do histology

or electron microscopy with no enzyme essays. In MM, muscle tissue may look

normal on microscopy, but still be deficient in a crucial enzyme. Enzyme

assays are the only way to really confirm which enzyme is deficient, other

than mutation screening (which is another subject and something of a crap

shoot anyway.)

For further ammunition to persuade your doc of the value of pursuing this

course, I would recommend reading the " Metabolic Myopathies " article on

emedicine at http://www.emedicine.com/neuro/topic672.htm This is a

peer-reviewed article written by respected experts in the field, updated

2003, and is the best full-text article I've found on this subject on the

web. You may have to go through a free registration to access the article,

but it is well worth it. (This site also has a treasure trove of

expert-written articles on every subject imaginable, including a 60-page

tome on the interpretation of muscle biopsies.) Pasted below is the section

on the forearm ischemic exercise test from the " Metabolic Myopathies "

article. Presented with this information, I don't see how your doc can

persist in saying this test would not tell him anything.

Thanks for sharing more of your history. With the elevated CK, it is more

likely that someone will be willing to order a muscle biopsy. I also believe

that an RN is an advantage in navigating the health care system and getting

the help you need. You're halfway there! Don't let them stop now!

Take care,

Barbara

* Forearm ischemic exercise test: McArdle introduced this test in

1951. It is a useful screen to detect a possible enzymatic defect in the

glycogenolytic and glycolysis pathways.

* Technique

* Insert an indwelling catheter in a superficial antecubital vein.

* Draw blood for lactate and ammonia as baseline samples.

* Apply a sphygmomanometer on the arm to be tested and raise its

pressure slightly above the systolic blood pressure.

* Ask the patient to exercise repetitively for 1 minute by using an

ergometer or by making a hard fist around a rolled-up sphygmomanometer cuff.

* Assess the power generated by the patient by checking the ergometer

or noting the rise in the mercury column.

* Stop exercise, deflate the sphygmomanometer, and draw blood samples

at 1, 3, 6, and 10 minutes after 1 minute of exercise for lactate and

ammonia.

* Remarks

* Some clinicians prefer to perform the test without producing

ischemia (ie, do not apply sphygmomanometer cuff on the arm). This renders

the test less painful with less potential for cramps. Advocates of the test

have claimed positive results without producing ischemia in patients with

glycogenoses.

* In a series of patients with suspected glycogenosis, applying

pressure almost equal to the systolic pressure resulted in the test being

less painful with reliable results in all the tested children except 2 who

were younger and less cooperative.

* Findings

* In healthy subjects, lactate level should increase to 3-5 times the

basal level in the first 2 samples after exercise and then decrease

gradually to the baseline.

* Ammonia level also should increase after exercise. Ammonia level is

useful not only as a monitor of sufficient exercise, but also as a test for

adenylate deaminase deficiency.

* In glycogen storage diseases, such as McArdle disease, serum lactate

levels do not increase after exercise (ie, flat lactate curve), while in

lipid storage diseases, both lactate and ammonia levels increase in a normal

fashion.

* In MAD deficiency, ammonia does not increase (ie, flat ammonia

curve).

* On rare occasions, 2 enzyme defects are found in the same patient,

such as myophosphorylase or phosphofructokinase defect along with adenylate

deaminase defect. The latter usually is due to poor effort during exercise.

_____

From: lkgforansers

Sent: Monday, December 13, 2004 5:44 AM

To:

Subject: new member needing help

Hi Barbara thanks for your reply,

I will be more than happy to give more history and answer your

questions. I hope this doesn't end up being to long!!!!! Well first

off I think that off and on maybe in the last 5 years I had noticed

on a rare occassion some of the muscle fatigue but since it never

lasted didn't think much about it. Then after I had my kidney

removed is began to walk 3-4 miles a day and did this without

missing a day unless I was recovering a surgery. seemed like at

this point I had one medical issue after another. Then after my

last surgery it was 2 years ago in Sept was when I began having

terrible problems. That first year the muscle pain, stiffness,

muscle achiness 24/7 was unbareable. Just walking from work to the

car, I had to psych myself to do it. Doing things at work that were

once easy became very difficult. So my journey started. I have had

emg's 3 to be exact different neurologists, and all are normal. I

have had a workup that is unbelievable, been worked up for most

autoimmune diseases, negative, had MRI of the brain, lymes disease,

I found out that I had Hep C which turned out to be an old virus

that I had spontaneously cleared. I can almost think of when that

might have occured looking back at symptoms, ( I am an RN and had

some exposure and needle stick at work) but I apparently have no

active disease). I was worked up for fibrolylagia negative, most of

my blood work except the CPK's have been normal. My amonia levels

are slightly elevated and no one has yet to explain that one to me.

The first year, the muscle pain and stiffness that lasted for hours,

actually it never went away some days...just rolling over in bed at

night caused enough pain for me to wake up. This past year the

debilitating fatigue is less, my ability to do housework is better I

can push the vacuum more ( darn, I was kinda liking my other half

having to do it!!!!) I am sick of hearing the " well you are a year

older you know " Sometimes I can take one of my walks sometimes I

can't, I don't do that on a regular basisis anymore. Now here's

what I don't understand and the specialist at the University that I

finally got to see and who has never called me back, after 7 weeks

so I have written him off, was my pyruvate blood level was very very

low, yet another doc I saw drew a pyruvate kinase level and it was

low normal. The doc at the University pretty much siad to me that I

have a " mild metabolic myopathy: that I am missing one or more

enzymes at the cellular level but not enough to show up on any test,

yet are causing me problems at the energy level. He wanted me to do

the Atkins diet for awhile,( if that didn't work do high carb) take

creatine, l carnitine, and 600mg of Co Q 10. I decided to see a

nephrologist since I have a solitary kidney and wanted to see what

was REALLY ok supplement wise to take. This doc said NO to the

atkins diet to hard on the kidney, no to the creatine since I didn't

have ALS or MD, and he drew a l carnitine level which was normal and

he said that was just a waste of money since it is metabolised so

quicky in the liver, since my level was normal.

I got my primary to draw a CPK level and it initally was something

like 390 then for about 4 months I was doing pretty good and he

decided to spot check it and we both about died when it was 2000.

Seems like when it is high my symptoms are less and as the level

comes down I become very symptomatic. Someday I can't even brown

hamberger cause the repetitve motion cause severe muscle fatigue,

and now recently what use to be more intermittant is now daily, and

that is walking up a flight of stairs, I feel as tho I have just

walked up 10 flights, sometimes I feel SOB, but am not huffing and

puffing.

So that was the long version!!!! LOL the short version is he thinks

that cause of symptoms. Yet I do have days where I have a few

different symptoms. I don't remember the names of the syndroms

right now I am still learning all this, but somedays the fatigue is

so great that I can't even begin to do things and somedays the pain

and fatigue are there and I can start stuff and work thru it. I

hope that makes sense.

So there ya have a long story in a sort of short version. If there

is anything else that I can tell you that would help I would

appreciate it. I had an ishemic forearm test done but it was the

first time this doc/clinic did it and after reading about how it was

suppose to be done it was not done correctly. The doc at the U said

that he could repeat is but it wasn't worth it wouldn't tell him

anything. Of course the day he drew all my labs everything was

normal. I voiced a concern to him about the high CPK levels and my

one and only kidney and he just pretty much blew me off and said.

well if you start peeing coke cola colored urine you have a

problem...and this is an MDA doc here where I live, My husband felt

that he gave the impression since whatever it is that I have isn't

genetic, or to severe at this point that we were wasting his time.

I changed insurance this year so maybe I'll go to Mayo if things get

worse. We did catch my CPK at 400 again a couple of weeks ago and I

wasn't feeling to bad then when I really was symptomatic this new

doc that I saw drew it and it was 250....go figure. so the plan is

that the next time I am having a good period we will draw it to see

how high it is. I just had a lactic acid draw after a treadmill

stress test but don't know the results yet.

You asked about diet. Well I haven't had much of an appetite, but I

have been eating less carbohydrates then usual and I have been

feeling pretty good. I haven't done the extreme diet thing. Maybe

I should add carbs and see what happens.

I would have responded just to Barbara but I didn't know how to do

that. So I am very sorry this is so long.

Thanks and take care

Ann

ps what does wrap message text mean at the bottom of the screen

where is says send?

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[Guest guest]

--- Anne it is good to post your information on the forum. You

do not need to feel guilty. We learn so much from others. I am

learning from your posts and Barbara's respones. I am in the same

boat as you right now. i also have some kind of metabolic myopathy

and have been told it is not worth investigating. From what I am

learning it definitely is worth investigating. By the way welcome to

the forum!

Best Wishes,

DawnAnich

In , " lkgforansers " wrote:

>

>

>

>

> Hi Barbara thanks for your reply,

> I will be more than happy to give more history and answer your

> questions. I hope this doesn't end up being to long!!!!! Well

first

> off I think that off and on maybe in the last 5 years I had

noticed

> on a rare occassion some of the muscle fatigue but since it never

> lasted didn't think much about it. Then after I had my kidney

> removed is began to walk 3-4 miles a day and did this without

> missing a day unless I was recovering a surgery. seemed like at

> this point I had one medical issue after another. Then after my

> last surgery it was 2 years ago in Sept was when I began having

> terrible problems. That first year the muscle pain, stiffness,

> muscle achiness 24/7 was unbareable. Just walking from work to

the

> car, I had to psych myself to do it. Doing things at work that

were

> once easy became very difficult. So my journey started. I have

had

> emg's 3 to be exact different neurologists, and all are normal. I

> have had a workup that is unbelievable, been worked up for most

> autoimmune diseases, negative, had MRI of the brain, lymes

disease,

> I found out that I had Hep C which turned out to be an old virus

> that I had spontaneously cleared. I can almost think of when that

> might have occured looking back at symptoms, ( I am an RN and had

> some exposure and needle stick at work) but I apparently have no

> active disease). I was worked up for fibrolylagia negative, most

of

> my blood work except the CPK's have been normal. My amonia levels

> are slightly elevated and no one has yet to explain that one to

me.

> The first year, the muscle pain and stiffness that lasted for

hours,

> actually it never went away some days...just rolling over in bed

at

> night caused enough pain for me to wake up. This past year the

> debilitating fatigue is less, my ability to do housework is better

I

> can push the vacuum more ( darn, I was kinda liking my other half

> having to do it!!!!) I am sick of hearing the " well you are a

year

> older you know " Sometimes I can take one of my walks sometimes I

> can't, I don't do that on a regular basisis anymore. Now here's

> what I don't understand and the specialist at the University that

I

> finally got to see and who has never called me back, after 7 weeks

> so I have written him off, was my pyruvate blood level was very

very

> low, yet another doc I saw drew a pyruvate kinase level and it was

> low normal. The doc at the University pretty much siad to me that

I

> have a " mild metabolic myopathy: that I am missing one or more

> enzymes at the cellular level but not enough to show up on any

test,

> yet are causing me problems at the energy level. He wanted me to

do

> the Atkins diet for awhile,( if that didn't work do high carb)

take

> creatine, l carnitine, and 600mg of Co Q 10. I decided to see a

> nephrologist since I have a solitary kidney and wanted to see what

> was REALLY ok supplement wise to take. This doc said NO to the

> atkins diet to hard on the kidney, no to the creatine since I

didn't

> have ALS or MD, and he drew a l carnitine level which was normal

and

> he said that was just a waste of money since it is metabolised so

> quicky in the liver, since my level was normal.

>

> I got my primary to draw a CPK level and it initally was something

> like 390 then for about 4 months I was doing pretty good and he

> decided to spot check it and we both about died when it was 2000.

> Seems like when it is high my symptoms are less and as the level

> comes down I become very symptomatic. Someday I can't even brown

> hamberger cause the repetitve motion cause severe muscle fatigue,

> and now recently what use to be more intermittant is now daily,

and

> that is walking up a flight of stairs, I feel as tho I have just

> walked up 10 flights, sometimes I feel SOB, but am not huffing and

> puffing.

>

> So that was the long version!!!! LOL the short version is he

thinks

> that cause of symptoms. Yet I do have days where I have a few

> different symptoms. I don't remember the names of the syndroms

> right now I am still learning all this, but somedays the fatigue

is

> so great that I can't even begin to do things and somedays the

pain

> and fatigue are there and I can start stuff and work thru it. I

> hope that makes sense.

>

> So there ya have a long story in a sort of short version. If

there

> is anything else that I can tell you that would help I would

> appreciate it. I had an ishemic forearm test done but it was the

> first time this doc/clinic did it and after reading about how it

was

> suppose to be done it was not done correctly. The doc at the U

said

> that he could repeat is but it wasn't worth it wouldn't tell him

> anything. Of course the day he drew all my labs everything was

> normal. I voiced a concern to him about the high CPK levels and

my

> one and only kidney and he just pretty much blew me off and said.

> well if you start peeing coke cola colored urine you have a

> problem...and this is an MDA doc here where I live, My husband

felt

> that he gave the impression since whatever it is that I have isn't

> genetic, or to severe at this point that we were wasting his

time.

> I changed insurance this year so maybe I'll go to Mayo if things

get

> worse. We did catch my CPK at 400 again a couple of weeks ago and

I

> wasn't feeling to bad then when I really was symptomatic this new

> doc that I saw drew it and it was 250....go figure. so the plan

is

> that the next time I am having a good period we will draw it to

see

> how high it is. I just had a lactic acid draw after a treadmill

> stress test but don't know the results yet.

>

> You asked about diet. Well I haven't had much of an appetite, but

I

> have been eating less carbohydrates then usual and I have been

> feeling pretty good. I haven't done the extreme diet thing.

Maybe

> I should add carbs and see what happens.

>

> I would have responded just to Barbara but I didn't know how to do

> that. So I am very sorry this is so long.

>

> Thanks and take care

> Ann

>

> ps what does wrap message text mean at the bottom of the screen

> where is says send?