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amysgarden

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CALS
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Oak Harbor
My husband's neurologist wants to do a muscle biopsy on his thigh. He is scheduled for bloodwork and a thigh MRI on Monday.

We have a "probable" diagnosis of ALS. The doctor even said he is just trying to go to great lengths to make sure it is not something else. The extensive EMG was very consistent with ALS.

Now he found a positive aldolase and a positive myoglobin which he says are usually not elevated in ALS but usually in myositis or dermamyositis.

My husband agreed (thinking it was going to be a punch biopsy) but when I was looking onine, the thigh biopsies were open incisions. Now my husband is refusing. He is not at all scared of the procedure but of the damage it might do- he is already having a lot of trouble walking- how bad would it be with a muscle deep wound to his thigh?

So what were your thigh biopsies like? Could we refuse it and still get a diagnosis?
Amy
 
>Now he found a positive aldolase and a positive myoglobin which he says are usually not elevated in ALS but usually in myositis or dermamyositis.

ALS specialist or Oak Harbor neuro?



Max - Thursday, April 23, 2015 12:54:49 PM

ALS sucks, but It Is What It Is ... and someone else has it worse so I'll try not to complain today!
onset 9/2010, diagnosed with ALS by Stanley Appel 8/29/2013


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I hope there are a few folk here who can answer. I do not think it is a standard procedure with ALS unless there is room for doubt in the diagnosis. I think you are seeing a neuromuscular doctor? I would have a frank risk/ benefit discussion.
 
yes it is with the ALS doctor at Virginia Mason. Everything points to ALS except these two mild to moderately elevated blood markers which show muscle damage- more common in myositis (but usually in much higher levels). I am wondering if it is because he had been overdoing it two days prior with farm work and lifting (I have already lectured him about that). The EMG did not reflect typical myositis but ALS. There was no elevation in CRP (inflammation markers) x 2 times.

I really think the doc is really just trying to rule out anything and everything but I really don't want to chase fantasies. But then I don't want to accept ALS if is is something else.

At what point can you just not doing any more testing? Especially invasive texting.

Amy
 
BTW his ANA was also negative (autoimmune marker often positive with myositis.
 
>But then I don't want to accept ALS if is is something else.

Ditto that!
 
Amy,
Given a purely neuropathic EMG + mild CK elevation + myoglobinuria (dark urine or just the lab?) as I believe you described, metabolic myopathies seem as likely as inflammatory ones like PM to be ruleouts. I would certainly not undertake a bx with the only stated objective to r/o myositis. There is blood work specific to some of these other myopathies but the level of clinical suspicion for each relates to personal/family hx that obviously I don't have.

As you know, the differentials would also drive collection/analysis of the muscle bx specimens, e.g. suspicion of a metabolic myo would prompt flash freezing in liquid N for a reference lab, so I would want to be sure the outputs are as definitive as they can be, for sure, given that it is an open procedure w/ multiple specimens as you note. I don't have any exp w/ the recovery period; hopefully others will chime in.

Whether other (e.g. mass spec) assays are preferred first depends on the differentials. Even at the MRI stage, proton MRS, for example, can be helpful in suggesting specific metabolic myopathies, sometimes with pre/post dietary intervention imaging.

I don't want to complicate things, but the UW group publishes more in the areas we are now talking about. These often-treatable r/o's are rarer than ALS and no one at VM lays claim to that expertise, nor would I expect them to.
 
In my journey to diagnosis, I was sent to a rhuematologist. Extensive testing revealed that I have a rhuematological condition called Mixed Connective Tissue Disease (MCTD). MCTD can have symptoms of other connective tissue diseases, including polymyositis.

It turns out that I do really have MCTD in addition to MND. As neurological issues persisted and worsened, I saw many neurologists and eventually had a muscle biopsy on my deltoid (upper arm). The biopsy was in my "good" arm, and I was surprised how much it limited my ability to do things for a few days. I recovered just fine, but with a bit of a scar. My biopsy was completely normal.

Because of the MCTD leading to an obvious concern for polymyositis, I believe the biopsy was justified for me. The negative biopsy was one of the factors (along with many other tests) that led to my eventual diagnosis of MND.

I would be hesitant to have a muscle biopsy without some compelling reason to do so.

Steve
 
They felt Steve had dermatomyositis at one point because he had some classic skin issues for that disease. They ran anti jo antibodies which are specific for dermatomyositis. There is a family of tests based on bloodwork I would ask for before I did the biopsy. We ruled out everything via bloddwork and imaging and urine tests so the muscle biopsy was not needed. Of course, each case is different.
 
They are going to do the bloodwork and MRI on Monday. When I emailed him with more questions, the neuro has stated that unless those are positive for myositis type (they are running a myositis panel and a NT5C1A antibody) then they will not do the muscle biopsy.

His myoglobin was 240 and the aldolase 9.9 ~ I kinda wondering if this is just reflecting muscle destruction from a man still trying to do farm chores he shouldn't be doing? Anyway- he is on strict resting orders (no lifting or long walks) from me until after the bloodwork and MRI to make sure we don't have any more muscle breakdown.

Amy
 
I think this is a wise course. Rule out everything you can but if markers still point to myositis then biopsy. Good luck!
 
Oh, so this was just a blood draw for myo; they didn't dip a urine, sounds like.
Pretty generic and yes could reflect effort vs. ability.

That would bring up the question of any features you are seeing that seem more myopathic or NMJ than neuropathic, e.g. waxing/waning sx, esp. 0-60-0 episodic w/ effort or eating, continued/progressive vision changes, stuff like that.

If not, haven't heard anything compelling as yet toward an indication for the bx.
 
I had a open muscle biopsy performed and according to neuro #1, it was just to rule out muscular issues. The results showed denervation and atrophy but no indication of why at that time. the EMG was what pushed the ALS specialist towards his diagnosis.
 
Sorry, I forgot to include mine was on my bicep. The incision was a little over 2 inches long. They removed a 2 inch by 1 inch tissue sample. It had no effect on the use of that arm.
 
I had 3 muscle biopsies on the lower leg and behind my knee. Wide awake for all of them and asked to see what they took out. All showed denervation and atrophy amongst other things. I had healing time after, not long, but no real issues with loss of mobility from the biopsies. Also had a spinal tap. I have a diagnosis of SMA (spinal muscular atrophy) even though I do not have the genetic marker for it.
 
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