Status
Not open for further replies.

wendya432

Active member
Joined
Jul 10, 2013
Messages
74
Reason
Learn about ALS
Country
US
State
mi
City
Davison
I had an appointment with my neurologist today. I went in because I've had more progression and I wanted him to see. I made sure to tell him everything that was going on and how it was affecting my life. He seemed to really listen this time. Told me that he's been thinking about me and trying to figure out what I have. He seemed concerned, and I have more weakness than last time he checked. Especially in my legs.

So, he had me get labs done to check my muscle enzymes. And we talked again about getting a muscle biopsy. He had been putting it off because he thought it would be a "low yield" result. But now he is saying that maybe we should. I gather he wants my labs back before he decides. But, he also told me to think about it and try to decide if I want to do it or not. He said if we do it, and it doesn't tell us anything than we are in the same spot and I had to go through it for nothing. But there is a chance it could tell us something. So I'm not sure what to think. Has anyone else had one done? Does it show anything with PLS? He mentioned that they don't usually show anything if the EMG is fine and mine was. I'm pretty much willing to do whatever tests will help him figure this out. But anxious about doing something expensive and invasive if it isn't going to give us answers.

Also he said that he's thinking about sending me to the Mayo clinic or the Cleveland clinic. He said they have more experience with rare things, and he thinks they will be able to figure out what is going on and give me a diagnosis. He said he just can't figure out what it is that I have. But we both agree that getting a diagnosis is important.

So I see him again in 2 months and we go over my labs, decide on the muscle biopsy, and maybe do a referral to probably cleveland as it is closer to me.

In a way I'm glad he's doing more to figure this out. But, I also still feel kind of like he's not even sure what is going on. I'm really surprised he hasn't mentioned PLS, despite the fact that I have all UMN symptoms, and everything else we've tested has been fine.

So that's it in a nutshell.
 

olly

Extremely helpful member
Joined
Jan 10, 2008
Messages
2,732
Reason
PALS
Diagnosis
11/2007
Country
uk
State
uk
City
uk
Hi wendy.
The only thing I can think of that a muscle biopsy could come up with given you have some umn signs is mitochondrial disease.
This can have spasticity as a symptom ...in fact theres a spastic form.
The biopsy may show ragged red fibres if mitochondrial disease is present.

Its worth a shot,i ofton wondered if I should have had one done as I suspect mitochondrial dysfunction is on my mothers side.
Having said that mitochondrial dysfunction is linked to MND's as well as many many other deseases.

Hope it goes well and please let us know how you get on.
 

Schmutz

Active member
Joined
Apr 6, 2013
Messages
72
Reason
DX UMND/PLS
Diagnosis
06/2012
Country
US
State
NY
City
Rochester
Hi Wendy -

It took 12 years and as many neurologists to diagnose me. I saw experts in Miami and New York. I never had a muscle biopsy and I'm not sure one would have helped with my diagnosis.

PLS is very rare and, I've decided also very peculiar. I've had so many symptoms, and some have come and gone. For instance, for awhile I experienced upper body chorea which led one doctor to think I have Huntington's. Thank goodness that is not so. The PLS diagnosis came after seeing the same neurologist for 6 years. After so many of my tests came back "normal" and it was still obvious something was wrong - that made the diagnosis possible.

I know this isn't comforting to you- but my real point is we are all different. There is no one progression with this disease. I was thinking about going to the Cleveland Clinic at one point and I think that's probably a good idea. '

Hang in there and good luck!

Anne
 

Diane H

Senior member
Joined
Sep 28, 2013
Messages
637
Reason
PALS
Diagnosis
11/1985
Country
US
State
IN
City
Fort Wayne
The neurologist who gave me my muscle biopsy report said `There is nothing here that makes us have to say it is ALS." I guessed that translated as "Inconclusive." I wouldn't go through a muscle biopsy again. It hurt a lot because they can't numb the spot. Injecting lidocaine would damage the tissue they are biopsying. You could ask for pain medicine but it would take enough to zonk you out not to feel the digging into muscle. I don't know how common it is but I had an area of nerve damage at the incision that zinged painfully when the area was touched even by clothing moving across it. I kept it bandaged long after the incision healed to prevent that. It got better over several months but it could still zing years later if I bumped it.

The technique may have changed over the years but it is not a test that can say definitely if it is ALS anyway. Unless your neurologist has a strong suspicion that you have something other than ALS -- and that something can be proven by a muscle biopsy -- I would not bother.
 

Clearwater AL

Very helpful member
Joined
Aug 28, 2013
Messages
1,849
Reason
PALS
Diagnosis
12/2016
Country
US
State
NC
City
Central NC
I made a post that didn't make a lot of sense (wasn't the first time)... so I edited the whole dang thing out. :)
We're with ya girl.
 

FSHolbrook

Distinguished member
Joined
Oct 14, 2013
Messages
216
Reason
PALS
Diagnosis
09/2013
Country
US
State
ND
City
Fargo
Hi Wendy,
I think that muscle biopsy is fairly standard in the diagnosis for ALS. When I checked the Mayo Clinic's procedure for testing for ALS this was one of the tests. I am guessing that it is used if the MRIs blood test and EMG do not show definitive results.

Rick
 

Diane H

Senior member
Joined
Sep 28, 2013
Messages
637
Reason
PALS
Diagnosis
11/1985
Country
US
State
IN
City
Fort Wayne
Unfortunately there is no definitive test for ALS other than a brain biopsy which can only be done after death. I don't think any of us are that eager to get a solid diagnosis! The best diagnostic test remains EMG, A conduction block detected on an EMG means that it is NOT ALS but something else and treatable even if not curable. Other tests are the same -- intended to rule out other possible causes. If nothing else can be diagnosed you will go from ”Possible ALS" to "Probable ALS". The final diagnosis of "ALS" is then based on physical exams and progression. For someone with slow progression that can take years. Frustrating yes, but actually good news.
 

FSHolbrook

Distinguished member
Joined
Oct 14, 2013
Messages
216
Reason
PALS
Diagnosis
09/2013
Country
US
State
ND
City
Fargo
You are quit correct Diane, That is why I am planning on tissue donation because there is a total shortage of brain and spinal tissue for study. I have my neurologist looking into that so I am hoping that she has so suscess in finding a place to donate tissue.

Rick
 

Clearwater AL

Very helpful member
Joined
Aug 28, 2013
Messages
1,849
Reason
PALS
Diagnosis
12/2016
Country
US
State
NC
City
Central NC
Diane H. the first sentence in your post "(Unfortunately there is no definitive test for ALS other than a brain biopsy which can only be done after death."), in some circles, can start a firestorm of conversation. How often have your read even right here, "Clean EMG... no ALS." I've heard pretty much you all have posted will often apply to PLS but a "dirty EMG" (as so often described) is the 'clincher' for ALS. Kinda makes it "that definitive test." I know what you're saying but that first sentence makes me wonder if it's the driver of some of the persistent DIHALS'ers we've got on that Forum. And, there are a couple of members here that were told they had ALS after their first EMG. That's pretty definitive. Has anyone been diagnosed with ALS and have had 'clean EMGs?" Did you mean PLS instead of ALS? Just wondering.
 

olly

Extremely helpful member
Joined
Jan 10, 2008
Messages
2,732
Reason
PALS
Diagnosis
11/2007
Country
uk
State
uk
City
uk
Al, a EMG is the only test to confirm ALS other than a clinical examination.
For PLS theres is only a clinical examination that can confirm it(for now)...there is a mri spectroscopy but it can not diagnose PLS,it can only be used and confirm UMN lesions in advanced patients or if a large lesion that will show up is suspected.

A muscle biopsy is used to identify/diagnose myopathies .
The only thing that comes to mind with a myopathy that would include muscle spasticity is mitochondrial disease.
 

Dusty7

Senior member
Joined
Aug 3, 2013
Messages
521
Reason
PALS
Diagnosis
08/2013
Country
US
State
FL
City
Orlando
I think what Diane H. means is that there is no test that can positively rule in ALS. There are many test that can rule out ALS--a clean EMG, a ridiculously high CPK level (over 10 times normal), a positive result for Lyme, etc. That is what is so exciting about the Split Hand Index. We have 3 different groups of researchers (at least) who are saying it is a test that positively identifies a disease as ALS. A negative on the Split Hand Index does not rule out ALS, but a positive on the Split Hand Index says it's definitely ALS (at least, that's what the research teams are saying).
 

vickim

Very helpful member
Joined
Sep 20, 2012
Messages
2,255
Reason
Friend was DX
Diagnosis
03/2012
Country
US
State
MO
City
aaaa
I had a muscle bio spy and it confirmed mitochondrial myopathy. The procedure was not fun and 2 years after I still get stinging and sensitivity at the site, even a pulling sensation.

I think all these diseases are closely related. A lot of the symptoms are the same and I think that it why it is so hard to get a diagnosis. Took 5 years to get mine. Just hang in there, they will get it figured out.
 

sjaza_granny

Member
Joined
Apr 8, 2013
Messages
21
Reason
PALS
Diagnosis
11/2009
Country
US
State
Ohio
City
Upper Sandusky
Wendy, When I got my diagnoses from my nero, he sent to Ohio State University to see Dr. John Kissell, and he confirmed my diagnoses. He was very nice.
 

AKmom

Senior member
Joined
Jun 2, 2010
Messages
606
Reason
DX UMND/PLS
Diagnosis
11/2009
Country
US
State
Alaska
City
Wasilla
My GP doc sent me for a biopsy after being ticked off at some neuro docs who didn't do the job well enough for what my doc was looking for. They knocked me out for the proceedure and there was not much pain afterward. The results were read at our local hospital, then were sent to Washington State to be re evaluated and confirmed. The biopsy showed slight atrophy and a long description of things I do not remember off hand, but in the notes they gave a list of possible causes. My doc and I went through the list and my history. Every diagnosis listed had already been ruled out with the exception of one that was listed. That was the only diagnosis that really didn't have a test to confirm it. The diagnosis was Upper motor neuron disease. Also known as Primary Lateral Sclerosis.
 

Bad Balance

Senior member
Joined
Dec 10, 2010
Messages
814
Reason
PALS
Diagnosis
12/2010
Country
US
State
GA
City
Atlanta
I finally ran out of patience and insisted on a referral to an ALS clinic.
These folks may do some conformational testing, but they see so many cases, they can tell just by examining you. Take all your records with you
 
Status
Not open for further replies.
Top