Drop foot and quad fasciculations

[dav76]

Bad News
I saw the neurologist yesterday. She did not order any additional exams (EMG, MEP, ...) but she took note of my previous two EMG, my MRI scans, and then she observed my gait, checked my reflexes and sensory responses allover my body.
This allowed her to spot UMN damage (majorated brisk reflexes on my left side, and spastic (rigid) movement of my left leg while walking.
As a result, she said that at this stage ALS is what best explains my symptoms. She's having me start Riluzole and will see me again in three months.

In the meantime, I should start light physical therapy with no strength or resistance training. Apparently, I can keep cycling but at a moderate exertion level (it should not be exhausting). After I asked for it, she also took samples for a genetic test and neurofilament dosage.

I am not sure if I this makes me a PALS yet, but in either case, it was a cold shower that I am still processing.
I am hoping that I can be in the few percent that can live longer with this fucking disease. My uncle was diagnosed at 65 and died at 67. I am 48, so I am hoping I can live at least a bit longer based on the fact that my symptoms do not seem to have progressed significantly since December.

 

[Nikki J]

Sorry to hear. I don’t know exactly what it means either but apparently she has some doubt if she didn’t say this is ALS flat out. My clinic prescribes riluzole when they have high suspicion and I know of cases where the answer turned out differently.

If this is fals it doesn’t mean you will have the same course. My family varies widely in presentation and progression.

The activity advice sounds good. My clinic says for exercise if it takes more than an hour to feel like you could do it all over again it was too much

 

[dav76]

Thanks Nikki!

I know of cases where the answer turned out differently.

Do you have examples of what it turned out to be? What surprised me yesterday is that my previous neurologist recommended an MEV, but for her, it was enough to note my increased reflexes on the left side and my gait pattern to conclude there is UMN involvement.

 

[Nikki J]

The one that springs to mind was a myopathy but I know there have been more

 

[dav76]

hi @Nikki J , all,
I received my light-chain neurofilament blood test results and my value on March 25 was 92.60 pg/ml.
Do you have any idea what this indicates?

thanks

 

[Nikki J]

It depends on the lab and your age It is a non specific test anyway. A high value indicates some neurodegeneration but doesn’t diagnose you with a particular disease. It is more a data point.

For any of the testing methods used in the US that would be a high value There are two main methods used here. I don’t think there is another where that would be a normal number but not 100% since you are in France. I thought European labs used the same methods

 

[dav76]

It is definitely a high value, My doctor said it confirms the findings of EMG and neurological exam. I was wondering if it gives any indication regarding progression speed.

 

[Nikki J]

The general thought is the higher values correlate with faster progression. Do you know what the normal range is for your test? Here one method it would be around 2 another about 20. 92 would be pretty high with either but worse with the first. I know people in the hundreds with method 2

 

[dav76]

do you know the names of the methods you are referring to?
The method they used is Immunoenzymochimiluminescence, and the reference values they list are 1 to 10. But there's an artifact near the 1 in the scan they sent me, so it could be 0.1 to 10 or 0.01-to 10.

 

[Nikki J]

One is called simoa also roche but that is just the company that provides the assay for one company. That is the really low one so I don’t think they are using that.

Are they giving you a formal diagnosis now? Prescribing riluzole? Ask about a trial

 

[dav76]

I have been on Riluzole since my "probable diagnosis at the end of March". My next appointment will be in June.

 

[Nikki J]

I just found this slide from a presentation. ( glad you are on riluzole)

 

[dav76]

Thanks!
Can you share the source of the presentation? and do you know if any of those is Immunoenzymochimiluminescence?

 

[Nikki J]

I honestly don’t remember. I am pretty sure it was a one time webinar not a conference. Best guess is something from the Neals consortium Eta actually looking again I think it was a table in a journal article

Don’t know . Ask your doctor. By name would think lumipulse but that is just a guess