Worried about an early stage of ALS

RonyR

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Hi Everyone!

I have a small question.

Since august I experienced some stiff muscles on my back (left-right) just behind my arms.

Later on, end of august my leg felt weak and I started getting a some fasciculations in that calf and knee.. I few weeks later I have fasciculations everywhere.. really everywhere, even in my face, trunk, etc…. 24/7

A few weeks later I notices misses weakness and atrophy in my upper arms (not clinical weakness dixit my neuro)

I also started to have a swallowing issues (did a test (some RX Video) and there they have seen a that there is a musscle with hypertonie of the cricopharynheus musscle causing the problem.. because I had all the other symptoms I was referred back to the neuro.

I went to a neuro and there an EMG of the 4 limbs including the tongue was done. This came back clear.

Also MRI (complete spine and brain) - MRI was also done to look out for hypertensity of the CST - also clean and bloodwork came back fine with very low CK levels.

Finally and after 8 weels after the start my symptoms a spinal tap was done to do a neurofillament test.. Also this came back fine (see attachment)

Still I’m having all the previous symptoms and especially my arm feels weak and heavy, also the swallowing issue is still there and it feels like i feel weakness in my jaw muscles and neck

My question.. Do you Guys think that after all these tests ALS can be ruled out?

Would the spinal tap, neurofillaments already be increased after 6-8 weeks after symptoms or das this to early?

Thanks already! I’m a little worried because all that symptoms are still presen..

I’m worried that i’m still developing ALS, and that the stage I’m in is sl early that it can’t be picked up by tests :-(
 

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Nikki J

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You are reporting symptoms all over in a short period which would be an aggressive onset which certainly should have showed

neurofilament rises before onset which is why it is being used in the ATLAS trial for sod1 carriers. It also goes higher in aggressive onset so my comment above applies
 

RonyR

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So with this tests you think it can be ruled out?

So strange in two months.. looks like every week new symptoms appear .. mostly in my upper arms (trunkside) and the neck/jaw..
I’m so scared..

Dr. Told me the spinal tap with the filament was the ultimate test :-(
 

Nikki J

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Neurofilament indicates neurodegeneration. Your results were not just normal they were low normal

you need to work with your doctor but you also need to believe them
 

affected

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I couldn't agree more - you need to believe your doctor and work with them.
ALS really doesn't come on rapidly the way you describe, and not be detected.
If what you describe was ALS your EMG would have shown issues everywhere because there is so much nerve death in each area before you really start getting symptoms.
There is something wrong, but it's just not ALS and so you focusing on that isn't helping your doctor find what it actually is.
Please stop coming here and work with your doctor.
 

RonyR

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Thank you both for your time and your replies. I really don't want to disturb or botter somebody. It's just me being so scared.
It was such a strange puzzle coming together for me. :-(.

The muscle atrophy (shrinking in both upper arms), the swallow issue which is getting worse and worse, and last but not least the widespread fasciculations everywhere.. but really everywhere... Recently and suddenly my voice is getting hoarse and I am not able to speak as loud as before. At the end of the day my voice is almost gone. :-(.

All these things are so scary for me... and I really have it difficult leave the ALS path, as one of my friends from Highschool suffered a lot from this terrible dissease...

I'm so affraid that Dr.'s were missing something and that my puncture was done to early in the process (after approx. 6/8 weeks after my very first and very subtile symptoms and that due to that my NFL levels were still low, as the process didn't started yet). Also my EMG was done extremely early... About 4 weeks after my first symptoms... Since the puncture and the EMG, things are gradually getting worse...

I know on the forum here is a lot of ALS knowledge, that the reason why I dare to ask your guys.

Everything I mentioned in this post is in a timespan of 3,5 month timespan... I read everywhere that ALS is difficult to diagnose and that it takes approx. 10-12 month to have diagnosis.. That's why I'm concerned that it's to early for me to have already a diagnosis, despite I did every test possible. :-(.

Is it possible that ALS show up with widespread fasiculations, swallow problems, upper arm weakness/atrophy without being visible in my tests? (EMG was done of the Limbs, the tongue and chin - but not from the trapezius, were the weakness is :-( ).

Was is to early for the puncture. Maybe NFL was not yet increased so much because my symptoms are still not "clinical weakness"?

Would the atrophy be visible in bloodwork, like for example CK? This was also extremely low for me?

Thanks already for all the effort you are putting in reading and replying on my questions.
 

Nikki J

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I already told you neurofilament rises before onset. It is being used in the prevention trial for sod1 ALS for that reason. and yours was very low not just normal.

the reason ALS takes a long time to diagnose is because it takes a long time for most people to get to the emg and neuromuscular physician stage. It is rare that people who get that far remain undiagnosed. Occasionally they will either have upper motor neuron onset which is clearly recognized by doctors on exam or an emg that is abnormal / suspicious but not yet fully diagnostic. you report neither of these.
 

RonyR

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Thanks Nikki, my EMG was clean, but unfortunately not trapezius or neck musscles were not checked. :-(
My Neurological exam was also fine. I pointed the neuro to my weak upper arms, but got the answer that it was no clinical weakness.

After the EMG a few weeks later, the puncture was done because I was scared.
 

affected

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You need to ask all this of your doctor - sit in a chair in front of someone and say all this out loud.
It is so easy to write all those hundreds of words anonymously here.
Doctors actually know which muscles to check - ALS does not just show up in one single muscle and oh no, they missed that one.

You get into this state because you don't understand the disease, not because you have it and smart people missed it.
Again, please, sit down and say all this out loud (even with a hoarse voice) to a doctor.
 
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