Desperate for opinions for Bulbar Onset

[BulbarScared007]

Thank you to all who helps with these questions and offers your insights! I am 50 year old male and roughly 20 months ago, lost functionality in my orbicularis oris muscle where I could not suck on a straw, blow up a balloon or pucker my lips. This is making eating and drinking very difficult. I also talk with a bit of a lisp because my lips don't work. A few days ago, I noticed my bottom lip is starting to atrophy and that is scary! I also can't move my nostrils as much as I used to.

Why I think my symptoms fit ALS:
I get cramping, stiff muscles and fasciculations. The fasciculations mainly happen in one leg and thigh but do also have some twitches in the same side arm and the other leg. Can kinda see the fasciculations during the day, but the fasciculations really come on strong when I am laying down to sleep. At night, the foot of the same leg gets really sweaty even if the foot is cold. Weird having a sweaty but cold foot....but it is like it can't regulate the temperature or something.

Worst part about this is that my EMG showed both "denervation" and "reinnervation" findings in multiple muscle groups. All other tests have been normal like blood tests, MRI's, Lyme disease, GBS and Pet Scans, etc, etc.

Why my symptoms question a diagnosis of ALS:
Main reason right now is because this weakness has been isolated in the lips. I think the orbicularis oris muscles because I can smile just fine, just not pucker. And according to Dr. Google, it is VERY unusual to have bulbar onset ALS to remain isolated in the lips and for so long. Also, there is some confusion to me on whether the orbicularis oris muscles even belong to the bulbar region....but then again, I am just guessing it is the orbicularis oris muscules due to not being able to pucker.

I do not have any weakness anywhere else. Yes, I certainly cannot lift as much weight as I could a couple years ago but nothing concerning. And I can still go running though my legs do feel heavy. Not sure if it is mental or this disease.

As of now, no issues with tongue or swallowing issues. Well, swallowing can be challenging because my lips can't always keep food in so I tend to swallow quicker w/out chewing which raises chance of choking. I do find myself clearing my throat lately and my voice can get raspy but then goes back to normal. I have pretty bad GERD so could be related.

I find myself shaking a lot, especially in my arms and torso. Very evident in the morning with tremors in arms and torso and lasts for about 30 minutes. Again, not sure if due to anxiety or something else.

My leg that has fasciculations seems like it goes a bit numb and so do the toes like it is not getting blood flow. I believe this is not consistent with ALS?

Questions I have:

1. Main one - does the fact that I have weakness in my lips combined with the dirty EMG, fasciculations, cramping and timeline fit the ALS realm of possibilities?
2. Have seen many Facebook posts and YouTube videos of people talking about their ALS diagnosis say they have these symptoms like fasciculations and cramping for a year or two and then get weakness. So, because I haven't had weakness yet, that makes it sounds like it still could be coming?
3. And can I even say I don't have weakness? I mean, my lips are certainly weak, does that count as having weakness? I just don't have weakness anywhere else likes arms or legs or hands.
4. Is it likely something else if so much time has gone by without weakness? Again, Dr. Google says there are instances where bulbar ALS can stay isolated for a couple of years before spreading. Is this true? Should I be preparing now with things like voice banking?

NOTE - I have seen 2 neurologists. One who is not familiar with ALS says he spoke with other doctors and they said, and I quote "we have never seen ALS progress this way, but I guess it is possible." The other neurologist who is more familar with ALS says it remains in the differential (which I take to mean that it could fit but it could be something else).

My next step is that I am going to be getting an IVIG in a couple of weeks as there could be some chance that this is autoimmune related and I am waiting back on genetic tests.

I REALLY value the opinions and insights of the people on these threads who are very astute as finding patterns that fit ALS and very much appreciate sharing what you all think. Thank you!

 

[lgelb]

If you could post the de-identified EMG report/table, we could be more helpful.

I have never heard of an ALS presentation isolated to the lips for 20 months, or pure lip onset at all, for any length of time. Whether weakness will follow elsewhere no one can say without a dx, but we can't necessarily connect the twitching to the lips, either.

Were these neurologists at academic centers? You could go to KC or Chicago for another opinion.

 

[BulbarScared007]

Yes, I could look into trying to get those EMG reports uploaded. The neurologists I saw were at a hospital called Kaiser Permanente and yes, will certainly go for 2nd opinions.

It is a bit reassuring to hear someone as familiar as you are say that you have never heard of presentation like this before. So odd that when I Google that exact questions, the results say stuff like yes, it is certainly possible for it to hang out for a bit before progressing. And I also uploaded my results to AI and it pretty much diagnosed me with ALS. I am REALLY hoping that AI is wrong!! It is not that powerful...yet.

But still - my symptoms seem to be pretty big hallmarks of ALS with the twitches, cramping, weakness in bulbar region and especially the gold standard of the bad EMG.

 

[lgelb]

Ugh, please, AI is very far from a neurologist. And you are wrong about the "hallmarks."
Again, we haven't seen your EMG. There are a lot of ways to be "dirty" and some of them are a bug on your windshield.