Bulbar ALS?

[SNicole]

Alright so about two months ago I opened a post stating that my speech/sudden lisp has been bothering me. (I couldnt figure out how to re-open the thread so im sorry for posting twice) And honestly it has gotten worse, many s and z’s now come out as a whistle and i have to talk slower to make sure i pronounce everything correctly . My words only come out fine but only because i have to think of them before i speak and if i know i have trouble with a word, i dont say it. My family and friends dont really notice. But i messed up a phrase the other day and my dad said “are you drunk?” Jokingly. I had an emg two days ago of my limbs only(legs, upper and lower arms, and lower back) , but its clearly not my limbs that are the issue. My tongue quivers ( not like worms, but definitely quivers) . My speech gets worse throughout the day and when its cold. And my lips feel weak and twitch and cheeks feel flaccid. Im beyond frustrated because the docs are of course saying that im fine since my limb emg came back normal, but I KNOW something isnt right. Any reccommendations? Im a 21 year old female and know itd be rare but something clearly isnt adding up. Plus i had an MRI about 5 months ago, so its most likely nothin tumor wise.

 

[ShiftKicker]

Mod note: Here's the link to your past thread here: https://www.alsforums.com/forum/do-i-have-als-als/40744-genuinely-concerned.html
for those members that wish to access your previous discussion. If threads are left with no new posts for a certain period of time, it's closed automatically.

What is the next proposed step for exploring your symptoms and concerns? There are many other things aside from Motor Neuron Disease/ALS that can cause speech difficulties and tremor. Have you recently seen a ENT specialist for assessment?

 

[SNicole]

Thanks for the reply! So the next step is for me to see a speech/voice specialist and see if they find anything strange. And yes for the longest time I thought it ran more along the lines of MS , simply from the numbness and tingling of my face, but that got ruled out through the MRI (even though the never did a spinal tap). And they ruled out MG. ALS is the last thing i would want this to be but im so frustrated that I waited a month for an EMG and he never did my tongue. I havent seen an ENT specialist at this point, just went to the neuro then EMG doc then back to the neuro. And theyve also done every blood test they could possibly do to rule out anything else. Im just at a loss of what to think.

 

[KimT]

I would see an ENT. I saw one at Mayo and they put a tube through my nose and down into my throat to observe my vocal cords. They also did a swallow test. Then I saw a speech pathologist. The whole thing took about 2 hours.

I would make an appointment with an ENT.

 

[SNicole]

Okay good idea. Did they find anything or was it just the EMG that diagnosed you? Im wondering if the speech specialist will even find anything being that no one really notices my issues, I dont want to do anything that would be wasting time. Hopefully the specialist does similar to me what your ENT doctor did. And if I had bulbar, do you think it wouldve shown in my limb EMG ? I hear mixed things

 

[affected]

It would have shown on the EMG of your limbs.

 

[SNicole]

Thank you. I would really hope so! Just seen a variety of stories so it makes me wonder of course

 

[Kristina1]

When you saw a neurologist I'm assuming they did a clinical exam. There are things they would see indicating bulbar onset, even without an EMG. I have bulbar onset. The neuro noted facial weakness, tongue weakness, jaw jerk, tongue and facial fasiculations, and speech disturbance just in the exam portion. I imagine if they saw something concerning in the exam they would have added the tongue area to your emg order.

 

[KimT]

I did not have bulbar onset but my right vocal cord had some paralysis. They also discovered pretty severe acid reflux. My swallowing was ok. Had the same test a year later with similar results except the acid reflux was under better control.

 

[SNicole]

Alright yall. Today I got 2 dx : one of HKPP(periodic paralysis) which is actually a gene mutation. You can live with it, it just sucks because you really have to watch what you eat

2nd dx: autoimmune calcium n-type calcium channel. Which I am going to have some treatment for and luckily some people’s symptoms go away in the first few IV’s.

So if anybody like me is on here thinking they have ALS, its worth looking at hkpp to be honest. Most people with hkpp have the exact symptoms of ALS besides the fact that the weakness/paralysis comes and goes.

And thank you to everybody one here who has helped me and given me awesome advice!

 

[ShiftKicker]

Thank you SO MUCH for coming back to report what you and your doctors discovered. Rare! I am very glad you kept at it with your doctors to pursue a reason for your symptoms.

I am glad at least part of it can be mitigated and the rest of it can be managed. Now that you have some answers, I am sure your stress levels will be more easily managed and hopefully help with reducing symptom strength.