Symptoms

[Meredeth]

Symmetrical progressive weakness head to toe. Long journey 2.5 years.

Neuromuscular has said at this point no MND wait & see. Swallow dr says MND palate twitching and is now sending me breathing Dr. due to the air hunger.

Balance issues. Jaw jerking randomly. Twitching is everywhere but mostly where more loss is- face shoulders, neck, back, lumbar and core. Vibrations in muscles. Pain in nose & face constantly and trying to figure out if that is from the muscle loss and the other muscles compensating. Same with the head pain when holding head up. Burning in mouth, tongue gums. Lots of testing- some things show weakness swallowing.

Could 2.5 years still be MND? . 52f Thank you

 

[lgelb]

If MND is not evident after 2.5y, there's a very slow disease process going on (and the one you're describing doesn't sound like ALS) or there is something else going on.

Was your EMG normal? Was imaging done?

 

[Meredeth]

Thank you for responding. The journey and testing is long so I didn’t put much.
Started Nov 2022
Weird head symptoms found out iron level at 2 and BP was 190/92
Got those things taken care of within months but we aren’t sure how many years iron was down I never showed symptoms of that, in addition to losing about 50lbs in 5months. Symptoms kept progressing.
First EMG was July 2023 just lower leg since they didn’t see anything.

Had another Dec. 2023 by independent neuro from my chiropractic and it showed spasticity in arms but neuromuscular won’t consider that one. I have had 5 since Feb 2024 different neuromuscular dr. right and left sides arms and legs and some have done under chin and then left jaw. They won’t check core or glutes where much of my weakness is (not sure that matters) and I’m not sure what other muscles in face they would check. It’s so strange I absolutely never have vibrations or twitches during test but again I think that is irrelevant also. I believe it would still pick up issues?

I honestly have had every test imaginable some even 2x. Lumbar puncture should mildly elevated proteins 2x. Brain MRIs show white matter but they say most likely age appropriate and is stayed the same at this point which was a year ago for last test but the 2 prior were a year apart no change one also showed system generated brachial neuritis but . Blood tests have been excessive. Things are elevated, hsv which they say half the world has and infectious disease said this isn’t that. Blood smear showed GRANULOCYTOSIS, they didn’t seem concerned, last 2 ferritin were elevated which is new that never was before.

Neck and back do have multiple issues with herniated discs and multiple other things but they say that isn’t causing issues. Neurosurgeon keeps saying it’s a neuromuscular issue. They did check NFL 2024 and again recently about a year apart no change really it was different labs but still levels were good. Everything keeps progressing with the talking being super concerning at this point with the way it makes my throat, gums feel. I’m not sure if it triggers the sensations in head but lyrica does nothing for it.

Of coarse the balance and weakness is concerning as it has progressed also this entire time and no amount of exercise seems to help the muscles will not build or contract especially in core and glutes no matter what I try. I do have atrophy in both hands at pinky and ring fingers which does align with the 2023 EMG done by the private neurologist. Again I gave that to my neuromuscular and they seem to not think much of it.

They are doing the biopsy soon I guess of the alpha synuclein for MSA.
It’s a struggle every doctor Swallow, neurosurgeon, family dr. And dentist all say neuromuscular issue and they keep saying just wait and see.

Thank you again this is definitely physically and mentally draining which I have worked on both of those to continue to battle this.

 

[lgelb]

If Lyrica isn't helping, it does have its own downsides so you might reconsider it.

If 5 EMGs in <2y are not concerning anyone, it does seem time to explore more than neuromuscular etiologies and letting the internist drive for a while. Atrophy can align with testing without being sinister and yes, whether you had issues during the test or not, whether they tested all the areas of concern or not, the test is designed to pick up on whether your motor neurons or muscles themselves have damage.

Chiro-related EMGs are notorious for not being done by certified examiners and/or designed to induce you to consume more chiro services.

If speech is a big concern, you could check in with an SLP and see what their eval shows.

A big unintentional weight loss and unexplained high Fe/oral burning seems much more systemic to me. I suppose hemochromatosis was ruled out.

 

[Meredeth]

Again; thank you.
It’s hard to move on when your swallow doctor is adamant that it is bulbar onset. She is the one that totally brought it up and has pushed the issue and continues to push it to the neuromuscular since Jan 2024. She firmly believes that the weakness shown on my swallow test and the weakness in face, tongue; core, neck and head back it all up. The talking causes severe throat pain, hoarseness and lack of oxygen, biting lips & cheeks, which is now why she is doing the pulmonary function test to see if the breathing issues match the fluoroscopy test results with weakness in throat. My family Dr. also agrees with the swallow doctor. I mean it’s a struggle to keep myself upright without severe pain which is due to my loss of strength. That is just my core and head areas. She isn’t even counting the weakness in all my limbs.

We have exhausted all other routes; my neuromuscular also didn’t suggest any additional directions. They have settled on just wait and see what progressions happen are this point but refuses to acknowledge the swallowing and talking issues as a possibility for onset. They have basically said until they see complete failure of something that they can’t diagnose.

 

[lgelb]

PFTs is a good thought as is a sleep study since it's hardest to breathe supine.

What does "swallow dr." mean in terms of specialty? An ENT?

If your head isn't staying up, you could try a cervical collar for better support and/or use a rollator.

If 2 docs agree and the neuro doesn't, it might be time for a second neuro opinion at an academic center like Cleveland. But again, there are still very much more systemic features in what you have mentioned.

 

[Meredeth]

She is a Ent that specializes in rare swallowing disorders, another ent referred me since I have the palate twitching and they had never experienced that. She is at OSU which I have seen their neuromuscular and it was extremely disappointing so she actually did refer me to Cleveland and I went and unfortunately it was even more disappointing as my appt was with neuromuscular but they actually said as soon as we walked in…oh I know the doctor you saw and at this point we don’t really need to evaluate you as that doctor is very good. So unfortunately it was a wasted trip. It was sad.

It just seems odd that all the neuromuscular are absolutely set that all mnd have a very distinct pattern so it’s easy to diagnose and that it would be a limb first effected. I feel like most say everyone’s case is different and no 2 are alike.

So I have been to the top neuromuscular departments in the state and I would have to sadly say I wouldn’t pick either for continued visits or recommend anyone to them. I have a neuromuscular now that is at least somewhat listening the others absolutely refused anything. I’m praying that they are right; but again my swallow doctor is at least trying to get some help with the current symptoms. I would like to think that she is not more versed in this than 2 top als clinics in Ohio.

My current neuromuscular is within a clinic also and my regular neuro has been watching for 1.5 years also.

They seem very set that it has to start in a limb and that swallowing and talking isn’t a concern for mnd. Very weird and scary. So they said confidentiality it’s not als but then says 3-5 years and wait and see.

So it seems strange that so many say if after 2.5 years there isn’t some clear signs then move on.

This clearly isn’t a familiar territory for me so all I know is not long after it started some friends that are nursing professionals told me to log my symptoms and at this point this has been pretty much symmetrical all the way from head to toe and that emgs that have been done are not showing anything which is good but you can’t help but wonder how good the operator really was with how they have handled themselves professionally. I hate sounding negative but it’s been disturbing. We don’t have total understanding of emgs but it almost feels like we would have to tell them exactly where to place the needles!

I guess I don’t understand what you mean by systemic?

Thank you

 

[lgelb]

Systemic in this context is something whose primary cause is not neurological.
I understand your frustration but five negative EMGs across multiple regions does not support ALS.
It sounds like your iron was low and is now high -- not knowing what labs were done, you might ask your PCP if a hematologist might have a look at your record.
I find it very hard to believe that OSU and Cleveland Clinic would forget about ALS subtypes apart from limb onset, and I'm pretty sure they have diagnosed bulbar onset in their time.
It is common for a NS to turf back to neuromuscular, but that is for evaluation, not stating a diagnosis on their part.

 

[Meredeth]

Gotcha, Thank you. Unfortunately I have been to all other doctors already! Hematologist, rheumatologist, neuro surgeon, heart, infectious disease, ents, specialty surgeon for eagle syndrome who said neuromuscular issue also along with all the other doctors and my pcp has ran about every test imaginable to rural out everything else and has seen the progression in weakness and also the tongue and doesn’t ignore the confirmed weakness in throat. Also have stayed in with counseling who also see the physical issues and say it’s a physical issue and they can’t call it a mental health issue.

Neuromuscular seem to be an extremely tight group in Ohio and don’t want to step on another Dr. toes. But that really isn’t helping the patients much.

Clearly it has to be only time even though 2.5 years seems like enough time to diagnose but then doctors say 3-5 years. That is from my current neuromuscular doctor who says not MND but then also says have to wait it out. That’s weird.

I know my symptoms seem super widespread because they are and seemed to have all started at the same time because that is what it has seemed to be. But there is no question when you are walking through this that you don’t know what weak lip and face muscles feel like or core, arms and legs. The appearance of just the face and lip muscles alone are easy to see.

My iron is actually fine it’s been checked consistently since Nov 22.
It was only the ferritin that was elevated
iron, iron saturation were all good.

All I know is I’ve seen studies that ferritin could be elevated and also that the confirmed brachial neuritis is a misdiagnosis early on in MND. So with that and my all over weakness and falsifications it seems odd that this isn’t a neuromuscular issue.
Have to think that emgs are a bit reliant on the person performing them!
Which is scary since I had one done that was in my chiropractor office but it was a neurologist who performed it. They rent the space and travel doing emgs, vngs and other assessments as an independent neuro group not affiliated with a health network. Then all the others haven’t picked up anything.
Thank you so much for your input.