Could this be Bulbar Onset ALS/MND?

[BeckyB]

Hello PALS & CALS. Thank you for taking the time to consider my thread.
I am a 34yo woman who has been experiencing ongoing neurological symptoms for the last 9 months.

SYMPTOMS
Swallowing
I have had throat symptoms (swallowing issues) for this entire period. It would best be described as if my throat is collapsed/swollen or that there is a dead spot in the back of the throat which does not cooperate when I swallow. Recently this has become worse. I struggle with fluids, which get stuck at the top of my throat & find myself coughing. I have also choked on food, there is residual in my throat after I swallow & I need to swallow several times to clear. I have experienced regurgitation, and often need to burp a few minutes after eating to clear my throat (I do not have any signs of reflux though like an acid taste or heartburn). My vocal area or larynx (forgive me, I'm not too sure on the anatomy) feels 'tired' where it never did before. I avoid now talking & singing. I have to eat carefully, with a teaspoon & avoid dry, flaky, hard and fibrous foods. I have also noticed a slight lisp at the tip of my tongue when I speak for too long.

The swelling & choking recently worsened & I ended up in the emergency room. I was assessed by a speech pathologist who acknowledged the dysphagia and has recommended me for a videofluoroscopy. The ER doctors have also suggested a gastroscopy and barium swallow. I have an appointment to see an ENT this week.

Fasciculations
I have body wide muscle twitching, which are strongest & most regular in the shoulders and legs. This has also been ongoing for 9 months.

Possible atrophy
I have noticed what I believe to be a loss of muscle on my left hand & arm. It feels as if I have lost the 'meat' in this limb. My left palm & fingers ache and I can feel the tendons in my hand, whereas the opposite hand feels as normal - plump, meaty & no feeling of tendons. My wrist has recently slimmed, with my watch & rings now spinning, but I have not lost any weight recently. My forearm feels like it is missing muscle too and the left arm measures approx 1cm smaller than the right. The left arm essentially feels like just fat and bone.
(I have also recently started noticing stringy tendons on the side of my face/jaw - not sure if relevant)

Weakness
My upper arms tire very quickly. I am able to lift my arms, but I get fatigued easily even stirring a pot on the stove.
I was assessed by a ER doctor who noted that my left wrist is noticeably weaker than my right. She was able to bend it when I tried to resist, but could not do so on the alternate side.

Instability
Just yesterday I noticed when going for a walk that I was extremely unstable. My left foot seemed to be struggling on the uneven surface & the leg felt very shaky. I also noticed it today upon standing & walking. I need to keep an eye on this.

NEUROLOGICAL TESTING
Initially my doctors considered whether I had MS or Guillain-Barre, so I have had MRI of the brain and full spine, EEG and nerve conduction studies. These were all clear.
I had an EMG of the left arm & left leg in February which came back clear. I have not had one of my tongue/throat area and I did not have arm weakness or any suggestion of atrophy back in February.
I have been assessed by neurologists, but they have not had anything helpful to offer. As my tests so far have come back clear, they are unfortunately quite dismissive. When I mention my issues with swallowing - they suggest globus, which it is most definitely not. The neurologists' physical examination did not identify any weakness. My reflexes are normal.

QUESTIONS
My questions to you are:

1) Do you think these sound like Bulbar Onset ALS symptoms?

2) Would it be worthwhile getting another EMG - of the throat and left arm?

3) Is there any other testing you would recommend?

4) If there are any Australians in this forum - where is the best place to get assessed & tested fairly without being dismissed?

Thank you again for your time & any responses.

BeckyB

 

[Nikki J]

your ent appointment may be helpful in giving answers and or direction.

where is your gp in all of this? They should be able to direct and advocate for you.

depending on the outcome of any ent testing one of them should be able to suggest next steps

generally we say that it should be up to the doctors to decide testing. Given what you say another emg doesn’t sound unreasonable but some doctors do react negatively if you lead with I want x y z tests.
We do have Australian members. If you give an idea of your location they may be able to make specific recommendations

 

[BeckyB]

Thank you so much for your reply, Nikki J.

My GP was very helpful initially. They organised most of the initial tests. I was then referred to neurology who said that it was functional (as the tests came back clear). Once the neurologists said that, the GP has unfortunately been less willing to advocate for me & to try and find a genuine answer, despite my symptoms worsening.

If I were to get another EMG (throat, arm, leg) and it comes back negative, do you think that would be enough to eliminate ALS/MND as a possible cause of my symptoms?

 

[Nikki J]

Yes.

functional neurological disorder is not a diagnosis of exclusion , is a real diagnosis ,does not mean you are crazy and is treatable do a search on this subforum for it. I have made a few posts about it Also search David Perez Mass General he is a leading expert in the field. From what you say I don’t think you were properly diagnosed with it but learning about it will help you talk to your gp about the possibility of having it and if so what to do about it. If you have it the sooner it is treated the better the prognosis

to start read this and the links The Road to Functional Neurological Disorder

 

[BeckyB]

Thank you for the link, Nikki J. You are correct, it is not meant to be a diagnosis of exclusion, but unfortunately I think that’s how it’s been applied in my case.

I have looked into FND in quite some depth (countless journal articles, resources from the neurologists, websites, forums/support groups). Disappointingly, it does not seem to be the right fit.

I saw the ENT about my swallowing concerns. He did some lower cranial nerve tests & performed a nasendoscopy, which all appeared normal. He agreed with the speech pathologist in recommending a videofluroroscopy, but does not think I need an endoscopy or barium swallow. Is videofluoroscopy a good diagnostic tool to either confirm or rule out ALS/MND?

What type of testing would confirm or rule out bulbar ALS/MND? I’ve seen a few threads on this forum where people have been diagnosed without an confirming EMG. The neurologists have so far put the dysphagia, dysphonia, fasciculations, feet & hand issues down to being functional. I don’t believe my concerns will be taken seriously unless a test confirms it.

Can anyone advise on next steps please?

 

[lgelb]

ALS is certainly a diagnosis that must be supported by testing (not sure where you read otherwise here). Guidelines widely used to confirm ALS clinical trial and treatment reimbursement eligibility, do in fact, require an EMG. That yours was clean argues strongly against any lower motor neuron dysfunction, which is essential for an ALS diagnosis. If a second is clean, even better.

Besides an EMG, labs and any imaging needed to rule out alternative diagnoses, tests that could be used as part of the diagnostic process in any category of diseases, depend on what doctors see in your exams, your medical history, and current conditions. Fluoroscopy is not to rule out any one disease, but to gain more information about the state of and structures that support your swallowing. What happens next should depend on those and other results.

 

[affected]

Please don't think you can research with google and suddenly be smarter than your doctors.
If you don't think things are correct, make an appointment and discuss it with your doctor who can talk with about the context of your case. We can't possibly get ourselves involved in arguing this with you by text.

 

[BeckyB]

Thank you for your reply, Laurie. I completely understand that diagnosis needs to be supported by testing. What I am uncertain about is whether bulbar onset can be occurring despite an EMG of the limbs being clear 6 months ago. Is it necessary when organising a follow up EMG to ensure it also looks at the upper body (neck, tongue etc)? I will also be undergoing a follow up brain MRI. I was wondering whether there are any other generally used tests that might be helpful.

Affected/Tillie, thank you for your reply. I certainly don’t think I know more than my doctors in relation to anything medical. I will be seeing both my GP and neurologist over the next few days.

 

[KimT]

Becky,

I'm sorry you're going through all this. Bring up all your concerns to both your GP and your neurologist. It helped me to write down my questions before I went to the appointments. I was already diagnosed. with ALS when Mayo sent me to their ENT. She had them do a swallow test and it was negative at that time. I had a bad case of GERD, most likely from stress and overeating.

In your case, I would thing a swallow test would be appropriate and would show them exactly what your muscles are doing or not doing during the swallow. The ENT was most helpful to me.

 

[lgelb]

The hallmark of ALS is specific abnormalities on the EMG even in muscles that are not perceived as a problem. So the answer to your question is generally no. I don't understand why you would need a second brain MRI, either, unless there was some technical issue with the first.

There is no single confirmatory test for ALS, if that's what you are asking. But it cannot be diagnosed in someone with only negative EMGs, though upper motor neuron disease can be if/as the most up to date EMG technology is unavailable.

 

[affected]

What ALS specialist are you seeing?
If you think your doctors are wrong, get to a speech pathologist for evaluation. Just don't try to solve this on the internet.

 

[KimT]

Sometimes MRIs are done through local neurologists without contrast. Mayo made me do a second one with contrast so that might be the reason for a second MRI.

My EMG was indicative for ALS in all four limbs, in the beginning, but my SCM EMG was normal. Dr. Boylan said that was a common finding early on.