Could this be ALS?

[artis]

Hello and thank you for taking the time to view my post. 32 year old male here.

It all started almost a year ago in the middle of August when one morning my voice sounded a little hoarse as if I had a throat infection or something, but no sore throat or any other symptom suggesting I was sick, just the mildly hoarse voice. After work I drove for 3 hours to go to vacation. When I arrived I couldn't talk and have almost completely lost my voice. It was reduced to a hoarse whisper with people barely being able to hear me. Without intending to be overly dramatic, the closest resemblance is of whispering Batman. I had a glass of water as I thought my throat was dry or something. Immediately after the first 1-2 sips I choked severely and fell to the ground fighting for air. I coughed out water that went towards my lungs. This persisted and I had to drink water very very carefully to avoid choking.

2 days later I went to the ENT. He thought I might have some sort of viral infection, but it didn't get better within the next week. He examined my larynx with one of those tiny cameras and diagnosed my with right vocal cord paresis. The right vocal cord was barely moving while the left one was overcompensating.
I had to learn new way of drinking water without choking taking small sips while leaned forward and exhaling sharply between each sip to avoid water going down my airways. MRI of head and neck, blood work and EMG showed absolutely nothing.

Around 1.5 months in I started to experience a stiffness behind my right knee which appeared a couple of minutes after I started walking. I can't really describe it. It was like someone held a sandbag behind my right knee. It didn't hurt or anything I just felt it there. Over the next couple of weeks, similar sensations started going down my calf and up in my inner and front thigh. Random fasciculations started appearing throughout my body. There were some hotspots that persisted for a few hours to a few days, but it was mostly random. It seemed like only 1 place twitched at a time. Every possible muscle twitched at some point, even ones I didn't know I had.

Right calf become extremely intolerant to exercise. Walking on toes was impossible on right leg since it caused excruciating burning pain.

Suddenly around the 2nd month mark my voice started to get stronger and fully recovered in the course of the coming 2-3 weeks and has remained normal to this day.

Around the 3rd or 4th month my right arm started to feel weaker and started to get very stiff neck. Just the 10 minutes drive to work caused my right shoulder and triceps to feel burning fatigue while just holding the steering wheel. Shampooing my hair caused my shoulder to burn and I had to shampoo with my left hand. Neuro visits showed brisker reflexes on the right side.

I have recurring episodes severe neck and lower back pain and pressure as if the area is severely inflamed.

Another round of EMG, full spine MRI and blood work yielded mostly nothing. There was some signs of radiulopathy in both legs and arms on the EMG, the MRI did agree with some bulging and herniated disks, but neurosurgeon was absolutely sure it was nowhere severe enough to be causing such symptoms.

Fast forward the coming months. The burning calf pain slowly reduced and I can mostly walk on toes, but I started noticing that running was getting tougher. I had the feeling like my right foot was slapping after a minute or two and my tibialis anterior muscle felt very fatigued and weak. I stoped and tried walking on heels. Right leg was too weak to do it. Went to another neurologist who diagnosed right leg paresis and was shocked when noticed my right (dominant) leg was noticeably thinner than the left. I voiced my concern about ALS. She did reassure me it doesn't look like ALS to her, but then proceeded to tell me that ALS ALWAYS starts bilaterally and that it cannot start in Bulbar, but rather end there becase "when it reaches bulbar muscle, you die". Needless to say everything else she said was less reassuring from that point on. Still she wrote a referaral for EMG to rule it out.

I managed to find a lab that does NFL and NFH blood tests. Both were normal with the NFL being 4.5 pg/ml.

Which brings me to the last 1 month. I had the last EMG. The operator said she doesn't "see ALS", but sees severely polyphasic motor units in legs and a bit less severe polyphasics in arms. Also there is a prolonged F-Wave latency in my right leg, but "no denervation". This confused me a bit, I was left with the impression that polyphasic motor units are signs of chronic denervation and reinnervation. Anyway, she said "if it was ALS I should have seen this and a couple more things which I didn't see". I asked if this could be early ALS. She picked her words carefully and replied. "If it was ALS it would have progressed much more since the winter".

She thinks I have a widespread spine issues which causes damage/irritates my nerve roots.

Lately I have experience mild ache in my shoulders and intolerance for any physical activity. A longer walk causes my legs to be sore for days afterwards as if I overdid it in the gym. Same goes for my arms if I carry a heavier bag to my car.

Other interesting things.
ANA screening increasing since winter - 82, 284, 395 AU/ml.
All other rheumatological tests were normal - C3, C4, anti-dsDNA, etc, etc. ANA screening was deemed "false positive for some reason"
CRP and ESR consistently slightly elevated.

I know all this is atypical especially for my age, but everything else was ruled out. MS negative MRI, negative for autoimmune, no trace of any infection. All doctors send me back to the neurologists. All of them are convinced there is something going on, but can't tell what it is.

Has anyone experienced something like this?

Thank you.

 

[lgelb]

If you haven't seen one, a rheumatologist is the best kind of doctor to suggest any other tests or possibilities given the increasing ANA; they can review your records remotely if needed. As you say, it might be a false positive, which can happen, but it's best to have a specialist say that if not yet.

As I am sure you have heard, slightly elevated ESR and CRP levels can suggest that you might be getting over a systemic infection of some kind, but what you report seems beyond that (I presume GBS was ruled out?)

Your second neurologist is misinformed if she thinks ALS always begins bilaterally or that bulbar symptoms are the end. So I would discount her comments entirely.

It is, however, true that acute and chronic denervation are both part of the diagnostic criteria for ALS, but the only criteria, either. If you could post your report, we could be more helpful, but it does seem that you should seek another opinion at a neuromuscular center if the first neurologist is not up to further evaluation. The leading clinic in Bulgaria appears to be the University Hospital Alexandrovska.

Is your vocal cord paresis the same as when tested? Your voice? Your leg? Some of what you wrote is in the past tense, so I'm not clear on what's improved, what's worse, what's the same as last year. How different is what you can physically do, compared with this time last year?

 

[artis]

Thank you so much for your reply.

I visited rheumatologist twice. First when we were initially looking at the possibility of autoimmune condition, thats when my first ANA screening result of 82 was received. He ordered an array of tests, all of which were negative, so he concluded no autoimmune condition. Half a year later I visited again due to rising ANA screening result, he repeated the same tests and a bit more - again negative.

My voice and swallowing issues persisted for 2 months and then gradually started to recover. I can speak and swallow perfectly fine for the last 9 months.

The leg issues persist and spread. They have spread to my tibialis anterior the last few months when I got the opinion of the "illinformed" neurologist that I have a leg paresis as I struggled to walk on heels infront of her on my right leg. I could, but barely and it was very difficult.

My leg stiffness has better and worse days. I do have episodes of a few days when I dont have it or just barely so, but it always comes back and as I said it seems to be spreading. Also a bit more streneous activities like long walks cause my muscles to be sore for the next few days as if I overdid it at the gym.

Visited 5-6 neurologists at this point. All of them think I don't have ALS, but also none of them can tell whats wrong and what bothers me is that all of them give me conflicting and contradicting information, the last neuro being the most extreme example.

I might consider visiting Alexandrovska hospital.

What puzzles me and frankly gives me hope is that some of the symptoms improved, like the voice and the calf size. I dont know how common or even possible it is for an ALS case to present with improvements. (one of my neuors think that the voice issues were a mere coincidence and not related to my leg and arm issues). But the overall thinning of my right leg, the spreading nature of the symptoms and the EMG findings concern me (polyphasic motor units in every limb and prolonged F-wave latency in my right leg). As for the EMG report, trust me, it would be of no use. They don't seem to follow the standard protocol when filling it. The usual EMG table has "normal" in every table cell, but in the comments the operator wrote "Severely polyphasic motor units in legs and arms. Prolonged F-wave latency in leg". There is an explicit cell in the EMG table for polyphasics and it is normal, which contradicts the study summary, so it seems she never bothered filling the table.

 

[lgelb]

Neither gradual improvement nor waxing/waning days suggests ALS, to be sure. F-waves are not important in ALS. We don't know what the rest of your EMG really showed, but again, the symptoms don't match up.

So on the basis of what you've said, I don't see ALS in the picture, but agree that if it's spreading out overall, something to get a more informed opinion on in case it's a treatable inflammatory myopathy or something like that. So that's where somewhere like Alexandrovska might fit in.