Abnormal EMG, clinical and MRI, possible ALS according to neurologist

[Ben335]

Hi everyone, I hope I'm posting in the appropriate category

I got a diagnosis of likely but not definitive ALS on Thursday.

-I'm a 28 year old male, with no family history of ALS, but a history of Alzheimer's.
-I have been diagnosed with severe scoliosis and kyphosis in my teens.
-I've had a diagnosis of some kind of vestibular disfunction based on caloric testing.

My issues started in August, with sensory symptoms in my right foot. I noticed a feeling of vibrations, warmth which progressed to numbness and a reduced sensitivity to pain. It wasn't affected by leg/feet position (so it persisted even I was walking around or laying in bed) and slowly most symptoms disappeared aside from numbness that occasionally shows up even today.


After this, around approximately October the fasciculations started. They were body wide, were not localized to a given area or limb, they happened on the biceps/triceps area of both arms and on my thighs as well. They weren't constant or even very persistent, just a few twitches with a steady rhythm once or twice a day.


The next step was increased muscle fatigue and muscle ache even after light physical activities such as carrying not excessively heavy loads. (say bags of groceries, mineral water, etc.) I could still carry heavy objects, I just had muscle aching afterwards. The other problem was a feeling of a temporary loss of agility in my right hand after these physical activites. My hand felt a little funny, especially with fast, pinching type movements, I can't say I noticed any actual weakness, in the sense that I stopped being able to do things that I had been able to do previously.


I also noticed occasional muscle pain on my forearm and back muscles and tightness and pain in my legs.

So far, this sounds exactly like the hundreds if not thousands of stories you guys have probably heard, right? Anxiety, stress, magnesium deficiency, whatever.


I went to my GP and she prescribed magnesium in December, got bloodwork done which didn't show anything odd beyond slightly elevated billirubin levels. The Mg worked a little but it didn't stop the fasciculations entirely.

My GP referred me to a neurologist, I went to her office last Tuesday. After the examination, she said she wanted to rule out MND and MS so she ordered an MRI for Wednesday and on Thursday, I had another round of physical examinations and got an ENG/EMG and a MEP exam.


The clinical exam showed hyperreflexia, Achilles clonisation on both sides, positive Babinski on the right side, reduced grip strenght in my right hand and reduced dorsiflexion on both feet that's more apparent on my right feet. (Although I can still walk just fine, I can even walk on my heels and my toes)

My MRI showed my pyramidal tracts with increased intensity on some slides.

The ENG, EMG and MEP all showed abnormalities as well.

The ENG showed axonal damage in my left peroneal nerve, the EMG showed fasciculation in my limbs and my paraspinal muscles, PSWs in my neck muscles on the right and giant positive potentials (exceeding 5mV) in my right ADM and right TA.


I'm posting the original EMG in Hungarian and my own translation. I'm not a medical professional or a native English speaker, so there may be some inaccuracies in how I translated it, but I'll do my best to try and keep the original phrasing intact.


Based on all this, my neurologist said that ALS remains likely as a diagnosis of exclusion, since she can't think of anything else that could explain all the findings. She told me to get a second opinion, and I'm working to get in contact with a very well respected neuromuscular specialist in a nearby town. I'm supposed to go back to her in a few months, she also said that the passage of time will also help with the diagnostic process.


After the exams, my fasciculations are more intense and so is my muscle aching, and stiffness in my legs. After physical activities (for example, today I helped my uncle move some not too heavy objects) I get increased soreness/aching especially in my right forearm, but biceps and my thighs also hurt, especially when standing, even my back muscles hurt on occasions. I'm not sure if this is just a simple side effect of the exam, a symptom of the disease, a psychosomatic reaction to the anxiety I've been having after this appointment or something else entirely.


I do have to point out that my spinal issues are very serious, the doctors even recommended surgery when I was a teen but my parents ultimately decided against it. My neurologist didn't seem to make note of this and unfortunately I failed to emphasize it enough. My document says that my spine has a healthy curvature, that is absolutely not true.


I have a relative who is a neurologist and she also suggested that I should seek a second opinion and I'm definitinely planning on doing that, but still, I wonder what can you guys make of this. I'm probably not wrong for assuming that this a rather strange presentation. Thank you for the help in advance.


Electrophysiology translation:

ENG:
motor:
right n. medianus: DML: 2,7 ms, ampl: 9,4/9,3/10,7/6,0 (the latter wasn't supramax. excitation), speed:
61/67/86 m/sec,
right n. ulnaris: DML: 2,7 ms, ampl: 8,5/8,9/9,0 mV, speed: 56/71 m/sec.
right n. peroneus: DML: 4,1 ms,. ampl: 6,2/5,7/5,6 mV, speed: 52/69 m/sec,
right n. tibialis: DML: 5,0 ms, ampl: 11,9/2,1 mV,
left n. tibialis: DML: 5 ms, ampl: 14,1 mV,
left n. peroneus: DML: 4,1 ms, ampl: 4,9/4,4/4,7 mV, seb: 55/71 m/sec,
F min: right n. medianus: 27,5 ms, persistence 100%,
F min right n. ulnaris: 28,9 ms, persistence 100%,
F min right n. tibialis: 48,8 ms, persistence: 100%.

EMG:
right m. ADM: SA: F2+, doublets, T/A okay, baseline cannot be seen during max. innnervation, max.
ampl. 11 mV, giant potential.
right m. deltroideus: SA: F3+, T/A okay, max. innervation okay
right m. TA: SA: F2+, T/A okay, baseline can be seen during max. innervation, 6 mV giant potential.
right m. sternocleidomastoideus: SA: vivid PSW.
right side paraspinal muscles in line of Th10: discreet fasciculations

MEP:
left m ADM: CVI 5,2 ms,
left TA: CVI: 16,6 (normal upper range compensated for age: 15,3 ms.)

 

[Nikki J]

I am sorry this must be so hard for you. I hope you get to see the new doctor quickly. Please let us know what happens

I can’t tell how bad your emg is. Were the listed muscles the only ones tested? Also does F stand for fasciculations? Were there also fibrillations? I do see you had psws in one muscle too. My sense is the emg pattern doesn’t meet diagnostic criteria but I may not be understanding it well enough

Your spine issues may also factor in. Those of us with limb onset usually have spine mris as part of the ruling out other causes as well as a brain mri.

I wish I could say oh you are fine but I just don’t know.

Wishing you good luck and again please come back and let us know when you have solid answers from the specialist

 

[lgelb]

High bilirubin over time can affect both vestibular function and movement. Usually it is caught soon after birth but not always. To rule out brain damage related to the bilirubin levels, a brain MRI is typically done.

Untreated scoliosis/kyphosis can certainly lead to spine damage. I take it you never wore a brace or anything? There are still exercises that could help.

ALS seems low on the list to me.

 

[Ben335]

I am sorry this must be so hard for you. I hope you get to see the new doctor quickly. Please let us know what happens

I can’t tell how bad your emg is. Were the listed muscles the only ones tested? Also does F stand for fasciculations? Were there also fibrillations? I do see you had psws in one muscle too. My sense is the emg pattern doesn’t meet diagnostic criteria but I may not be understanding it well enough

Your spine issues may also factor in. Those of us with limb onset usually have spine mris as part of the ruling out other causes as well as a brain mri.

I wish I could say oh you are fine but I just don’t know.

Wishing you good luck and again please come back and let us know when you have solid answers from the specialist

Thank you for your kind words, I will definitely keep you guys updated.

-The listed muscles were the only ones that were tested.
-I don't think that there were any fibrillations and I'd imagine that F indeed stands for fasciculation, since the report says that they detected fasciculations in the limbs and paraspinal muscles.
-Yeah, the PSW was in my neck.

I did have a brain MRI, the radiology report did not make note of it, but the neurologist said that the pyramidal tracts are showing in a barely noticeable way on a few slides. It also showed a 12mm cyst on the wall of my left maxillary sinus and increased intensity in the retrobulbar fat tissue in my left orbital on one slide. The neck MRI showed polydiscopathy. The radiologist recommended a visit to the eye doctor to look into this retrobulbar fat tissue and whether it means anything.

The neurologist made no note of these findings, but I think the radiology report was only done on Friday, she probably found the pyramidal issues on the 'raw' MRI slides on Thursday and didn't really look for these other issues.

High bilirubin over time can affect both vestibular function and movement. Usually it is caught soon after birth but not always. To rule out brain damage related to the bilirubin levels, a brain MRI is typically done.

Untreated scoliosis/kyphosis can certainly lead to spine damage. I take it you never wore a brace or anything? There are still exercises that could help.

ALS seems low on the list to me.

I do have diagnosed gallstones, and I assumed that's what's causing the slightly increased billirubin level (24 micromol/l and 20 is the limit) but the GP mentioned Gilbert-syndrome as the reason.

The neck/brain MRI was indeed conducted, no spinal MRI though. A relative of mine, who's also a neurologist (although not a neuromuscular or EMG specialist) said that a spinal MRI and blood draw for determining B12, folic acid and serum magnesium levels are definitely recommended and she would have had these done if I was her patient. These particular values have not been measured during any of the laboratory testing.

Unfortunately I never wore a brace or did anything with my spine really, I do have a referral for physiotherapy but that's because of the ALS, according to the neurologist it could help with retaining muscle mass.

 

[Nikki J]

Make sure that the new doctor can see the actual images of your mri. It may be the system is such that they can be viewed by anyone with access to your medical record but you might need to get a disc or have them sent electronically. This is especially important as the radiologist did not report what your first neurologist saw. It is true that neurologists sometimes catch things radiologists miss but it is also true that mris can be overread by neurologists ( and by radiologists too)

If you have Gilbert syndrome then a slightly high bilirubin is common and unworrying. Do you know if your gp had the lab look at direct and indirect bilirubin? That would tell them pretty definitively whether you have it or not

 

[Ben335]

That's a good idea, I'll definitely make sure that the specialist gets access to the actual images. As far as I know, they have the ability to digitally access them, but I'll ask my GP about this.

As for the bilirubin, I don't think they differentiated between direct and indirect, it just has a single value of total bilirubin. The whole Gilbert syndrome thing seems a little odd, when my original bloodwork came back in December I didn't hear anything about this syndrome, however, when I got referred to the neurologist later on, the referral paper listed me as being diagnosed with Gilbert's. They did not tell me directly that they suspect this disease.

When I asked the neurologist about it, she didn't seem to be convinced that this Gilbert diagnosis is correct but didn't seem to think it's important.

I checked out your other comments and I've noticed you say that in ALS the neutrophils are increased especially in comparison to the lymphocites, this is true for me. Fehérvérsejt=white blood cell and éretlen=immature, I think the rest makes sense without a translation. I guess this may be another clue that could in theory point us towards the ALS diagnosis being correct. Unfortunately these values had not been measured in my earlier bloodworks in December and January of 2024.

I do have another question if you don't mind, is the pain/aching and the increased frequency of fasciculations after the exams normal?

I appreciate all your comments and your help, I'll make sure to keep you posted.

 

[Nikki J]

Please don’t quote ( removed your quote as you see). I know it is common elsewhere but it lengthens threads and it is hard to scroll with eyes or other alternative mouse methods)

It is possible the bilirubin differential was done with leftover blood after.

The neutrophil thing is not diagnostic as I think you know.

Re your question it is common yes whatever is or isn’t wrong with you to be sore after an emg and to twitch more. Your muscles are irritated by the needles. It is also true that twitches can increase when you are stressed which you of course are. Who wouldn’t be ?

 

[Ben335]

A few updates. I unfortunately had to postpone my visit to the specialist because I caught the flu, so I'll be going there on March 12. The local doctors downgraded my diagnosis after a second physical examination to a non specified muscular disorder (this time they found no sign of weakness of any kind and no Babinski).

I also got a ton of labwork done, my B12 levels are fairly low (89 micromole/L) so once I recover I'll be getting injections for that and I've been referred to a gastroenterologist. I'm hopeful that all symptoms can be explained by the B12 levels, but I'm still worried about the specialist's appointment.

 

[Nikki J]

Sorry you had the flu but otherwise sounds like good news. B12 deficiency can be a mimic for ALS. It was one of the blood tests I had as a rule out

 

[Ben335]

I just came home from the specialist and while he was very nice, ultimately he was unable to confirm or eliminate ALS. He did say that ALS is consistent with the overall presentation, but he didn't note any actual clinical weakness or saw any atrophy. He did say that my ability to stand on my heels seem a bit diminished, but currently I'm having pretty severe and widespread lower back and muscle pain, so I guess that could be the culprit.

All other tests that were measuring strength were normal. There was no Babinski, but I'm still Hoffman positive and hyperreflexive. He said the MRI changes are very discreet and ultimately not specific enough to confirm a diagnosis. He said the B12 deficiency is also an alternate possibility, so at this time he cannot say it one way or the other, it's possible that it's ALS but it may be just the B12. He also said that based on the symptoms other MNDs cannot be excluded either and recommended me to get a genetic test for SMA, and he said that due to the varying nature of my UMN symptoms, even PMA is a very remote but technical possibility.

So at this point all I can do is hope that it's indeed B12 or even SMA I guess.

[A technical sidenote, if I press reply to both of you will both of you get a notification of my response?]

 

[lgelb]

Yes, you are posting in a thread anyone can read.

If the spine abnormalities are related to SMA, that would influence treatment, so I would have to agree that SMA should be ruled out first.

Even if SMA is ruled out, it seems like there should be some intervention there (at least physio) before ALS is considered if everything else is equivocal. And there are probably more options for intervention than when you were a teen.

As well, it sounds like the B12 theory is headed for an empirical test, with the injections.

So you should have more data soon.

 

[Ben335]

Thank you, that all sounds good, I'll be meeting with my regular neurologist tomorrow, I'll bring up the SMA testing with her. As for the B12, I got 5 injections over the course of last week, they'll do follow up testing now but I've been told that even if the issue is B12, it can take a long time before there's any noticeable benefit. I do go to physiotherapy twice a week, which makes the pain worse but I'm sure it helps in the long run, whatever the issue ends up being. I'll make sure to keep you guys updated.

 

[Ben335]

I visited my regular neurologist today, got my blood drawn for SMA genetics testing and some other labwork, I discussed the results of the visit to the specialist with her, and she seems hopeful that it's B12 but as with the specialist, she said that ALS can neither be excluded or proven based on the current findings. (As it stands currently, there's no actual sign of atrophy or objective, clinical weakness.)

I have to go back in 6 weeks for the next round of B12 and a clinical exam, I still need to get an appointment with the gastroenterologist and the EMG will be repeated in May. The local neurologist still seems to be hopeful that it's B12, she said that the MRI findings could be the result of the vitamin deficiency. They both said that actual, serious B12 deficiency is very rare and they have only seen a few, predominantly elderly patients with it throughout their entire career and those people were in generally a really poor condition health wise, so the experience with those patients doesn't necessarily translate to my case.

I'll update the thread after the appointment with the gastro specialist. Thank you for reading and all your feedback and comments, I genuinely appreciate it.

 

[Ben335]

I hope it's not going against the rules to write multiple comments in succession like this, but there is something that I forgot to ask and I feel like it might be important.

The specialist told me that PT is insufficient and he advised me to focus on building muscle mass as soon as possible with weight training, starting at home and then graduating to the gym, because according to him, the more muscle I have initially, the better the prognosis ends up being.

I asked my PT therapist about this and she said that this is flat out dangerous advice. According to her that type of muscle building is heavily ill advised, for several reasons;

1.) my muscles are too tight and my spine is in generally in a bad shape and just because of that, she wouldn't recommend the gym
2.) if it's indeed ALS, that type of exercise can actually be harmful as well.

What do you guys think about this, is exercise in the manner that the specialist recommended actually advised against for people with verified ALS?

 

[lgelb]

Apart from any thought of ALS, the PT is correct that rushing into lifting with spine issues can bring on injury. I would ask her what more gentle conditioning she might recommend for you.