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

[Ben335]

A quick update, I got my NFL test results back, it's 4.6 pg/ml, which is well within the normal range (given as 9.9 by Synlab). I assume this is using the SIMOA method, but it's not explicitly stated anywhere. The first round of genetic tests have also come in, so far it's been verified that I don't have C9.

The question I have though is that I've been taking folate (as per the recommendations of my neurologist) and I know that biotin can result in a false negative, but do you guys think that folate can also influence the test? I've never found any warning or caution about this so I doubt it, but I'm just trying to make sure.

[And yes, I know what I'm about to describe actively points away from ALS]

OTOH, my actual physical symptoms are getting worse. The fatiguability, the difficult to describe weird feeling and the slowed movements after repetitive motions are now also present in my left hand, alongside some mild-moderate pain that spreads all the way through my forearm when using my pinky, which is very similar in my right hand as well, it just doesn't hurt as much at the moment. This has been getting especially worse in the last 3 days, at this point it's painful to write on the keyboard, so now it's interfering with my ability to do my job.


I also have a burning pain sensation on both of my arms, numbness in my legs and that feeling of vibration that I've mentioned. I'm going to the GI doctor on Thursday, the main thing that I'm suspecting is that the first course of injections did not fully treat the B12 deficiency.

 

[Nikki J]

No the issue with biotin is specific because biotin is used in processing some lab tests

 

[Ben335]

That makes sense, thank you Nikki. I'm going to go back to the neurologist in a week or two, I'll report back to you guys with the new results. Hopefully more of the genetic tests will have arrived by then. (The SOD1, FUS, TARDP43 are still pending as well as MTHFR and SMA)

 

[Ben335]

Another update. I still have weird subjective symptoms, but objectively neither my PT therapist nor the neurologist thinks that there is any objectively noticeable weakness or atrophy or anything really concerning. I got the results for the MTHFR and SMA genetic testing back, I'm heterozygous for the examined MTHFR mutation and the SMN1 testing was negative.


The neurologist examined me and said that there were still no Babinski, the reflexogenic zones returned to healthy size, my deep tendon reflexes are markedly less brisk, my ankle reflex is normal but there's still Hoffman's present on my left hand, so objectively the clinical seems much better. The EMG is still left to be done in 2 weeks so I'm still not totally out of the woods yet I guess, but she seemed rather optimistic.

 

[Ben335]

I got an ENG and MEP, the neurologist felt like based on the current clinical status the EMG isn't really warranted at this point.

My clinical was mostly normal, I still have slightly brisk DTRs, a bit of ankle clonus and Hoffmann's, but the reflexogenic zones are of normal size and there was no Babinski or any other pyramidal signs. She tested me extensively, with particular attention to the limbs/areas where I feel subjective weakness but she said everything was normal, no weakness, no atrophy and no tone abnormality was present. I can stand on my heels, toes (even on one leg), pinch properly with both hands, show no sign of pronator drift, no tongue atrophy and normal gait.

She said that the ENG should show reduced motor amplitudes compared to the last study if this was ALS or any other concerning disorder, but they were all normal. Last time there was some evidence of minor axonal damage in my n. peroneus but this was gone this time, that nerve was normal as well.

The MEP showed basically the same conduction time to the left TA (16.7 ms) as it did last time (16.6 ms). She said that this is right around the edge of the limit of normal for my age group, but in ALS she would expect the value to be worse.

All in all, she thinks that the current clinical and electrophysiological status is reassuring and that B12 is much more likely to be the culprit here, according to her, ALS would very likely progress by now to have some kind of objective motor symptom and in ALS the clinical wouldn't improve as time goes on. I'm going to be getting an MRI in a few months and repeat testing in August. I understand her logic and trust her judgement in this but I'm still curious what you guys think, do you think I should get an EMG done elsewhere or is that unnecessary?

 

[Nikki J]

I would keep going with the b12. If I am reading this correctly you have no clinical weakness or atrophy , a normal nfl and no strong umn findings ( everything you mention is a normal variant and can be seen often if you are stressed which you obviously were). The mri findings were not as dire as presented to you and the emg you did have showed fasciculations ( benign in isolation) a lone psw and nothing else. In other words not suspicious for ALS.

I don’t think you have mnd from all that you have posted and I would try to live my best life and take my b12.

Good luck

 

[Ben335]

I appreciate your insight Nikki, you summarized everything almost perfectly, there are only two things that I would like to add to your comment. Initially my UMN findings were definitely abnormal, my reflexes were markedly brisk, there was Babinski, extended reflexogenic zones (the patellar reflex could be triggered from the tibia) and initially the doctor found some slight, but noticeable weakness in my right hand and foot.

Gradually all this stuff improved and as you said, now I don't have any actual weakness or any really concerning UMN signs. On top of what you listed I also had a few MUAPs with increased amplitude on the EMG. That being said, I agree with your overall point for sure, I think that based on the current status, it's almost certain that I was initially misdiagnosed and it's the B12 that's the culprit.