Young and diagnosed

[Noey]

Have everyone, you may have chances upon me in the Do I Have ALS thread. Yesterday, I had an EMG. It confirmed to have fasciculations that are in favor of motor neuron disease. My neurologist went straight away to diagnose me with ALS. I'm still in shock and still having a hard time accepting this as I am only 23 years old but i thought i should go on here already. My family is keen on getting a second opinion because the only test i've actually had is the EMG. I have no clinical weakness just yet. Would you guys suggest a second opinion too?

Mod note : this patient returned and reported she had been cleared of ALS. Please see her post on March 17 2017 for details

 

[LifeEnthusiast]

Noey, fasciculations on EMG alone are not diagnostic of ALS/MND. There has to be other criteria like active denervation and a whole host of mimic diseases and structural issues have to be ruled out. I wouldn't hang you hat on a diagnosis just yet. Your family is right; a second opinion with a MND specialist is essential.

Other more experienced members will likely chime with more concise advise.

 

[Noey]

Hi LifeEnthusiast. Thanks. There was denervation that was noted on the table in the EMG. So yes, there is some denervation. There are honestly no other conditions ruled out since this is my first test. It's quite weird like what I said because I wasn't ordered any further tests, my clinical exam was okay, etc.

 

[lgelb]

Noey, MND is a diagnosis of exclusion. You would need to have both active and chronic denervation seen, with mimics ruled out via blood work, possibly a CT or MRI, and other tests as your history warrants. It does not sound like you've had the evaluation needed to say, "This is MND." And we always recommend a second opinion anyway. What hospital are you going to?

 

[Noey]

Would you know how i could see if the denervation is active and chronic based on my EMG? I know that the diagnosis seems a bit off given that this wasnt a diagnosis of exclusion rather a diagnosis... period. I go to Makati Medical Center. Like I said, here in the PH, this condition is really rare and we don't have specialists and such. We don't even have a local support group. My neurologist didn't suggest and MRI or CT Scan no additional blood work. It was solely based on my EMG.

 

[Nikki J]

Definitely you need another opinion. Do you have the entire report? Look for fibs and psws. Even if you see them it does not mean it is ALS but if you do not see them then I would question the diagnosis even more. If you do see them note how many muscles had them

I have seen a world famous ALS specialist quoted as saying he would never do an emg if there was no clinical weakness. If he did and it was abnormal in his opinion it would not be ALS if there was no weakness

 

[Noey]

I got 17 muscles tested. There were 9 with fibs. 14 with psws.

 

[LifeEnthusiast]

Noey, Igelb and Nikki are the right people to be answering your questions. I'd take their advice quite literally. MRI's and blood work need to be done. I do hope further investigations reveal another cause. King's Cross in London takes overseas referrals. I know it's expensive to fly from the Philippines but if you can manage it, I'd head there or perhaps Germany. Somewhere in Europe. You need more investigations and another opinion in my humble opinion. No clinical weakness seems odd to me. It makes me possibly think there is something else going on here, but I am no expert.

 

[Noey]

Thank you. I don't want to rush the second opinion as I wanna take everything in first. Is it possible to have an abnormal EMG like that and still not ALS? I don't wanna keep my hopes up. My weakness may just be late in arriving or my progression is just really slow.

 

[LifeEnthusiast]

If there was a remote chance to get a second diagnosis, I'd be taking it. I read back through your first post and there seems to be much reason to think there could be another cause.

You wrote before: "The twitching doesn't hurt at all. This has been making me so anxious, I'd randomly cry at night. Basically to sum it all up, I still do have the digestive issues that have yet to be resolved plus the muscle twitching that continues to happen and sudden muscle weakness. Pain in my right leg started last night but as of today, it hasn't hurt. It's been almost a month now. I'd just like to know if you think this is ALS?"

You talk of pain, weakness and digestive issues. And now your weakness has subsided and is not showing up on clinical exam. That alone would have me getting loads of bloodwork done and MRIs. And yes, to the best of my knowledge, other issues can cause a dirty EMG.

I think there good cause for a modest level of optimism here.

Regard

 

[Noey]

Thanks for the reply. My digestive issues have been resolved actually. My bowel movement is back to normal and so is my appetite. I will be getting a second opinion when I'm ready. Everyone just seems off that I got a diagnosis without going through other tests and exhibiting clinical weakness. However, my doctor also said she has a patient who has had no progression in 10 years. Can still walk and talk, just frail. So it means that he/she didn't have weakness as well.

I appreciate the idea of going out of the country, but we aren't rich at all. One of the modes we have here is actually stem cell. Anyone heard of it?

 

[Nikki J]

To start with celiac disease can be an ALS mimic given your Gi symptoms it should be considered. There are many others. Plus there is something called emg disease where a healthy person has a diffusely abnormal emg with fibs and psws. Not ruling out other diseases is foolish many respond to timely treatment. I understand it may be difficult to access specialist care but we see here people in the US whose local neuro diagnoses ALS only to have the specialist overturn it

 

[LifeEnthusiast]

Noey, I would question the validity of what the doctor told you. And I question any doctor that would diagnose you with no weakness on clinical exam and without first doing further testing. I would still insist on a host of blood work and an MRI. Neither requires you to go abroad. You seem very determined to not consider another possible cause of your issues. I will remind you that EMGs are also only as good as the operator. I would, at least, consider getting a second EMG done by someone well versed in electrophysiology. Beyond that I'm afraid, I've no other advice to offer you. I wish you all the best. Hopefully, you will learn much through this forum. Regards.

 

[Noey]

Hi Nikki. Thanks. You're right. It's kind of foolish that the rest of the possible conditions weren't even considered. We're currently trying to find a neuromuscular specialist instead so we could at least get a treatment plan of some sort cause right now I have nothing.

LifeEnthusiast, my EMG operator is one of the best in the country. However, i am really keen on getting other tests done. I have a gut feeling and a sense of hopefulness that i was misdiagnosed. I don't know why.

 

[swalker]

Noey, welcome. I sincerely hope you do not belong here. If you do belong here, you will not find a better group of people.

I was born in the Philippines (Clark AFB), but have lived most of my life in the United States and a bit in Europe.

I recommend everyone who is diagnosed get a second and third opinion. From what you have told us about your diagnosis, I think it is especially valuable in your case.

As others have said, ALS/MND is a diagnosis of elimination. There are many things that can mimic ALS/MND and those must be ruled out before an ALS/MND diagnosis can be confirmed. There are several sets of official diagnostic guidelines (you can find them on google). All require much more testing than you have reported.

Good luck. I hope and pray the diagnosis is incorrect. Keep us updated with what you find out and your pursue a second opinion.

Steve