Specialist says he's 80% confident I do have ALS. Any reason to doubt this?

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swskelto

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Hello, everyone,

My name is Seth and I've been lurking on the forum for awhile now. Regardless of how things turn out for me, I want to say I admire your kind hearts and am thankful for the resources here. I'm sorry if this is too much information, but I figured it would limit the number of questions. I first went to the doctor in the Fall of 2018 at the age of 30. Here's my timeline:

2016-2018
  • First notice of symptoms: intense exercise (sprints, basketball, etc.) would result in right leg buckling. Assumed I was getting out of shape.
  • Buckling became more and more common. Rarely fell to ground.
  • By 2018, buckling would occur 3-6 times a week from normal day-to-day activities (e.g. walking in the kitchen).

Spring 2018
  • Tried running for the first time in months. Immediately noticed that legs felt very out-of-sync and it was very difficult to run. I again assumed I was simply out of shape.
Summer 2018
  • Began a running regiment of multiple miles per week. While I felt healthier/stronger, my running never felt normal again.
  • Noticed some slight numbness down the center of my right thigh.

Fall 2018
  • Noticed that my right thigh was visibly smaller than left. Went to general practitioner who agreed it was visibly atrophied and measured the difference.
  • Right bicep (my dominant side) also measured smaller than left at the doctor, although not as drastically. I did NOT notice weakness in arms at this time.
  • Noticeably cramping more often than before. Tried hydrating/eating better. Some improvement, but not much.

Winter 2018-2019
  • Local neurologist did EMG #1. "Abnormal" in both my quad and bicep. NOT widespread and normal elsewhere.
  • Nerve conduction studies all normal.
  • Plethora of blood tests, urine tests were normal.
  • Referred to IU Health in Indianapolis. Told their EMGs would be more reliable. EMG #2 showed same abnormalities on EMG. Not widespread and normal elsewhere.
  • IU Health believed it was spinal compression, but lumbar MRI showed stenosis, etc., but did not match location of atrophy.
Spring 2019
  • Thoracic, Cervical, Brain, Pelvic/Hip MRIs were all negative.
  • Second opinion by neurosurgeon confirmed the atrophy was not a result of nerve compression.
  • Weakness in right leg continued to worsen. Buckling more common. Finding moderate difficulty in everyday activities (squatting, stairs, driving, etc.).
  • First notice of weakness in arms. Not major, but also realized I was going to be "hyper aware" of symptoms by this point. Was not majorly concerned.
Summer 2019
  • Twitching began. Large, strong twitches in my atrophied quad. Occasional small, but visible twitches elsewhere (calves, feet, arms, hands, etc.). Assumed stress.
  • Referred to local rheumatologist who said he was confident I had polymyositis and that it was muscular.
  • MRI #6 on my right leg showed swelling.
  • Biopsy intended to confirm polymyositis shows denervation, but says "RULE OUT MYOSITIS."
  • Forwarded back to IU Health saying it is, in fact, neurological.
Fall 2019
  • Cramping continued to get more common and in unusual places (feet, hips, sides). If I flexed my atrophied quad it would stay contracted for 30+ seconds past me "releasing" it.
  • My arms have gotten weaker, particularly my right bicep. I can now clearly notice a difference in strength between left and right. There have been a few moments where I have been surprised by this weakness. For instance, I realized while helping someone move a couch that the task was, for the first time in my adult life, impossible.
  • IU Health mentions seriously for the first time that it is most likely an atypical form of ALS.
  • More blood/genetic tests negative.
  • Another EMG is ordered to check for progression.
  • I make an appointment with the Univ. of Louisville ALS Clinic.
Winter 2019-2020
  • Weakness in leg has continued to progress. Fell hard for the first time. Have since fallen 3 more times.
  • Twitching has worsened. More widespread, more common, more noticeable. I also realized that I have visible twitching happening in my feet/ankles/calves even when I don't feel them.
  • EMG #3 was done at IU Health, but not by the neurologist who is seeing my case. Going into it, I assumed this would confirm a diagnosis, but the neurologist doing the EMG said it still looked very similar to the EMG #2 done 11 months earlier. Abnormalities in both the quad and bicep, but not widespread. Even mentioned it could possibly be indicative of improvement. She said there were no fibrillations at rest. (OBVIOUSLY VERY HAPPY TO HEAR THIS AS I THOUGHT THIS PUT ME IN THE CLEAR!) However, she is not my doctor and, therefore, would not give me a real consult. She did not have a clinical observation or read my history.
  • Following my EMG #3, I met with a neurologist at the Univ. of Louisville ALS Clinic. This is the only time I have visited.
  • After the clinical observation and history review, he says he is 80% sure I do have an atypically slow form of ALS. He says he wants to do an EMG so he can assess it himself.
Upcoming Appointments:
  • February 3: my neurologist at IU Health
  • February 10: visit Mayo Clinic in Rochester, MN
  • March: my neurologist at the Univ. of Louisville ALS Clinic

I feel that the ALS Clinic neurologist should be my most reliable source, but the latest EMG has me doubting it. At the same time, the neurologist who did EMG #3 has almost no idea of my symptoms, etc. What are your thoughts? Thank you all for your time!
 
We’re always happy to take a look at the EMG if you want to post the results.
The time course is pretty long for ALS, though not impossible.
Onset in the biceps and upper thighs is also less common than onset in hands, feet, or even in hips or shoulders.
EMGs not showing widespread denervation changes or progression of these changes also goes against it.

So it’s not clear cut. Even if someone is “80% certain”, that means they are 20% uncertain. Most specialists will not give percentages.

Best of luck and keep us posted.
 
If you do have ALS, it is an extremely slow form. I wouldn't assume it is ALS but I think you have been very methodical in testing and tracking your symptoms. That will make it easier when you get the EMG.

You are correct in believing your ALS specialist is the most reliable source and, until he does the EMG, I don't think he should have given you a percentage or indication that you have ALS. There are so many mimics.

Let us know what he says.
 
Monomelic amyotrophy and other relatively benign muscle disorders still seem more likely than ALS. A spine problem could be superimposed on the EMG results. As others have pointed out, if it is ALS, or whatever it is, it is progressing slowly. And as also noted above, an "80%" is nothing to write home about either way.

I would certainly consider a cane or rollator and avoiding chancy situations if needed to reduce fall risk.

Keep us posted.

Best,
Laurie
 
Thank you SO much for the quick and helpful replies. I understand that at the end of the day, I just need to wait and see with my appointments. Still, it feels good to express this stuff in a place like this. (I don't think the Walmart cashier wants to hear me rattling off bits I found in the rabbit hole of ALS mimicks...lol)

As for the doctor that gave me the 80%, I have to admit that I did push him a little to do that. So after the clinical exam and history, he brought up ALS saying it could be a very atypical form. Knowing full well that neologists are usually hesitant to give much of a prediction, I asked how confident he was of that. He explained that he had already said more than he normally would by even mentioning anything ALS. He said he would normally hold off on saying that until at least the 2nd visit. But he also explained that because I had been doing this for over a year, and he had reviewed all of the other information (including the EMGs) he was willing to say that he was fairly certain and would put it at "80% confident." He added that he is very hopeful that he is wrong and we still need to wait and see. In a strange way, I feel more at peace now than I did before. I'm still keeping my mind open about it all.

I had a similar conversation a month earlier with the neurologist at Indiana Univ. Health (supposedly a highly esteemed group) who said he believed it was most likely ALS, but we would continue looking for any other possibility.

Anyway, the UofL ALS Clinic doctor highly recommended the trip to Mayo and said that I should find the absolute best care there. (Anyone have any experience with Mayo?)

I will try to post the EMG soon.
 
Monomelic amyotrophy and other relatively benign muscle disorders still seem more likely than ALS. A spine problem could be superimposed on the EMG results. As others have pointed out, if it is ALS, or whatever it is, it is progressing slowly. And as also noted above, an "80%" is nothing to write home about either way.

I would certainly consider a cane or rollator and avoiding chancy situations if needed to reduce fall risk.

Keep us posted.

Best,
Laurie
Thank you for mentioning the monomelic amyotrophy. That's not something I had looked at before, but I will do that. The last couple of doctors (rheumatologist and the neurologist that did the EMG#3) both said it was neurogenic and NOT myopathic. I'm not exactly sure why, but they were pretty strong on that.

Again, thank you all! I can't even express how appreciative I am!
 
This is EMG#2. It's the only one I have at the moment to share.
1579362435690.png
 
That EMG looks so benign that I wouldn’t hang my hat on anything at this point.

Even though the “wait and see” approach can be hard, keep doing what you can still do.
 
I know it. That EMG doesn't support a clear-cut ALS diagnosis. If it ends up being ALS, I'm obviously thankful that it is an atypical form. But it also clouds this part of the process.

While the EMG is only slightly abnormal (I know that ALS EMGs are much much more obvious) , they have matched up with the locations of atrophy. I'm not sure if that makes it useful or just a "duh" kinda thing.
 
All that we on this forum can do is render our opinion. It’s hard when we don’t have the privilege of seeing you, having access to all your data, or being able to have a conversation with your neurologist. I wish you the best and hope things work out for you as best they can.
 
All that we on this forum can do is render our opinion. It’s hard when we don’t have the privilege of seeing you, having access to all your data, or being able to have a conversation with your neurologist. I wish you the best and hope things work out for you as best they can.
Of course, thank you. It's just a little bit of a relief to hear back from someone else. So thank you for that. Take care and I hope the best for you, as well!
 
In seeing your EMG in isolation, nobody would even consider ALS as a diagnosis. However, your doctors who examined you must have clinical findings that support even the notion that this might be ALS.

I wish you luck figuring out what is going on. I know how frustrating this can be.
 
I'm not a doctor, like Karen who is, but there is not a single thing ALS in that EMG. Good luck working things, out, I think you are pushing your doctors to say things and then cherry picking little bits and running with them.
I hope they can find what is going on soon, it must be awful going through this long process.
 
In seeing your EMG in isolation, nobody would even consider ALS as a diagnosis. However, your doctors who examined you must have clinical findings that support even the notion that this might be ALS.

I wish you luck figuring out what is going on. I know how frustrating this can be.
Thank you!
 
I'm not a doctor, like Karen who is, but there is not a single thing ALS in that EMG. Good luck working things, out, I think you are pushing your doctors to say things and then cherry picking little bits and running with them.
I hope they can find what is going on soon, it must be awful going through this long process.
Thank you for the kind words. I agree about the EMG. It's my key source of optimism that I have a mimick instead.

Also, I regret saying I "pushed" the doctor earlier... Both neurologists said they felt it was ALS after the clinical observation and I simply asked how "how confident are you?"

Still, I appreciate what you're saying. I've tried to be as levelheaded as I can throughout all this, but dang... It's a pretty tough task! 😂

Thank you again for taking a moment to respond to a stranger on the internet!
We appreciate it very much! 😊
 
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