I was reassured until i spoke to Genetic Counselor

[hollingusa]

Hi everyone. I was hoping to never be back here, especially after yesterday. Quick summary is I began with body wide twitching in Sep 2022. Months later I began weird sensation/hypertrophy in my right calf followed by slight(but not clinical weakness) in the whole right leg up to glute.

7 months ago my left arm, shoulder and scapular began twitching and following was pain, and slight seakness. Also not clinical.

I had a clean emg in December on right leg and left arm besides JUST increased amp in my right calf.

I've had 3 normal clinicals since the beginninc of this year including one yesterday.

Yesterday I had clean emg on full right leg, left arm, lower and upper paraspinals.(this is even with severe atrophy of lower paraspinals of unknown reason since 2018)

I was feeling good and put als behind me until I spoke to genetic counselor today who told me these emgs are subjective and don't necessarily rule out als. I'm very confused based on what I've seen here, and heard from others.

What are your thoughts on this? Would clean clinical and clean emg(not even fasc) rule out als for me? She brought me right back to a dark place

 

[Nikki J]

I don’t know why you were talking to the genetic counselor with negative emg and exam Did I miss family history?

The genetic counselor even if they specialize in ALS is not a neurologist. The diagnosis of als is based on a specific pattern of findings on exam and a certain pattern of findings on emg. Since you have neither after five years how can ALS not be ruled out ? Could you get it someday? Sure. So could the counselor and ever person you pass on the street

Also subjective is what you feel say objective is a test or exam finding so by definition emgs and clinical exams and objective findings. That statement was patently false and if they used those actual terms I would question their background. Did you paraphrase?

 

[hollingusa]

I did not paraphrase. She said it's subjective because each operator does it differently.

The genetic counselor was actually for my blood disorder but after reading my ongoing symptoms of twitching, confirmed atrophy, and weakness(but not clinical) she became more concerned with that and continued to use degenerative neuromuscular disorder, on top of her comments about als not being ruled out. I was doing so well. She really sucked the wind out of me

 

[Nikki J]

So she is not an ALS specialist counselor and not at all qualified to make such a comment. Ask your neurologist MD and see what they say

 

[hollingusa]

Ccorrect she's not. She's a rare disease specialist. She said people are sent to her when the doctors isn't figure out what's going on, which does happen to be my case. So although I'm not sure what's happening with me, I was sure it wasn't als. I have a follow up with a new neuro in July and will talk to him of course. Thanks for reassurance

 

[lgelb]

She means, people are sent to her when a genetic disorder is suspected, not that she is a sporadic rare disease or diagnostic expert overall (no one is equally, since they appear across organ systems, etc. but an internist with a diagnostic subspecialty would be the closest).

A clean EMG from a certified examiner is not so subjective that it keeps ALS on the table past a reasonable ruleout based on the clinical picture + clean EMG. For a physician who performed the EMG, you can verify certification here.

 

[hollingusa]

Great, should I be worried given the technician who did the emg couldn't be verified there? This is him Dr. James Fesko, MD – Montrose, NY | Physical Medicine/Rehab on Doximity

 

[Nikki J]

No. Not every doctor who is qualified to do emgs bothers to do that certification. I suspect too it is so,ething younger doctors are more likely to do Testing started in 2003. It probably hadn’t taken off yet when your doctor graduated a few years later. He isn’t a technician he is a board certified MD physiatrist. It is insulting to say technician.

I just put in a doctor I know who is an experienced clinic director who is also a clinical researcher and is considered an expert in EMGs They weren’t there

 

[hollingusa]

Oh okay. That's good. Maybe don't show your tool anymore because it may makes other anxious to see they aren't certified, but I understand.

It's been almost 2 years since twitching began. I come some mild confirmed atrophy but still have clean clinicals, reflexes, etc, and a 100% normal emg. I'm putting als behind me although I'm nearly sure there IS something happening. Thanks for your time. Vert selfless of you to spend your time here helping others

 

[lgelb]

Sorry for the confusion re certification and I should have noted everything Nikki did. I looked at some other resources as well; your physiatrist appears well qualified.

I'm glad to hear you can put ALS behind you. But at the same time, I encourage you to report your experience with the genetic counselor's misleading assessment to the genetics clinic director, because not everyone is as level-headed and obviously those statements could cause significant distress.

 

[hollingusa]

Hello again. I know this is prob a dumb question but you guys are such a help. My symptoms continue to get worse. I DO have weakness but it is not clinical. The symptoms are left arm and shoulder, and right leg. All of this began with twitching Aug of 22, and then all of these symptoms slowly got worse. This emg is from 2 weeks ago. With an emg like this nearly 2 years after what I call onset, can I put als to rest?? I just felt you'd have better input seeing the actual emg results

 

[hollingusa]

 

[Nikki J]

That is a 100% normal emg and you have no clinical weakness and also normal clinical exams. Yes ALS is ruled out. Good luck. I hope you feel better soon

 

[hollingusa]

Hi again. Today I received results of my genetic testing. There was a variant/mutation in the SETX gene. As I shouldn't have, I googled it, to find it's been related to JALS. I'm 37 now but have had maybe even slight symptoms up to 6-7 years ago. If it wasn't for a clean emg, I'd be 100% convinced. Whay do you make of these gene variant? Have you seen it before here?

 

[Nikki J]

First having a mutation does not diagnose ALS
I think but am not sure there may be different variants with different presentations. I know for sure it can have different manifestations including Charcot Marie Tooth and cerebellar ataxia. The als connection is so called ALS 4. It has juvenile to young adult onset so even 30 would be old for it. ALS 4 is characterized by slow progression and a normal lifespan. I know some consider it is not really ALS at all. I do not know its penetrance either. No ALS mutation is fully penetrant

The ALS 4 mutation is autosomal dominant. How are your parents?

I would definitely take this result to an ALS specialist counselor. The major als clinics should have them. I know Columbia does