ALS concern

[Cmh89]

Hello all. I have read through the rules and ALS FAQ sections and they were helpful (they led me to request an appointment with my PCP).

I am a 33 year old female and for the last 6 months, I have had a resting tremor/twitching in my left hand and forearm. In the last 2 months, constant twitching began to affect my lips, tongue, and under my chin. I have started to notice weakness of my left hand - I’ve been dropping things frequently, have trouble opening bottles, and just today had significant difficulty peeling an orange. I do not have any pain or numbness.

I saw my PCP and she said my “resting tongue fasciculations were extremely concerning,” as was my perceived weakness, and brisk reflexes in the left lower extremity (I hadn’t noticed any lower extremity issue myself). I am not generally an anxious person, but my doctor seemed alarmed so that made me a bit nervous! My labs (electrolytes, thyroid, and even copper testing) have all come back normal. She has referred me to neurology, but has said it will likely take months to be seen.

If you have read this far, thank you! I’m wondering if 1. You’ve seen ALS present like this and 2. Is there anything specific I should ask about or expect from my first neurology appointment? I appreciate your insight and expertise!

 

[affected]

Hi, please use basic formatting like paragraphs to post here so we can read clearly.
The hallmark, as you know, is clinical weakness.
Hopefully you can be seen sooner than months, but the good news is that if it is a long wait then you probably don't have truly alarming issues. Did your PCP actually say - I think you have ALS so am referring you?
If not, remember there are a lot of things that could cause what is happening besides ALS.
If you develop new symptoms, please return to your PCP as if there is any true progression they may be able to speed things up.
We can't really tell by text if there is or not.

I do wish you the best, but suggest you don't jump to the worst conclusion and a terminal illness this early.

 

[Cmh89]

Thanks very much for your response affected! My apologies for the formatting. Hopefully this is clearer.

My PCP did not say she felt I had ALS (or any other diagnosis). She said she was very concerned about the symptoms and exam, but that she didn’t know enough about neurological issues and would refer me ASAP to a neurologist (however expected it to take several months even with an expedited referral).

I am obviously most worried about the weakness. But you are right! Time will tell and it could be many other things. I will repeat that to myself as I wait for my appointment. Is it alright to come back here and post when I have my Neuro eval completed?

 

[Nikki J]

We absolutely want people to return after they get an evaluation and diagnosis. We hope for good news of course and seeing the outcome helps everyone.

your main question for the neurologist should be what is wrong with me. Present your symptom - a concise timeline and specific examples of what you can’t do are very helpful

in the meantime enjoy each day. As you know worrying never helps anything

 

[affected]

Yes please do return then and try not to use the internet now to second guess what is going on.
If you are worried, take notes about your specific issues to prepare for the appointment so you make the most of it.
Spend the rest of your time working on sleep, posture, gentle exercise, hydration, nutrition and even meditation.

 

[Cmh89]

Hello! Just writing a quick update.

I was able to have a virtual visit with a neurologist today. While I know that’s not ideal as she couldn’t do a physical exam, she is ordering more labwork, an MRI (without contrast, as I am breastfeeding), and an EMG.

The fasciculations in my face and hand remain constant, and I now have them frequently in my shoulders and hamstrings. The weakness in my left hand feels about the same though.

The neurologist said she’s casting a wide net ordering all these tests, but she thinks ultimately I will need to see a neuromuscular specialist. That of course makes me nervous, but I’m trying to take things one step at a time.

 

[affected]

thanks for the update. casting a wide net after a virtual visit is probably about all they can do, especially without an exam.
but don't let that make you think the worst - each of these tests are used to diagnose a bit range of disease and injury processes.
Let us know the results once they are done for sure.
Look after that baby, this time is so precious.

 

[Cmh89]

Hello all. I had my MRI of the brain 2 weeks ago, and that was normal.

I had my EMG/NCS this morning and that was decidedly abnormal in all tested extremities (bilateral upper and my right lower). The neurologist performing it was extremely surprised by the results…he said it wasn’t diagnostic of ALS today but it showed many of the hallmarks and that we would retest in a few months to confirm progression. I had abnormal reflexes and atrophy of my left hand. I do not have the official results in my chart yet, but I will post once I do.

Not sure what else I’m looking for here. I guess I was hoping for at least alternative diagnoses, but when I asked he didn’t offer any.

I’m 33. I have 3 beautiful kids that don’t deserve this. I just feel sick.

 

[lgelb]

Very sorry to hear, but sounds like the diagnosis is not definitive as yet. To answer your question, there are numerous ALS mimics, but not sure that pasting a list will help. It will be useful to see your EMG when you get it.

Meanwhile, my best advice is to live your life as best you can, enjoy your kids and everything else -- you can't change whatever the final answer is, but you can control how you deal with the possibility.

Best,
Laurie

 

[Cmh89]

Hello again. I’ve gotten the report this morning…definitely abnormal, but his written impression is not what he verbalized to me yesterday.

Full disclosure, I am a clinician. I have in depth knowledge in several specialties. Neurophysiology is not among them (know your limits, right?). I am a little overwhelmed and confused given the discussion I had yesterday, so any input here would be appreciated.

1. I assume ALS is not “ruled out”, but there is still at least one diagnosis on the table pending an MRI of the spine?

2. I was extremely cold during the exam (my hands and feet were purple). They were not really able to warm me up, and I am wondering if this could affect the EMG specifically? I did ask! They said “eh”

Thanks so much in advance. I appreciate your kind words and thoughtful responses this far.

 

[Cmh89]

I know this is technical stuff…and maybe people don’t want to give me bad news…but any input would be welcome. I didn’t know such despair was even possible, I’m barely functioning.

 

[rmt]

I don't know anything about EMG interpretation, but I do notice that the Impression section doesn't mention anything about motor neuron disease or ALS being in the differential. I'm surprised the doctor would tell you in person that the EMG had the "hallmarks" of ALS but then not mention that in the written report.

Can you message doctor through your patient portal to clarify in writing what he said in person about his concerns? Then you will have in writing what he is thinking. And you can clarify (in writing) what you remember he said and he can clarify what he is actually thinking. Then you will have a written record of everything.

 

[lgelb]

Multi-level radiculopathy vs. a more global process seems to be what they are looking at. The spine MRI is certainly important. I would also be interested in possible B-vitamin deficiency, iron levels, etc. given that you are breastfeeding -- not saying there is no damage, but nutrition can sometimes mediate it. Since not all nutritional deficiencies show out in bloods, it's not of bounds to consider judicious empiric supplementation.

Cold can have a bearing on EMG findings, but it's doubtful to the extent that yours would be normal if you had been warmer.

 

[Cmh89]

Thank you rmt and Igelb. I apologize if I came across as hysterical, but if I’m being honest I sort of was at the time. The ordering neurologist wants to have a virtual visit to discuss results. I’m not sure how common multilevel radiculopathy is in a 33 year old with no sensory symptoms…maybe no more uncommon than ALS would be? In the meantime I guess I’ll just pray for a seriously f*d up spine and keep taking my vitamins.

 

[rmt]

I'm glad to are going to have a follow up with your neurologist to go over the findings. Medical appointments can be so overwhelming! Some doctors are very good communicators... others are NOT!

I recommend writing down your questions beforehand so you don't forget anything. For each appointment, I used to make a bullet point list of any symptoms I wanted to make sure to mention and then a bullet list of all of our questions. It really helped keep me on track!

Hopefully the followup will provide some clarity on what the possible issues are and what the next steps are in diagnosis and treatment. You deserve to have a plan going forward, whatever the medical issue turns out to be!