Husband Told He has ALS, but they want to test for other things...

[kamsd2025]

Hello. My husband (48) has had some neurological issues since Aug/Sept. He started having fasciculations and some weakness (I don't know which started first) and saw his primary doctor in early October. We thought this was due to a medication he was on, which he has since weened off, but symptoms have only gotten worse. He was referred to PT. He started in early November and complained of issues with weakness and dexterity (using his key, tying his shoes, holding utensils, and buttoning his clothes). He saw PT twice who said his issues were nerve-related, not muscle. She referred him back to his primary to get a neurology referral.

In Dec he saw the neurologist and they did a nerve study on his right arm (where he primarily had the weakness and fasciculations because he would get this in his legs as well when laying flat). He was also sent for blood work.

Results were:
right median motor - low amplitude" and "acute neurogenic changes in C5-C7, chronic neurogenic changes in all" Looking at the EMG, which is hard to decipher because of the formatting of just text, he has 2+ on his right deltoid, 1+ on his right bicep and 3+ on his right tricep. CK was 348 and he was low on B12.

The doctor's summary from that visit said " 1. acute chronic right C5-C7 radiculopathy vs motor neuron disease (I think this is where the low amplitude comes in per my interpretation of the doctor's assessment) and 2. no evidence of upper limb myopathy, carpel tunnel syndrome, ulnar neuropathy, or large-fiber polyneuropathy." He was sent for an MRI of his neck and later they added the brain.

Between the Dec visit and now his fasciculations have spread to his left side, back and both shoulders and his left hand has weakness and dexterity issues.

On Monday we had a follow-up with his Neurologist. He said he suspects it is ALS. But he wants to do more bloodwork, full body EMG, and lumbar puncture to be sure. We are of course devastated, but hopeful this could be something else that mimics ALS. He talked extensively about ALS during the visit, life span, genetics, etc. We go back towards the end of March for the EMG and follow up and he wants to send my husband for a second opinion.

I am wondering for anyone with confirmed ALS if this seems likely to be ALS, as the doctor suspects - I know the diagnosis is a process of elimination.

Thank you for your time and I am sorry for all of you here suffering from this disease or others.

 

[Nikki J]

I am sorry that you are going through this whatever the outcome this stage of the process is excruciating

The plan seems appropriate. What were the results of the mri ?

It doesn’t seem that he is diagnosed in spite of what you put in your profile? Suspects is not it is. From what you have said it is on the table but the process of diagnosis and rule outs is such that people do get diagnosed with other things along the way. Otherwise they wouldn’t do all the tests. I hope he will be one of the lucky ones

I don’t know the credentials of this doctor but with als in the differential that second opinion should be at a university level als clinic

 

[kamsd2025]

I know it's not certain, so I posted in this forum because we aren't 100% sure. The doctor said he is pretty certain when I asked him how sure he was about it being ALS and not something else. The doctor is the Chief neurologist at a fairly large hospital. But the second opinion he recommended is at a large university hospital with an ALS clinic per their website.

The Dr said the MRI was fine. We thought he was going to tell us my husband has MS. The doctor did say he has one other patient going through similar and his mother-in-law had ALS so he has personal experience - that being said everyone with ALS is different - so I know no one can't say for certain.

 

[Nikki J]

Too bad about the mri. The als diagnostic process is one where you weirdly hope for abnormal results. Did this doctor order the bloods you mentioned? Did they include nfl and genetic testing? Those will be important going forward. Nfl isn’t diagnostic but a high result would be concerning

Let us know how it goes

 

[kamsd2025]

The only thing the MRI showed was demylenting. I am not sure about NFL. He did say we can do genetic testing. I know he ordered a heavy metal testing, lyme, various antigens. But since it's my husband's account I don't have access to his medical records to get the exact list. But I will have him check when he is home later.

 

[lgelb]

Demyelination isn't usually an ALS characteristic (in rare cases, a demyelinating neuropathy is part of the presentation), so depending on the details of the study, I could still be hopeful.

Did I understand correctly that there is leg weakness only or primarily when he lies flat? Is it in one leg or both?

 

[kamsd2025]

No leg weakness. But fasciculations in his legs which happens more when laying down. But the fasciculations in his arms, shoulders back are constant.

 

[lgelb]

Ah, that too provides some measure of hope.

 

[kamsd2025]

Hello! My husband is being tested for ALS. He has had a lot of blood work, mri. Waiting on lumbar puncture this week. Mri was normal. Blood work has all come back normal for things like GBS, heavy metals. He did have elivated CK and low B12.

He had his second EMG this week. See below.

Doctor's note said:
Interpretation:

Findings are consistent with lower motor neuron disease affecting the lower limbs and the left arm, as well as the thoracic paraspinals. There is no evidence of a demyelinating polyneuropathy or myopathy.

His NCS was all normal per doctor notes.

We are still waiting for LP to check further for MS, GBS, west nile, etc.

When I put the EMG in chatGPT it said the EMG shows reinervation, which i read means no ALS, but i may be wrong and ChatGPT might be reading the EMG wrong...

Thank you in advance. The waiting is so hard so I am always looking for as much information as i can find.

 

[swalker]

I can't help you with the medical side of things, but do have some insight into AI (ChatGPT).

I spent over 30 years in high tech and understand and have used the technologies behind many of the AI engines available.

They have their place and can provide substantial value in the right situations. However, in general, their results should not be trusted without independent human verification.

I would never trust a current generation AI tool to provide meaningful information about medical conditions. Instead, I would rely on a qualified medical professional.

Steve

 

[kamsd2025]

Thank you, it has been great fior definitions but i am cautious for other information for sure.

 

[lgelb]

I'm afraid that ChatGPT is incorrect. Reinnervation is the body's process of growing new nerve fibers from surviving motor neurons to try to make up for those nerve cells that have died. But as more motor neurons die, there are not enough nerve cells to grow connections that can help the nerves move the muscles.

Was it the ALS clinic, that did this second EMG?

Unfortunately, the report makes it clear that ALS is the leading possible diagnosis at this time.

 

[kamsd2025]

It wasn't, but we have a referral to one and are justing waiting to make an appointment. I just keep hoping something else comes back as more likely. Thank you for your input.

 

[kamsd2025]

I don't know if this is the right place to ask. My husband was told he likely has ALS, had a very poor EMG (showing "findings are consistent with lower motor neuron disease"), and is just waiting on a lumbar puncture before to rule out any mimics (blood tests were all negative). I made a post about this, not sure if I should have added this to the post I already have...

I am wondering about cognitive issues with ALS. He seems to have problems processing information and responding. Is this normal? He went to OT this week and I was reading the notes and the OT mentioned "patient seems to take a long time answering questions" (something I have noticed as well as my brother-in-law). I asked my husband about it and he said the OT asked about it and he told her "It annoys my wife" so she put in the report that it seems like "his baseline". It seems worse if we are speaking via the phone. For example. I will say something like "I am leaving work, what do you want for dinner tonight" and he'll respond "Okay, see you soon" and I'll say "Wait, do you want me to pick up something on my way home?" to which he'll say "okay, so you're heading home?". He had a hearing test and his hearing is fine.

He is also being a little forgetful or ignoring things. He was supposed to have lunch with someone yesterday and didn't show. His friend knows about the medical stuff so his wife texted me to ask if everything was okay - they were very understanding. They said they know he, obviously, has a lot on his mind with the health stuff.

 

[Nikki J]

It is fine to ask here and important to tell the clinic when you get there. Do you have an appointment yet?

Unfortunately there are issues associated with ALS. About 50% of pals will have some cognitive and or behavioral issues. A much smaller number will have frontal temporal dementia ( 15% in overall als ,higher in some genetic variants mine is 35%)

Ftd is classically an executive function issue not memory. There can be word finding issues though

Certainly stress and worry can cause the things you mention but in the setting of likely ALS it needs assessment. There are brief screening that can be done in the clinic as well as formal testing that would be a separate appointment

Has he had breathing checked? It is unlikely to be the issue but retained co2 can cause confusion too

I am very sorry you have this to worry about too