What are the copycats? Other differentials?

[gerg977]

Hello-
I'm posting on behalf of my husband.
48y/o male- OIF Combat Veteran- all the usual exposures plus a side of occupational environmental hazmat exposure.

Bilateral babinski. Unilateral hoffmans, (L) non-dominant hand, brisk (R) patella reflex, MoCa score of 22.
Initial symptoms of a headache( dull right temporal-localized) weight loss of 30lbs in 3 weeks- formerly very muscular. Phantom smells (coffee). No Complaints of muscle weakness beyond what could be explained by overall atrophy.
Tests so far - CBC, Sed, ANA, Lymes, HIV,B12, Magnesium, heavy metal toxicity (theres an occupational element), RPR, plain head CT, 1 hr sleep deprived EEG. - all normal.

Tests upcoming - neuropsychologist exam due to the MoCa score
MRI w-w/o contrast (Monday actually)
24hr EEG.

I know the answer is work through the diagnosis - an EMG hasn't been mentioned yet. Will it yield results without actual weakness?
Reading the notes he is looking for seizures, migraines, lesions that weren't seen on CT, brain mass missed on plain CT, MS, and white matter disease processes/lesions.
He has NOT mentioned ALS but I keep circling back to it in research with an FTD component (there have been some interesting personality problems I won't get into here).
It's seems like a weird kaleidoscope of symptoms that don't fit a singular differential- including ALS - can someone point me in the right direction?

I'm a former paramedic so I know enough to keep my cool - but I also have (genetic testing confirmed) classic ehlers danlos syndrome and went several decades of my life misdiagnosed so I can be suspicious of the medical community.

If you hear hoofbeats look for horses - not zebras but I dont even know if we're hearing hoofbeats right now.

Also edited to add.. left leg twitches in sleep? I'm unsure where but it's more or less constant and seems to originate in his calf - this happened during the EEG, because he fell asleep, but didn't show on the EEG besides the video of it.
I have no idea if its important.

 

[Nikki J]

The thing is the hallmark of ALS is clinical weakness so the mimics cause weakness too so the list would nor help you. The sticky read before posting does list a number of things that aren’t ALS that people who passed through here have. The neuropsych testing should be very helpful in figuring out his cognitive state and whether FTD is in play I am sorry you have to deal with these worrisome health issues but it sounds like the doctor is addressing this and working through their differential

 

[affected]

If you read this which Nikki refers to it should help you, especially as a paramedic it should make sense if you read carefully, don't cherry pick.

Important - READ BEFORE POSTING! Answers to common concerns about possible symptoms

We will try to answer reasonable questions. We are not here to argue with you. If you announce that you ”know” you have ALS when the doctors say otherwise, or you have not bothered to see a doctor, your thread will be closed. It is not our place to try to convince you you are wrong. Neither...

www.alsforums.com

Without the hallmark ALS symptoms, you shouldn't even be considering ALS.
FTD is very difficult to diagnose, but if you are suspicious, keep a behavioural diary, make notes about past behaviours that are no longer the same, and make an appointment alone to talk with his doctor.

Good luck!

 

[KimT]

Yes, an EMG will yield results without clinical weakness. Mine did. It doesn't happen often. Also, I'm surprised they didn't do the brain MRI with and without contrast.

I knew I was weak but I was only weaker compared to my normal strength which was much stronger than an average woman. The clinical weakness came about much later.

If the left leg is truly twitching that's different than jerking which is common in restless leg syndrome.

It surely doesn't sound like ALS but I sure hope you get answers soon. As you know from personal experience, chasing a diagnosis can be exhausting.

 

[gerg977]

He is working through the differential which he has said himself is "broad" in his notes- upper motor neuron, dementia, seizures, hidden mass/lesion, white matter disease are all included in his work-up.

Thank you for the answers. I read the sticky and could dismiss a few in the list - I'll dig deeper.

The UMN reflexes bother me a lot - since I saw those toes shoot up and the others make a run for it. Seeing that noted with the hoffmans and the +4 patella bugged me more -I missed the hoffman in the exam -and sort of shrugged at a overly brisk patella reflex.