Father in law suspicious case, or is it?

[andrewf]

Good morning,

I'm looking for some guidance here. My father-in-law "FIL" (who is happy to get any info he can from a resource like this) has been having mobility issues lately. I need to provide the health history here. 77YO white male, normal weight, 5'10 or so. Avid walker, as in...miles per day. Gradually slowing down past 5 years or so as his toes became worse and worse. He had developed severely deformed toes where they were curved up and over the others. honestly it looked like the second toe was jumping over the big toe trying to make a getaway. He would buy bigger and bigger shoes to be comfortable, but got slower and slower.

Fast forward to this year, in Spring, when he could visit his podiatrist surgeon and schedule surgery for repair, first on his left foot. The podiatrist noticed weakness, a foot-drop, and referred him to a neurologist. Neurologist did full exam....there was no spasticity or hyperreflexivity, in fact, he had lost some reflexes in the foot. Neuro did a MRI of brain, C-spine, and T-spine. Also did a EMG which I would classify as "messy". Impression after EMG was anterior horn cell disease. So, ALS or PMA. As far as upper limbs, no issues, at all. Plays guitar, etc. no neuro issues with contralateral foot.

Something didnt sit right with me about that. FIL was able to walk, do stairs, get around, and actually was able to dorsiflex his foot a bit. Even the neuro gave him a 3/5 on that, I though it was a generous score. We had a videoconference with the neurologist. I basically said "he has weakness but has not lost functionality, he has no UMN signs....oh, and by the way, did you do a L-spine MRI?" Neuro said "uh no, we didnt" and I said "Isnt that where the nerve roots that run the foot come from? Couldn't impingement there do this?" He ordered a L-spine MRI and said that the results from that showed findings that could cause this weakness, and that even if FIL had MND, his presentation was such that he would need his leg to walk on for quite some time anyway and should get the toes fixed.

So FIL got the toes fixed, in June. Foot up for weeks, in a hard cast then soft cast, then back to trying to walk. Now here's the thing. He has not gotten better with walking, he's gotten worse. The foot-drop is a persistent problem, to the point that even with a special brace they fit him with, he is very, very unconfident about this ability to walk places and do things. He says he is doing PT exercises, his PT person says he sees improvement, but he's just not improving.

What we've got here is a clinically-defined neurological deficit, but at the same time as a recovery from a very major surgery correcting his toes. So the overlap complicates figuring out what is going on. I think it leans more toward PMA if it is MND at all, though I'm aware there are forms of ALS that are more LMN-dominant. Its quite possible that at his age there has been atrophy from non-use, combined with nerve impingement, and his dwindling his ability to walk. But what we really need now is more evaluation of him, and neurology seems not to be too interested in seeing him soon. I assume a a followup EMG will tell us if he has 'progressed' or if he is just staying stable neurologically? Then maybe its a confidence issue or just a factor of getting old. 77 ain't 65 after all. I can post his EMG data if anyone cares to look, though in isolation that isn't definitive I realize. Any suggestions on the best diagnostic course to follow?

 

[affected]

Posting the EMG would be useful for comments. Thanks for caring about him.

 

[andrewf]

Here is his EMG. When grandpa texts screenshots of his ipad, we have to use our mosaic skills....

 

[Nikki J]

There are some things in his arm too. I would make an appointment at Hopkins ALS clinic for evaluation. 77 he may be but he deserves a diagnostic work up just like anyone else

 

[affected]

Great mosaic work!
I agree, he should be evaluated by a neuromuscular specialist.
We are not saying he has ALS, just saying he should be evaluated by an ALS specialist so you have a clear diagnosis to work from.

 

[andrewf]

So, he had a meeting with his neurologist again before Christmas. I joined by Facetime. Watching his exam and listening to the questions asked the Neuro was thinking the same things I had been. His impression is that it IS a nerve impingement. FIL has marked atrophy in the calf muscle on that side. No UMN symptoms at all though.
I explicitly asked "could this be MND?" and the Neuro said his findings are not consistent with MND right now, and if it is... we would be another year or two even knowing that anyway. Single limb and no progression being the type. Frankly I've stopped being concerned with it. He's getting around decently and is going to do some more PT to hopefully get that nerve to restore. We will see.

 

[andrewf]

Back with a few developments in my FIL's case and hoping for a bit of advice. Ive been asked to help as much as I can to help get to the bottom of this. He is taking PT twice per week, and being made to work on balancing while standing, without using a cane or walking frame.
There's still this dissonance between his symptoms. He's not making great progress in PT, in fact I've heard remarks about his other leg having issues ("muh knee went out"). I'll see him tomorrow and examine both his legs for LMN function, see if his right foot is losing anything. But, he can still climb stairs, move around, etc. He is slow doing it. He admits he is scared of falling down. The last 5 years he has been walking slower....and slower....and slower. Since this whole situation started just under a year ago, before foot surgery, his first neurologist retired and second one left the HMO. He is with Kaiser under Medicare Advantage. He has an appointment with a new neurologist early next month.

I need to know what questions to ask, like:
1) We want another EMG, overseen by someone with enough skill to resolve if this is a case of MND (?)
2) If it is a slow-progressing MND, is PT still a waste of time? Or will it help him adapt to the extent possible? Its really about quality of life. maybe he needs to keep doing PT but get a mobility scooter to extend his range and walk where he can. he is not overweight.
3) Should we get him a workup done at a specific clinic, and if so, which one. We are near Baltimore/DC area.
4) Can we even answer if it is MND now? It it possible he will need to continue to be monitored? (He has no UMN signs, so it would be leaning toward PMA, and wow is his left ankle atrophied at this point.)
5) Should we get additional lumber MRIs done to resolve if nerve impingement is in fact to blame?
6) How do we know when driving may become an issue? I'm mostly concerned with getting a foot on the brake pedal in a timely fashion. Brakes being pretty important... We dont need to have a crash occur and injure or kill some innocent other person before a change is needed. How do I get into that conversation with his doctor?

 

[affected]

I think you need to see a neuromuscular specialist and let them decide.
Are you a doctor? You are saying you the one to get to the bottom of this and doing clinical examinations on him?

If not, then I'm not sure you should be the detective and then going to a new doctor and instructing them on what is to be done.

I do understand you are concerned, and agree that he needs to be safe from falling, so a wheelie walker and/or mobility scooter might really help him in the meantime. Is he going to see this new neuro at Hoskins?

 

[andrewf]

Hello again. I think its helpful for people who pose questions on this particular type of thread to come back and update it with an outcome, which I will do here. And the determination is, after another neurological exam and testing....

"Demyelinating Polyneuropathy"

It was really helpful to attend his neurological exam and also another NCT and EMG that was done by the doctor. We got to ask a lot of questions. He has clinical weakness in his hands and both legs, not just the bad one. Observing the EMG, she was actually able to do the test and adapt it as she saw results, and provided a running commentary...."See that, that's classic for neuropathy" or "see those, we'd see a ton more of those if it was a Motor Neuron Disease like ALS". Also, "see that there? That looks like he has some radiculopathy in his c-spine"

FIL is getting worse and worse at walking and his muscles are really thinning out in his calves. I bet he's going to need an electric scooter soon. We are all here to support him and his quality of life. This prompted the question from me "What the heck is the practical short term difference if it is DP and not ALS....if he loses his ability to walk anyway?!" She really didnt answer, only said that DP doesn't ultimately affect the breathing muscles like ALS does. But from my observation and watching his gradual decline, in the short term there is really no difference as to how QOL can decline.

But there is more to come. He is getting a genetic test to see if it is gene-caused. If so, then he's done and its manage-as-best-he-can-from-here-on-out. If it is not, they will do a lumbar puncture, sample some spinal fluid, and see if it is immunomodulated and can be halted (or somewhat reversed?) by immunosuppressant treatment. Which of course has its own truckload of potential unintended consequences.

I'll post back here when I have something more definitive in terms of category for the DP, if a moderator wants to move this to a more appropriate subforum that would be welcomed. The neurologist was explicity to say "thanks to media coverage, everyone thinks they have ALS, and nearly nobody ever does." Also "you are right to have been concerned for it here, but he has classic demyelinating polyneuropathy"

 

[Nikki J]

Thank you for circling back. This is as you say a serious and debiltatingj disease but being able to talk eat and breathe are all great gifts that are not given to PALS. I am happy he has great family to support him