I am so sorry you are going through this.
My dad is seeing a neurologist. Who, based on imaging and examination, has ruled out neurological disease. I am fairly sure that would include MS (mom said they are relieved that all the bad stuff they were afraid of has been ruled out.)
Ataxia does not sound like what is going on. He does not have uncoordinated movement, but difficulty doing certain movement - it just won't move, i.e. no staggering, he just cannot make a step. It is accompanied by some anxiety. SPS also does not sound like it fits; he has reported no muscle involvement.
Thank you for all your thoughts. And I really hope you find help or your condition.
Okay, so, going through this - if he has weakness, I would need to know what this means. Does that mean he *feels* weak/lethargic like he just can't take a step or does that mean clinical weakness in that he absolutely, positively, cannot lift his leg? If so, that has to have a muscular involvement. I mean, how does he get from the kitchen to the bedroom? Because if he says he just can't take another step, but he's not bedridden or in a wheelchair currently, then he CAN physically take another step, it's just hard. And hard because he's tired? Or hard as in his leg feels like a blog of wood and to make it work is a huge effort? And if things like gait or balance is off, then you are indeed most likely looking at a neuromuscular issue. If he has NOT had a lumbar puncture then they have definitely NOT ruled out MS or other neurological issues. It is classic neuro work-up - a neurological exam, blood tests, and an LP. If a good neuro thinks he looks like MS, then they are going to start with an MRI and do a lumbar puncture for good measure to make absolutely sure, especially if these are new symptoms. My MRI was good (mostly as explained above) but because of my symptoms, they needed to be sure and an LP was necessary.
He should have had a neuro exam by the doc. It would be incredibly important to know if his reflexes were normal, hypo, or hyper in any one area and if they were symmetrical or non-symmetrical.
So, when you say he cannot make a step, do you mean he feels too weak (tired, exhausted, etc.) to take a step OR do you mean his muscle is not listening to his brain and he cannot WILL it to take a step? The anxiety is really more of a by product of not having answers than some kind of direct symptom, kwim? Or if it is not he is to weak to step and that he CAN step but it takes a LOT of effort, he needs to know if he has any spasticity or rigidity. This is not something one can feel. This is done with a neurological exam finding. For example, I feel NO rigidity. I do not FEEL spastic nor rigid. However, I am told (both by Mayo and by my university neuro) that rigidity and spasticity is exactly what makes it hard for my right leg to take a step.
So I'm glad he's seen a neuro. Is it at a teaching hospital by chance? That explanation of weakness is really key. I know that sounds so silly but it's really important to differentiate.
My first stop, early in my disease, was to a local neuro. She told me that while she understood that I "felt" like I was dropping my toes, that I had no disease. I asked for a referral (mostly because I *felt* nothing - I was just tripping. That "feel" word is just very confusing.) My exam was *very* telling though now that I know what I know. Now I know that those "brisk" reflexes were a dead on give away that I had Central Nervous System involvement.
If he has Lyme and he has affected weakness in the spinal column (affecting his ability to walk) then it is neuro borreliosis and he will have other neurological signs.
Traditional Lyme is going to attack the joints.
Lyme attacking the heart is going to have cardio symptoms.
Chronic neurologic Lyme is going to hit the brain and/or spine.
I know that you live in a current, civilized country with real medical care.
The very real problem is that currently our healthcare system does not fully understand Lyme. They ARE learning. But the curve is steep and there are those of us who are going to be caught in the gap between "this is what we currently recognize as Lyme" and "wow, a lot of people share these same symptoms and why isn't it showing up on the current Western Blot."
I think it was JUST in 2015 that Lyme Mayonii was discovered in Minnesota. We do not know all the different spriochetal kinds of Lyme right now. And unfortunately we have exactly one test and MANY, MANY, MANY people are discovering it is wholly accurate and the current treatment of Lyme that is accepted and recommended by the CDC is not sufficient. To say that because it is 2017 that we understand disease is presumptious on our part - we don't understand MANY diseases. I really didn't understand this in 2016. I didn't. When I started showing symptoms I thought this was easy peasy. I was tested for Lyme immediately because my symptoms scream Lyme.
So, from Mayo's own page: Caution: A negative result does not exclude the possibility of infection with Borrelia burgdorferi.
But, that's really NOT the problem. The REAL problem is the assumption that 28 days of antibiotics will kill a spirochetal infection of Lyme after its crossed the blood brain barrier.
So, there's this movie about Lyme that left me feeling like this whole Lyme thing was so blown out of proportion. Truly, I was thinking these people should don tinfoil hats. I think Lyme is that disease everyone is latching onto. And I don't recommend the movie because it borders on unbelievable, even given my own experiences. Unfortunately I also think it is a serious epidemic and we don't have any clue how bad this is going to be nor how to treat people who have been infected for years. Neuro-Lyme is one of the scariest diseases of our time. I honestly believe this. I don't believe I can tell you that it CAN be treated. In the Stiff Person groups there is a relatively high percentage who have tested positive for Lyme. Coincidence? Maybe. There's a fair number of Motor Neuron Disease patients testing positive too.
The Lyme thing aside, if he really hasn't had a full work-up which would include a neuro exam, blood tests for a nutritional profile (the neuro would have done this as well to exclude any kind of serious vitamin deficiency because that can cause weakness) and, dependent on the exam, a lumbar puncture then that should be completed.
If the neuro is sure he has no neurological issues but there IS something wrong with him, then a referral would be in order. Whether that's to a rheumatologist (if there is joint pain or involvement) or to some autoimmune doc then if there was no referral I'd be wondering why not? It was only my first doctor that said, essentially, meh, you're too young for this or that and I didn't see anything on the EMG. You're good. I *knew* something wasn't right. Saw the next doctor pretty quickly and it was very obvious something wasn't right. He immediately began running tests. Sometimes you get someone who is not good at what they do, are too busy, or are just pooh-poohing what a particular patient is saying. If this is a man who really was well most of his life and isn't in the habit of dreaming stuff up, then I think if that neuro says he is done with him and found nothing then you most certainly need a second opinion by someone. KWIM?