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davegud

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Hello,

In my previous posts I have indicated that I was tentatively diagnosed with PNH based on symptoms and repetitive nerve stimulation which produced after discharges and cramp potentials. My April Neuromuscular appointment was delayed, since my doctor wants to try out some new test on me that is experimental, but yet to be approved by the hospital.

I have very minor atrophy in my thenar muscles, but have not had any clinical weakness. I had multiple signs of chronic reinnervation, but no signs of active dennervation.

I'm a math professor, so I understand probability and statistics very well, so please don't feel the need to reassure me based on my age (37), etc. I know the odds are extremely low even with cramps and fasciculations. I am not "convinced" that I have or will have ALS. I guess that even the tiny likelihood is enough to raise my anxiety.

The new symptom in question was discovered a few days ago & here's some background. I have 3 small children & when they get a boo-boo or when I want to make them laugh I sometimes make a funny face. I roll my bottom lip over, so that it is inside-out (like I have a big fat bottom lip). Sometimes I'll stick my tongue out like I have a big fat top lip. this is usually good for a laugh out of them. A few days ago, I attempted to make the funny face & was unable to roll my bottom lip over. I have been making this particular funny face since I was very young, so it is a very familiar feeling to make it. I can't remember the last time I made the face, but it was at least a few months, but maybe longer. No matter how much force I exert, the lip will not roll over like it used to on its own. I have to push the lip over with my hand to get it to do what I used to be able to do with just the muscles of my lower lip. My initial thought was, "Wow this is really weird...why can't I make the funny face?" Having done a fair amount of googling, my next thought was, "Crap, is this related to all the other stuff?" I also realized in hindsight that I have had a relatively persistent, tiny little twitch going under my bottom lip for a few months. I have been working on ignoring all my twitches, so I hadn't thought much of it. I'm wondering if this silly face is possibly my first indication of actual weakness. My initial thought was try a bunch of other expressions to see if they "feel" or look different, but now that I suspect an issue I know that everything I do will feel weird... But I can definitely say that not being able to make this face is something new and different from 6 months ago+/- a few months.

Let me qualify that I have not even remotely considered bulbar ALS as a concern. All of my symptoms have been in my arms and legs with some fascics in my lower back. I have not noticed any speech / tongue issues at all (My father has always had a slur in his voice as do I on occasion).

My neurologist told me to tell him if this changes, but still wants to wait until his experimental testing is approved to see me again (probably June). By change, I assume that if this was something sinister it would progress into further weakness.

Based on anybody's experience, should weakness in my lower lip be concerning? Should I push for a sooner appointment? I'm slightly concerned that he wants me to wait because I tested positive for PNH & this further testing is part of his research. I'm very focused on not overreacting. I have a vacation planned to NC OBX next week and I don't want to be a damper on the festivities...

trfogey: Thanks in advance for your eagerly anticipated dose of reality!

Thank you for your time and feedback. It is appreciated.
 
What is PNH. The only illness I know with that abbreviation is not neurological? Do you mean peripheral nerve disease?
 
Peripheral nerve hyperexcitability of undetermined cause. He does not consider this a final diagnosis, only a work in progress.
 
What is PNH. The only illness I know with that abbreviation is not neurological? Do you mean peripheral nerve disease?

Peripheral Nerve Hyper-excitability. Some neuros here in the States use that term, like they do BFS, to describe nerve conditions of unknown origin that cause things like tics, twitches, unusual sensations, etc.

trfogey: Thanks in advance for your eagerly anticipated dose of reality!

davegud,

The only dose of reality I have for you today is that I think that you need a new neurologist. Sounds to me like your current one is more concerned about his academic reputation than he is about his patients. Why delay this appointment when he could just as easily done his experimental test on you six months or a year from now? If you are that rare of a subject that his research would be compromised without your test results, he ought to be paying you for the privilege of testing you, rather than charging it to you as part of a routine followup.

That having been said, your lip "problem" doesn't sound like any kind of ALS symptom in the face that I've ever heard. Usually, the first symptoms of ALS affecting the lips are an inability to purse or pucker the lips -- trouble drinking through a straw or whistling -- as opposed to trouble stretching them, as you describe. When I try to replicate the action you describe, most of the working (contracting) muscles appear to be in the neck, rather than the face.

Have you had any dental work done lately?
 
No dental work. I know what you mean about the neck muscles. My wife can't even roll her lip over without using her hand, so it is a maneuver that apparently not all people can even do. This feels like a real silly thing, so I'm trying not to overreact. But...it is without doubt a definite new thing that I have never experienced before. I make this face with such regularity that the inability to make it is very noticeable. I also don't think it's a medical anxiety thing, because I was definitely not looking for signs of bulbar problems. On the contrary, I had convinced myself that if by some extreme stretch of misfortune I did actually develop MND, it would surely be the slowly progressing LMN dominant variation! I have to wonder how many actual ALS patients are frequent lower lip roller-overer face makers that would happen to try to make this face at the point of progression that this was their only noticeable weakness? This kind of thinking drives me crazy...I may look for a new neuro, but may also wait until after the vacation, which puts me close to June anyways. My doctor is co-author of many prominent studies, so I feel relatively comfortable with him.
 
What experimental testing? I was under the impression that there wasn't much of anything that could 'confirm' ALS--just lots of things to rule it out.

What does he want to do that is so different that it needs permission from the hospital to do? It it something that would put you at risk somehow?

I'm with trfogey--I'd see another neuiro with all your previous results. How long ago were your EMG/NCV? I've got major thenar atrophy -- but it occurred months after the onset of weakness.

Have they ruled out the obvious suspects of CTS and ulnar damage? Did all your other symptoms happen at the same time? I'd think there would be some denervation with reinnervation, as I'm pretty sure the reinnervation is the body attempting to get a new connection established.

Does your doctor tell you what he thinks is wrong with you? From my understanding, PNH can be caused by auto-immune disorders, to. Has the cause been determined?

PNH can actually be serious--it's seen in paraneoplastic syndromes, too. Seems to be a bit more than BFS, which has basically normal EMGs. PNH does not, correct?
 
davegud,

Don't get me wrong -- I'm not suggesting that your recent inability to roll your lower lip is some manifestation of health anxiety. On the contrary, I assume it's real and look for alternative explanations that are more likely. Novocaine injections sometimes go astray during dental work, along with other "mechanical" accidents that could cause temporary damage to a nerve which could, in turn, lead to muscle dysfunction in a small muscle in your chin or jaw. Not enough damage to be blazingly obvious except under a specific set of circumstances.

What I do think is a manifestation of health anxiety is your seeming inability to let go of ALS as a possible cause for your problems. You're either 1) ignoring a good portion of the accurate information that you find about ALS/MND, or 2) reading a lot of really inaccurate information about ALS/MND, or 3) not reading about ALS/MND at all. For example, this statement

On the contrary, I had convinced myself that if by some extreme stretch of misfortune I did actually develop MND, it would surely be the slowly progressing LMN dominant variation!

makes no sense in light of what you already know -- no LMN problems showing up on your EMG.

But it is a rationalization for hanging on to ALS as a possibility that takes into account the known facts about your condition -- no real progression since your symptoms began about 10 months ago.

  • Your footdrop hasn't gotten any worse and you haven't noted further weakening of either leg.
  • The atrophy in your hands hasn't progressed enough for you to note since January, and hasn't moved into your arms.
  • Until now, you haven't experienced anything that could be construed as clinical weakness that can be associated with fasciculations/twitching prior to the weakness.
  • And a well-respected neuromuscular specialist who is an active researcher in the field has told you that it is "unlikely" that you have MND and has asked you to delay your followup appointment for two months so he can test you with regard to a completely different, though peripherally related condition which he has diagnosed you with.

No offense intended, davegud, but just how brightly does the "No MND" neon sign have to be blinking before it catches your eye?

Go on your Outer Banks vacation and relax and soak up some sun. Catch a few blues or trout for me, if they are running.
 
The testing he will do is currently being done in japan and europe, but not the us. It is supposedly less intrusive than emg, but slightly more sensitive. According to him it is only slightly more informative than emg in that it indicates the source of the hyperexcitability. The atrophy is not explained by ulnar entrapment. I tested negative for potassium channel antibody.

Trfogey, I am "holding onto" the als possibility as long as it remains a possibility, however unlikely. Some days, in fact most days, it is pretty far back in my mind. Other days it is right in the forefront. Since my last post I have specifically asked my doctor about MND. He has indicated that any time cramps accompany fascics there is a small chance for MND to develop. That is why his diagnosis is not final. I agree that I should not spend a lot of time thinking about this because the emphasis is on"small probability". I usually go about my business until something new spooks me. Thanks for continuing to emphasize the positive side of the high probability I don't have MND. That's where I'm trying to be when I can!
 
The testing he will do is currently being done in japan and europe, but not the us. It is supposedly less intrusive than emg, but slightly more sensitive. According to him it is only slightly more informative than emg in that it indicates the source of the hyperexcitability. The atrophy is not explained by ulnar entrapment. I tested negative for potassium channel antibody.

And they've done checks for auto-immune disorders? That and paraneoplastic syndromes seem to be pretty common in one study I read--and myesthenia gravis

In any rate--hopefully they will figure you out.

They're sure it's not simple BFS?
 
Since my last post I have specifically asked my doctor about MND. He has indicated that any time cramps accompany fascics there is a small chance for MND to develop. That is why his diagnosis is not final.

Did he actually put it this way -- that MND can develop out of a cramp-fasciculation syndrome? If so, I'd like to see the studies that have been done that support that hypothesis. The way you've stated it, you imply that he is indicating that the fasciculations and cramps exist independently of the MND. That would be a new development on the MND research front.

Or did he say that a small number of people who have both cramps and fasciculations are subsequently diagnosed with ALS/MND, implying that a larger number (an unspecified majority, perhaps large?) of those who have both aren't ever diagnosed with ALS/MND? There is a big difference in the implication of that statement -- and its equivalents, such as "If you have both cramps and fasciculations, there is a small chance that you may actually have MND" -- and the implication from the previous paragraph.

Which way does the causality arrow point, davegud?

I agree that I should not spend a lot of time thinking about this because the emphasis is on"small probability". I usually go about my business until something new spooks me. Thanks for continuing to emphasize the positive side of the high probability I don't have MND. That's where I'm trying to be when I can!

I'm only emphasizing what my doctors have told me are the important things to watch. ALS is progressive and that progression tends to be fast, rather than slow. My progression rate puts me in the slowest 10 to 15 percent of PALS when it comes to progression, but I can't point out an eight-month period in the past four and a half years where I've not had some deterioration in my condition, whether it is weakness, reflex changes, physically measurable muscle atrophy, or simply paralysis.

I'm not telling you anything you don't already know. You simply are choosing to view it from what appears to be a contrived and rigid perspective -- forcing everyone to prove the negative, rather than your demanding the proof of the affirmative.

You can't change the facts of your condition, but you do control how you view it and, most importantly, how you react to it both now and as it changes (or doesn't) in the future. You've talked yourself into this and you'll have to talk yourself out of it. I'm just showing you that it's not as large a leap of faith as you think.
 
Trfogey,
I appreciate all the work that you do on this site to keep people from unnecessary worry and anxiety. I do know exactly what you mean about the emphasis being on the vast majority of people who never develop MND. I have been doing mostly good with ignoring my constant cramps and fascics. The cramps are a lot harder to ignore. As notme pointed out there are some small cell lung cancer concerns, thymoma concerns, and then a big chunk of unexplained PNH. I will continue to listen to my dr. About the very small chances of a bad problem. Thanks for being a glass mostly full person. Your comments are appreciated.
 
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