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AndyDJX

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Hey folks.

I think I'm posting out of pure confusion and frustration because I have no idea where else to post. Where do you go when your doctors don't know what's wrong with you? When you don't fit any neat or obvious category of diagnosis, but you keep getting worse? I shouldn't post here, because I really don't think I have ALS...but at the same time I know this specific section of the boards ("Do I Have ALS?" not the general ALS section) is filled with people who are in a similar limbo.

One doctor told me I had "clear atrophy," but another told me that it wasn't "real atrophy" because it didn't show up on an EMG. So I'm missing a huge chunk of my thumb/thenar muscle, and I'm losing more. Where is it going? What the !@#!@# is causing it? It's so weird to have a doctor tell me that even though my once full and healthy muscle twitched like crazy and then went flat, it's not "real" because it didn't show up on a test. I understand why she said that, but the fact that I don't have muscle where I once did is a very real problem if you ask me.

I wouldn't be posting here if I wasn't getting worse. I got over the anxiety, I put a lot of this stuff out of my mind, really. Mentally, I've been doing great. It's easy to ignore the progression sometimes because it's sloooowwwww. But it's progression nonetheless.

The thing that's been bothering me lately is my face. I can't make or hold certain expressions without my muscles very clearly shaking. At first it was just my eyebrows shaking when I would push them down...then I couldn't hold my nose up without it shaking...then I couldn't smile for more than a few seconds without my lips and cheeks shaking. And now my eyelids "stick" when I move them up. I don't have a constantly drooping eyelid, but when I look up, my eyelid will take a moment to catch up with my eye.

Exertional weakness is a big issue. I can carry groceries and look like there's no problem (other than some shaking muscles in my arm) but after I'm done my arms become abnormally weak.

Other areas beyond my thumb have lost muscle.

And of course, after five years, my muscles still twitch every damn day. I still get fasciculations in my tongue, mouth, eyes, stomach, back, hand, legs, feet-- you name it. I miss the days when it was "only" twitching.

Some of my symptoms sound like myasthenia gravis, but I've read that MG doesn't cause fasciculations. There are other aspects of MG that my symptoms aren't consistent with. My symptoms aren't consistent with anything specific I've come across, which is a blessing in many ways, but it also makes figuring out what's wrong very difficult.

My EMGs have shown fasciculations and slowed nerve conduction, but that's it.

I just don't know where to go or what to do. I've been in this predicament before and it caused me stress and anxiety, so I stopped. Honestly, a lot of the stress and anxiety went away, I just wish my symptoms left too. I don't want to re-introduce the stress by running around to different doctors offices, but I also don't want to just ignore that something is clearly wrong with my health.

And I don't know who to talk to. So I'm here.
 
You are correct, many people passing through this forum, and active on the forum, do not have a clear diagnosis. It's incredibly common and for all of us, immensely frustrating. I am definitely one of them.
I think it's important not to bunch all your neurological symptoms together. It's something that I have learnt over the last 4 years, where I have been sitting in limbo land, just playing the wait and see game.

I have very violent benign fasciculation...... Separate them out from all the other stuff. I did and it took away the lower motor neuron fear of ALS ( I have mainly UMN issues). My doctor does not think them important, so I do not either.
The twitching face when making expressions......take that away as well. I can't do a big smile with out my lips face twitching. Again most probably not important or related to anything at all. Doubt I would have even thought about it, had I not been made super " neurologically vigilant". Twitching muscles when being used is not necessarily significant.

Yes you have something going on, that at the moment no one can work out. It is difficult, but the waiting game, just needs to be played. We are so used to instant answers, instant solutions to our health issues, but it's way more complicated than we are aware. The ability to be patient and just get on with life, while waiting, comes eventually. It's a bit like grieving. You get to a place of peace eventually.

My husband is a neurologist, and I have been where you are for 4 years now. No real answers, but constant questions. There just is no answer at present.

I have an aunt with a withered atrophied hand for 2 years now.........no answer as to what is causing it.

Like you, I have just taken a year off doctors, refusing anymore tests or follow ups. It was the best thing for my anxiety, as I just learnt to think of others and deal with the issues I have, accepting my new restrictions. I have just been back and had mild progression, so that's good.

Best of wishes to you. Keep busy and smile as much as possible. If things get worse, go back to the neurologist.

Aly
 
Unfortunately, many conditions don't fit the textbook. Even ALS. Some have issues others don't have.

Twitching without loss of function is likely benign. Which is annoying for you--but a good thing.

Not real atrophy because it's not on the EMG? HUH? I've never heard that--but am certainly no EMG expert, either. I had one ten years ago for my legs from back problems and swore I'd never do another as long as I lived.

Atrophy is always caused by SOMETHING. But loss of function in that muscle should also be occurring. Can you use that area or is it dead and useless? I have atrophy in the hypothenar and thenar regions of both hands--left worse than right. The right side is weak, the left nearly useless--which sucks because I'm left handed. I can't hold a fork or cut a piece of meat with it. I use two hands to hold a mug of diet coke.

Getting diagnosed is a pain. The NCV should have shown if there was a nerve entrapment. Wright is the expert on EMG stuff, though.
 
Yes you have something going on, that at the moment no one can work out. It is difficult, but the waiting game, just needs to be played. We are so used to instant answers, instant solutions to our health issues, but it's way more complicated than we are aware. The ability to be patient and just get on with life, while waiting, comes eventually. It's a bit like grieving. You get to a place of peace eventually.

My husband is a neurologist, and I have been where you are for 4 years now. No real answers, but constant questions. There just is no answer at present.

I have an aunt with a withered atrophied hand for 2 years now.........no answer as to what is causing it.

Like you, I have just taken a year off doctors, refusing anymore tests or follow ups. It was the best thing for my anxiety, as I just learnt to think of others and deal with the issues I have, accepting my new restrictions. I have just been back and had mild progression, so that's good.

Best of wishes to you. Keep busy and smile as much as possible. If things get worse, go back to the neurologist.

Aly

This is good advice, and it's pretty much what I've been doing. This fall will mark my five year anniversary of symptoms. The first year was definitely the toughest mentally, because I didn't know what was all of a sudden going on with my body. But the more time that passed, the more information I had, and the better I felt mentally. So, somewhat ironically, the worst year of symptoms has been my best year in terms of happiness and mental health.

I have been patient and I moved on with my life. Really, the stress that came with my health problems was a huge contributing factor in the ending of a four relationship I had with my college girlfriend. That was sort of a wake up call for me, and it helped me break out of the funk caused by anxiety. I started having more fun, smiling a whole lot more, met the girl of my dreams and got married. In many ways, I have never been happier.

I just wish my physical body would reflect my positive mental health. As much as I have ignored these symptoms to the best of my ability, accepting that I'm in the "just don't know" camp, I can't keep continuing to do so when they're becoming more and more apparent. And of course the ultimate concern is if I can do something to stop this progression, if what I have is treatable in any way, I don't want to ignore it.

But what does not ignoring it mean? The doctors literally shrug their shoulders. The closest I have found to getting answers is with people like you, others whose current answer is "no current answer." That's why I think I'm back here; it's the only place I've been to where I've met other people who get weakness, trembling, twitching. atrophy and other similar neuromuscular symptoms, but don't fit the diagnosis of any known or easily identifiable condition.
 
Unfortunately, many conditions don't fit the textbook. Even ALS. Some have issues others don't have.

Twitching without loss of function is likely benign. Which is annoying for you--but a good thing.

Not real atrophy because it's not on the EMG? HUH? I've never heard that--but am certainly no EMG expert, either. I had one ten years ago for my legs from back problems and swore I'd never do another as long as I lived.

Atrophy is always caused by SOMETHING. But loss of function in that muscle should also be occurring. Can you use that area or is it dead and useless? I have atrophy in the hypothenar and thenar regions of both hands--left worse than right. The right side is weak, the left nearly useless--which sucks because I'm left handed. I can't hold a fork or cut a piece of meat with it. I use two hands to hold a mug of diet coke.

Getting diagnosed is a pain. The NCV should have shown if there was a nerve entrapment. Wright is the expert on EMG stuff, though.

Yeah, the "not real atrophy because it's not on the EMG" is a puzzle. I totally understand why she would say that-- if my nerve had died and my muscle stopped get innervated (not sure if I'm using the correct terms there) and subsequently died, it would show up on an EMG. Real atrophy. But even if it doesn't show up on the EMG, it doesn't change the fact that I had non-stop fasiculations in my thenar muscle, and then the twitching stopped and a chunk of my muscle went away. To use a balloon metaphor, it looks like a section of my thumb muscle has been deflated. Like I said, another doctor called it "clear atrophy."

It is still functioning. I have other muscles in the same area that seem to be picking up the slack. What happens is a whole lot of shakiness. If, for example, I play a video game that requires a lot of use of my thumb-- I can still play it, but my thumb and often my pointer finger will shake like crazy.

If I really exert my hand/arm muscles, playing baseball or something along those lines, sometimes one of my fingers will just straight up stop functioning. I want to lift it, I want to move it, but it just flops around. But then, several hours later, it becomes functional again, oftentimes accompanied by a whole lot of soreness.

Wright did weigh in on my nerve conduction studies, and said the borderline findings pointed away from ALS, and pointed towards a more demyelination disease, if I'm remembering correctly. But my docs just don't know.

I'm sorry to hear that you're unable to use your left hand. Coming back here is also an unfortunate reminder that my symptoms aren't nearly as bad as what other people are going through.

And you're right about atrophy always being caused by "something," which is why I don't think I'm in the "benign fasiculation" camp.
 
On a positive or negative note. It's highly unlikely that if it's not autoimmune or caused by a condition like disc disease, that it's treatable. Just the ugly nature of many neurological diseases. There is sometimes symptomatic treatment or disease modifying agent such as in ms, but not a heck of a lot else.

That may help alleviate your anxiety about getting a diagnosis to have it treated. Hard to take though.

Sounds like you really have got it together, which is great news. Welcome to the club :)
 
If I were you, I would go to the most experienced neurologist I could find -- someone who has seen everything at least once. I don't have a particular recommendation however since you are in Boston, I assume there are several prestigious places where you might try if you haven't been already. I would be wary of anyone in private practice alone (solo practitioners). If your doctor cannot figure out what is wrong with you, you want him or her to have colleagues to query.

You know your own body and you know if something is not right. Hopefully, what you have will resolve itself or turn out to be something treatable.

This must be very frustrating for you. I wish there were a real "Dr. House" who could figure this out with his team of relentless helpers.
 
You can spent hundreds or thousands of dollars trying to get an answer that just is not there yet. many of us have done that. Thinking if we take ourselves off to Mayo clinic or Syndney, then some hot shot specialist will have the amswers, but nuh ah. A wise man fro Texas once told me. Learn patience. it will eventually reveal itself over time. And it will, or it might just go away.
 
If I were you, I would go to the most experienced neurologist I could find -- someone who has seen everything at least once. I don't have a particular recommendation however since you are in Boston, I assume there are several prestigious places where you might try if you haven't been already. I would be wary of anyone in private practice alone (solo practitioners). If your doctor cannot figure out what is wrong with you, you want him or her to have colleagues to query.

You know your own body and you know if something is not right. Hopefully, what you have will resolve itself or turn out to be something treatable.

This must be very frustrating for you. I wish there were a real "Dr. House" who could figure this out with his team of relentless helpers.

Thank you; this is an awesome answer. I really had accepted that I was a confusing case that the doctors figured out, that I would be more than happy to be a "who knows" case rather than receive a diagnosis of ALS, PLS, MS, etc. But it's really hard to be content when things get worse. When I get new symptoms, or start struggling in ways I didn't before, that sense of urgency or frustration returns.
 
Well, sure, maybe what he has will "reveal itself over time" or "it might just go away." Or maybe not. The original poster seemed to want advice as to what to do next. I guess waiting and seeing is one thing to do. I wouldn't want to do that if I had a brain tumor, lyme disease, nerve damage, or, even ALS (because with ALS, I would think you would want to know sooner rather than later).

Many alternatives to ALS are treatable.

There is a reason people go to the Mayo Clinic, Massachusetts Gen., Hopkins, UCSF, etc.

What worked for me was going to see a very experienced neurologist who was in a group practice with other neurologists.
 
Andy, when was the last time you saw a doctor about these symptoms? And did you ever see any of the neuromuscular people at some place like Massachusetts General? Dr. Brown's not there any more -- he moved his base of operations to UMass -- but many of his former colleagues are still at Mass Gen. Or you could pop over to Amherst and see the man himself.

If you really are progressing and not just "perceiving" things, than it's worth the time and effort to give the experts another chance. As Lobster says, it might be treatable. And we're here to help you keep your head screwed on straight.
 
Lobster. He has had symptoms for 6 years. If he had anything sinister or treatable then it would have been found. His brain tumour ( easily diagnosed) would have long ago killed him as would have ALS. He has had advice for years from this site about " what to do". Sometimes there is simply nothing to do, but live with it. Many have spent a fortune and had no answer including going to the best specialists they can find.
Few sinister, treatable neurological disorders are hard to diagnose, or would not have made themselves obvious by now.

You have ALS, of course an experienced neurologist can diagnose a defined neurological illness.
 
I just re-read your post and realized I missed something--your NCV was abnormal--that also points away from ALS which is good. HOpe you do find some answers, though!
 
Andy, when was the last time you saw a doctor about these symptoms? And did you ever see any of the neuromuscular people at some place like Massachusetts General? Dr. Brown's not there any more -- he moved his base of operations to UMass -- but many of his former colleagues are still at Mass Gen. Or you could pop over to Amherst and see the man himself.

If you really are progressing and not just "perceiving" things, than it's worth the time and effort to give the experts another chance. As Lobster says, it might be treatable. And we're here to help you keep your head screwed on straight.

Hey trfogey, good to digitally see you!

I saw my PCP in April. She witnessed some of the cramping and undulating muscles in my leg, and that's when she also said there was clear atrophy in my thumb. Her best explanation is that the radiation and chemo treatment I received as a kid is causing these long term side effects, but she doesn't know what to do about it, or even if her hypothesis is correct.

I've seen doctors at Brigham and Womens and Mass General over the years. There have been two doctors that I've loved, but they both moved on to other things. I have only seen one for the past three years about these issues, the latest in the fall of 2010, and she is really dismissive. Nice, but not very thorough at all. She and I share the opinion that this isn't ALS, but her attitude seems to be "it's not ALS, bye" even though she's in a neuromuscual diagnostic office, not a strictly-ALS clinic.
 
Andy, when was the last time you saw a doctor about these symptoms? And did you ever see any of the neuromuscular people at some place like Massachusetts General? Dr. Brown's not there any more -- he moved his base of operations to UMass -- but many of his former colleagues are still at Mass Gen. Or you could pop over to Amherst and see the man himself.

If you really are progressing and not just "perceiving" things, than it's worth the time and effort to give the experts another chance. As Lobster says, it might be treatable. And we're here to help you keep your head screwed on straight.


Hey trfogey, good to digitally see you!

I saw my PCP in April. She witnessed some of the cramping and undulating muscles in my leg, and that's when she also said there was clear atrophy in my thumb. Her best explanation is that the radiation and chemo treatment I received as a kid is causing these long term side effects, but she doesn't know what to do about it, or even if her hypothesis is correct.

I've seen doctors at Brigham and Womens and Mass General over the years. There have been two doctors that I've loved, but they both moved on to other things. I have only seen one for the past three years about these issues, the latest in the fall of 2010, and she is really dismissive. Nice, but not very thorough at all. She and I share the opinion that this isn't ALS, but her attitude seems to be "it's not ALS, bye" even though she's in a neuromuscual diagnostic office, not a strictly-ALS clinic.
 
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