Respiratory Onset ALS?

[Druperd93]

Hi everyone, first off thank you for your time. I have been hesitant to post because I know the likelihood and the odds are ever so slim but I am hoping for some reassurance.

I suppose I will begin with when I began feeling bad. I had woken up one morning and my arms were above my head and I had a lot of pressure in my neck and shoulder. When I reached up to feel the area my neck vein was bulging out and sent me into a panic.

I saw my neuro and she said possibly thoracic outlet syndrome. Sent me for an MRI which was inconclusive and basically ignored it. That was probably about a year ago that it started. I went on with my daily life and ignored it but it seemed to get worse and got to where I cant eat with my right arm or chew without it bulging out of my neck.

In December I began having some shortness of breath and went to the e.r. They did a chest CT and said all was normal again. Finally my neuro recommended me to a vascular surgeon who did a work up and said that they did find a pinch in my chest and referred me to UNC to a thoracic outlet surgeon, one of the few in the country.

So I had that appointment about three weeks ago and the surgeon really sent me into a panic. He said he wanted a conclusive MRI before even considering me for surgery and wanted to first rule out ALS and MS of all things. I wasn't sure why he would have said that but now that I look up the symptoms (Naturally) they are seeming to line up.

I had some major cramping and fatigue back in December which seemed to subside into twitching which now covers my entire body including and primarily my right rib cage and occasionally my tongue. I do have some difficulty swallowing and severe pressure in my upper abdomen/lower chest. I'm starting to wonder if my diaphragm is weak or malfunctioning.

I have since started having some weakness in my right shoulder and thumb. I did have an abnormal brain MRI which they have repeated and ruled out MS. I did have an nerve conduction and EEG back in January/beginning of February and they only did my limbs but said it was normal.

I have lost about 25 pounds since January and I have gotten to the point now where I am severely fatigued and can't stand for too long before crashing and am just overall exhausted. I am 26 (yes I know how slim the chances are) with two young babies and a wife so I do have some anxiety over it but I have been seeing a therapist recently who said she believes my anxiety is from my symptoms and not vice versa and I have been on amytriptiline for anxiety and depression for about 2 months now.

I suppose my question is, if it were respiratory/thoracic onset ALS what are typically the symptoms or someones experience with it? Anybody with a similar experience that turned out being something else?

Would the EEG show up if they did not check my thoracic/respiratory region?

Could the inability to stay standing for extended periods be from weakened abdominal/back muscles if that is the next region to be affected?

I'm just not sure what else could be causing most of these crazy symptoms, I've had a pretty good blood workup but my neuro wants to refer me to the undiagnosed disease network before diagnosing me with chronic fatigue syndrome or something of that sort.

Again I know how crazy it seems but i'm sort of at a loss and grasping for straws at this point. Thanks.

Daniel

 

[lgelb]

Hi, Daniel, sorry for your troubles. If the 2nd vascular surgeon is not seeing the same thing that the first one did, a third opinion is not out of bounds, or often surgeons consult with one another. Have they been in contact? I would think they would repeat the imaging that showed the "pinch" if there were questions. There are also many options for post-processing the films and doing 3D mapping of the vasculature these days.

Is the weight loss about eating less from anxiety, or are you not sure? That is a lot if you did not have it to lose, and would certainly sap your energy if it resulted in your being underweight.

I am assuming where you typed EEG, you mean EMG. With the symptoms you describe, a normal EMG is very reassuring as to ALS. There really is no "thoracic onset ALS," exhaustion while standing isn't really a stage in the sequence you're describing, and you haven't described respiratory onset.

I presume no one hears you gasping in your sleep, nor are you falling asleep during the day. You can record yourself sleeping to make sure, and might also ask your internist about pulmonary function tests, or get referred to a pulmonologist, to see where you stand.

So then I am circling back to the TOS concept and trying to understand if it's been abandoned, if it's real, or what, but you're on the ground and may need to herd some cats to get people talking to/emailing each other. But this does not sound like ALS.

Best,
Laurie

 

[Druperd93]

Hi, Daniel, sorry for your troubles. If the 2nd vascular surgeon is not seeing the same thing that the first one did, a third opinion is not out of bounds, or often surgeons consult with one another. Have they been in contact? I would think they would repeat the imaging that showed the "pinch" if there were questions. There are also many options for post-processing the films and doing 3D mapping of the vasculature these days.

Is the weight loss about eating less from anxiety, or are you not sure? That is a lot if you did not have it to lose, and would certainly sap your energy if it resulted in your being underweight.

I am assuming where you typed EEG, you mean EMG. With the symptoms you describe, a normal EMG is very reassuring as to ALS. There really is no "thoracic onset ALS," exhaustion while standing isn't really a stage in the sequence you're describing, and you haven't described respiratory onset.

I presume no one hears you gasping in your sleep, nor are you falling asleep during the day. You can record yourself sleeping to make sure, and might also ask your internist about pulmonary function tests, or get referred to a pulmonologist, to see where you stand.

So then I am circling back to the TOS concept and trying to understand if it's been abandoned, if it's real, or what, but you're on the ground and may need to herd some cats to get people talking to/emailing each other. But this does not sound like ALS.

Best,
Laurie

Hi Lorie! Thank you for your response. The thoracic doctor ordered the MRI which I just followed through with Thursday. I'm just very puzzled by it because I dont have many of the symptoms related with TOS especially pain so that is what leads me to think it may be something else. I follow up with him in two weeks.

The weight loss came after a bout of stomach problems back in January. I had gotten a brief sickness that never really got better but now it seems to be sticking with me and even though I'm eating a good amount and essentially bed ridden for the last few weeks, I cant put my weight back on and I feel like a good bit of it is muscle weight.

I did mean eeg, my apologies! I know it's not necessarily a perfect match to respiratory onset but the increasing shortness of breath is what really bothers me especially since the thoracic outlet problem is being so hard to figure out. I also notice my right rib cage is more narrow and seemingly pliable? I know I'm hypersensitive at this point but I'm just trying to find anything to explain my symptoms so I can attempt to get better and take care of my family. I have a breathing test and sleep study on Monday so maybe it will shine some.light...