Respiratory restriction and bulbar symptoms - worried

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Frida95

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Hi. I've never posted in an ALS forum before,. I am 25, and I know it's an unlikely diagnosis at my age. I'd very much like some thoughts about my situation, though.

For >1 year I've been having progressive difficulties breathing, which I naturally attributed to stress or perhaps asthma. In june, I finally visited a GP since I couldn't get through a stationary work day due to constant gasping for air, and increasingly aggressive neck twitches. It's like I need to actively use all my muscles to get air in, and I have developed tiredness and soreness in the accessory breathing muscles due to this.

Also, during the last half year I've had progressive worsening of facial twitching and weakness - the last month, I can't in any setting smile without my cheeks aggressively twitching and forcing me to let the smile go. Very socially awkward, but I put this down to stress too. I've also had trouble yawning, and feeling of having to swallow multiple times when getting food down. I asked my GP for anxiety pills (benzo) to see if my symptoms would decrease, but no effect at all.

In september, I had a spirometry showing mild restriction and low air flow. FVC = 76%, FEV1 =77%. PEF = 350. I had a HRCT of the chest, showing no lung disease. I was perplexed by this, and as a med student I knew that neuromuscular disease is a cause for restrictive lung function in absence of lung disease. This is when I started to worry for real.

My GP ordered an EMG (not specifically looking for ALS, I think), which examined 7 muscles in right arm and right leg. I've had some twitching in them, so I thought that if they were clear, ALS should be outruled. EMG came back fine, and I was relieved, but as face twitching and weakness increased, I am now very worried I have bulbar and respiratory engagement that didn't show in the leg/arm EMG. I am still very perplexed about the unexplained PFT restriction.

Am I being a ruthless hypochondriac? I would really appreciate any input, wether reassuring or advisory. I hope this is not a disrespectful post, and I would never post unless I had at least this one pathological finding (the restriction at PFT)
 

lgelb

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If you are a med student, you can easily find the source material to reassure you that the hallmark of ALS is specific EMG abnormalities in most/all muscles tested, not just symptomatic ones.

What was the GP's followup plan based on the PFT? If you want to post the whole readout, we could be more helpful, but you should have received some kind of differential to go on, if it's not asthma. Depending on your age and height, a PEF of 350 is fine. You don't say if you smoke anything or if you were on benzos when you did the testing.

In short, I wouldn't be worried about ALS, but, like you, would want to make sure the FVC and FEV1 don't reflect anything that should be further explored.

Best,
Laurie
 

Frida95

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Hi Laurie, and thank you for your kind response!

I was not on benzos during testing, I only took them once (I don't have an anxiety diagnosis). I was told my age/height adjusted predicted PEF should be 490, and results were not reversible (excluding asthma). I do not smoke.

GP just concluded that she has no idea what could be the cause of the restriction, and of course all kinds of twitching can be caused by subconscious stress - my facial twitching just seem so constant, unfamiliar and extreme. As with a lot of worried people here (especially since there is always SOME ALS case where 'EMG missed somthing' etc, which feeds one's worrying...), I have a hard time shaking the whole thing off, since I can't for my life find any other cause that seems to fit right now. They had all relevant blood work done.

I'm hoping to get to see a neurologist in about 3 months, but my physical symptoms (especially the claustrophobic feeling of restricted breathing) and deep worry makes that waiting time seem unbearable.

But I really appreciate your opinion on the EMG probably excluding the ALS worry. I see you have lost a loved one to the disease, and since I can imagine how people like me (scared and convinced of a diagnosis that's not actually confirmed at all) could easily come through as disrespectful and provocative, I'm really thankful for your warm response.
 

Srch

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Did you take a fluoroscopy of your diaphragm? If your diaphragm doesn't move, you will be using neck muscles to breath.

Check the x-ray and scan of your diaphragm.
 
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