What could I be missing?

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TURNEJ10

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Aug 8, 2020
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4
Reason
Learn about ALS
Diagnosis
00/0000
Country
US
State
GA
City
Atlanta
I am a 37 year old fit male with a 2.5 year symptom history.

- May 2020: shortness of breath with reduced endurance, felt as if I had bricks on my chest when standing in swimming pool.

- Symptoms progress gradually, widespread twitching, worsened shortness of breath, especially when lying down.

- Bilateral full body subjective weakness, muscle tenderness, very gradual loss of bulk, none of the doctors claim to see even though I’ve taken measurements. (Neck is weakening and has shrunk from 15.5” to 14”) **Not body fat as I am very lean)

- Mild cognitive abnormalities, like aphasia. ie not recalling or saying correct words with long pauses in between.

- Normal brain and cervical spine MRIs.

- PFT normal except MIP 86%Pred, MEP 43% (as of 2 years ago)

- 3 normal EMGs

- 1 mild abnormal SFEMG.

- MG ruled out- negative blood test for AChR and MuSK antibodies. I even did a trial of pyridostigmine in case I might have sero negative MG.

- Normal genetic testing, normal blood tests, normal CK.

I have read that SFEMGs will be abnormal due to its high sensitivity before a standard EMG can detect abnormalities in ALS.

I have also read that younger people typically progress much slower and I think I might fall into that category (I was 35 at symptom onset).

Any insight from anyone who has experienced something similar would be appreciated. Thank you.
 
Never heard of ALS like this.
Sorry you are going through this.
Do you have a diagnosis at all, even if you don't agree with it?
 
Have you had a repeat PFT? What does your Pulmonologist recommend regarding repeating the test? I'd work with your Pulmonologist and get re-tested. There are many factors that impact breathing numbers and there is no reason to believe it is ALS at this point.
 
If you had respiratory onset ALS as seen on PFTs 2y ago, things would be a lot worse now. Though you may have read that SFEMG is typically abnormal in ALS, what you do not mention is that it is a nonspecific test -- abnormal in other conditions as well.

That younger PALS can have longer survival does not change the happy fact that you've had three normal EMGs, so no reason to think of ALS at this point. And if you have perceived musculature changes that docs aren't seeing, maybe you're looking a bit too closely. Diffuse tenderness, if ongoing, suggests asking your internist about the advisability of seeing a rheumatologist.

I agree that you should follow up with the pulmonologist if you continue to have breathing difficulty, and perhaps ask about a sleep study.

Best,
Laurie
 
First off, @affected, @KimT, and @lgelb thank you so much for your responses.

- @affected I have not received any diagnosis. The closest thing was a possible Myasthenia Gravis diagnosis but that was soon ruled out.

I forgot to mention the genetics doc said I had a DMD gene (muscular dystrophy) but said my CK wouldn’t be normal.

@KimT I agree, I need to go back and see the pulmonologist to get a recent and objective look at the changes.

@lgelb I see your point about the SFEMG, especially since it most likely would be abnormal in most if not all neuromuscular conditions. I guess I am hypersensitive to my physical form because I’ve received several comments from people I know about how “skinny” I am. I also see a correlation between my slow progressive decline and abilities in the gym, specifically weight training. So this somewhat subjective and objective, I think.

I have been to a rheumatologist and all of the blood tests and screening were normal.

I will take all of your advice and see the pulmonologist again. Thank you all so very much.

Best Regards and Happy Holidays,

Michael
 
Definitely a pulmonologist as if the shortness of breath has a physical root it will show on tests.
 
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