Told "probable" with strange onset

[Lmn010]

Previous thread

33M diagnosed by neurologist as "probable" based solely on clinical exam and symptoms sent for follow ups to confirm and get treatment.

Prior 1.5 years shortness of breath episodes during stressful situations. Would resolve quickly and never interfered with everyday life/sports/activity. Also about 5-10 instances of waking up short of breath in the middle of the night (twice while shaking).

Over period of last 1.5 year face thinned out on one side in the cheek hollowed out a bit. Also had tension in face.

Hands also have some noticeable atrophy that developed over several years. (I can see a photo from 2 years ago showing a dimple already formed in palm side under thumb).

Limb onset started 6 weeks ago in hands and feet at same time with cramping in all 4 (never had any cramping before this). Spread right to left calf with twitching and atrophy

Now having pretty bad shortness of breath more commonly and twitching on one side of diaphragm. Totally confused on what kind of onset this is and how affected my breathing is. A totally shocking onset from 6 weeks ago being 100% fully functional with no noticeable problems and being blind sided. I currently have no Bi-Pap and dealing with shortness of breath.

I had posted in the Do I Have ALS a few weeks ago and even got an EMG on all 4 limbs with no signs of anything. At that moment I had totally not even seen shortness of breath as a presenting symptom or related to this.

 

[lgelb]

Though you were asked not to start another thread, I have allowed this one to give your assertion the benefit of the doubt and hopefully educate others.

Please confine your updates in this thread to results of exams and tests. I would certainly see a pulmonologist before any ALS clinic, and ask about sleep as well as pulmonary testing.

Respiratory onset ALS does not present over a year and a half with SOB solely in sleep or stress.Though the process that underlies the SOB has become more visible in the day time, that does not make it ALS, fortunately. And we would expect motor neuron compromise severe enough to cause the constellation of symptoms you describe to be visible on a recent EMG.

Where was this "probable" diagnosis made?

 

[Lmn010]

2nd Neurologist clinical exam from a neuro muscular specialist. I will just reply and then leave the updates for when I visit the clinic. I respect your opinion but wouldn’t be so quick to discount the respiratory onset as the timeline of all my symptoms has been unusually strange. There was someone on the forums whose sister had RO and she simply stated that over a few years her only symptoms were being a little more out of breath on hikes and being lazy with daily tasks out of mild fatigue. Pretty much exactly as I would describe myself. I ran a mile per day up until 2 months ago and had no fatigue from it but when stressed or pushed very hard it would trigger it.

The last thing I am trying to do is spread misinformation or health anxiety. I haven’t been able to be taken seriously or get adequate help due to this. My EMG was only done on my limbs, although I was having fasics and cramping in my hands and feet for weeks at that point. No bulbar breathing muscles were tested but I was suspicious why it didn’t show up in my arms or legs at all. I will just leave my main symptoms here if anyone is interested.

-Atrophy of both hands including thenar on front and back (more left). Prior to 7 weeks ago never noticed a cramp twitch or weakness. Feet cramps and itching sensation in left side mostly

-24/7 fasics in left calf and spread to right after a month with visible atrophy inside shin bone and connective tissue underneath gastroc. Weakness in left leg but still useable.

-Random twitches in upper body including arms, shoulder, chest, and back. Not constant

-Atrophy of left side masseter muscle compared to right it’s sunken in.

-Fatigue, headaches, and difficulty laying flat to sleep now. Wake up sweating legs and internal tremors usually very early in morning that I can vaguely feel in my head.

-Strange cramp or twitch feeling on left side of stomach near diaphragm.

As you can see I’m struggling immensely. But because I appear to be a semi strong young person I kept getting pushed off with casual clinical exams. If there is anything else they could cause these symptoms I would be all ears but I’m pretty sure at this point what it is. It is just so unbelievably strange that before 50 days ago I was 100% oblivious to anything bad going on and never had a single twitch or weakness. Thank you for allowing me to open this

 

[lgelb]

Closing for now pending further information on status of the diagnostic process.

Eta worried people please refer to the ops profile to see follow up