Respiratory Onset, not taken seriously by doctors

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MishaTarkus

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Good afternoon.

I'm a 26M (Yes, I know) that started having respiratory issues back in May 2024. I would wake up gasping or with a start with no explanation. A few days later this happened again, but I kept involuntarily gasping for hours after waking up.

Did cardio, pulmonary and general check up. Everything came back normal but some slightly high blood pressure for my age. Started taking some meds. OK.

Soon after I get full time dyspnea. Improves with exercise at first, later at all times. Sleeping on my side or elevated helped. Doctor thought maybe stomach acid and have me anti acids. No help. Albuterol didn't do anything either.

Had a sleep exam scheduled, but couldn't do it in time due to severe scheduling problems. I don't realize at the time, but a few months later I start inexplicably waking up at night, sometimes with very numb hands.

Last month or so, I start having these pulses on my left foot. Then they turn into pain, neuropathic, brief stabs. I get checked for blood sugar issues. No such thing. I get used to them. This whole period, despite meds, BP remains somewhat high.

I run for my exercise, and I'm getting some PRs a week later, then suddenly... Incredible exhaustion on my legs. Breathing is also making it difficult to run well too. I notice my heartbeat can be seen clearly through my chest when I'm lying down, and my hands and feet feel veinier. Whatever.

I take a break from running for a few days, but strangely my calves feel entirely locked up a few days *after*, suddenly. They are firm, not swollen. A few days later, they loosen, but they return loose. Flaccid, don't tense as well as they used to.

I schedule a neurologist visit. Over the course of the next few days, my back feels sore when lying down, sitting becomes unconformable, I realize one of my thigh muscles is smaller than the other, my legs start to feel heavy, my throat/trachea feels squishy and soft. I go to the doctor.

He schedules an emg for January, tests me physically, says he doesn't see weakness or atrophy but some hyperreflexia on my left knee. We get mild elevation on cpk (340), normal CNP and sed rates. Low vitamin D.

I go home and start getting fasciculations on my left leg. My muscles seem to be getting smaller, but I'm so muscular it's not obvious. My arms and back feel squishy to the touch even when I try to tense them and my hands feel uncoordinated and uncooperative, but I can still do buttons. My swallowing becomes worse, I burp after drinking water. I can't find a good position to sleep - my throat feels squishy inside. My legs feel weak and heavy, and I can't type because my arms feel heavy. I can't sleep.


I beg him to do an emg *now*. He does, but only in my right arm and leg, which never had twitching. He says they look normal and to relax, orders some lyme and myasthedia tests.


I try to relax but a few days later get the actual report.

"
NCV & EMG Findings:All nerve conduction studies (as indicated in the following tables) were within normal limits.

Needle evaluation of the right vastus lateralis muscle showed slightly increased duration, slightly increased motor unit amplitude, and diminished recruitment. All remaining muscles (as indicated in the following table) showed no evidence of electrical instability."

That's not a clean EMG!! That's a classic sign of *early ALS*, and it's in a muscle that is clearly smaller than it's other half on my non dominant leg.

My weakness continues getting worse. I can barely sit in chairs, I'm walking with a limp. I use an oxymeter at night and realize that often my oxygen is dipping into the 80s - one time I catch it at 79. My average while awake is 96.

Doctors still aren't taking me seriously, but I don't see anything else it could be. I'm afraid I'm going to die without a diagnosis. My back feels completely smooth, and my butt feels like it's not there.

I feel hopeless. I just got married, I'm 26.
 
No that isn’t a classic sign of early ALS.

Your whole description doesn’t sound like ALS. Let us know what happens with your follow up
 
What would you say it is? Respiratory onset, from what I understand, presents with dyspnea, then core weakness, then limbs and bulbar with fast progression. What else could it be? My muscle atrophy was observed by the doctor, too, specially on the leg.

I also had clean brain and spine MRIs
 
Respiratory onset does not manifest with low sats (the major problem in ALS is CO2 levels, not O2 levels) or in the sequence you describe. And progression is not as you describe, either. So "what you understand" is incomplete.

The low vitamin D could certainly play in. I would suggest consideration of supplementation in consultation with the doc based on your history and the labs (the full panel with Ca, P, etc.)

Everything you describe suggests you should be working to schedule the sleep study, not another EMG. The hallmark of ALS is specific abnormalities in muscles that are NOT symptomatic. And I have never heard of ALS with isolated quad findings on EMG. That just doesn't compute if you think about where the quad is.

If you had pulmonary function testing (not clear from what you wrote) and it was normal, there is no clinical respiratory impairment, ALS-related or otherwise. If you didn't, that'd be the next thing to do after the sleep study, if the sleep study is negative.

A factoid you might want to take on board: I know of zero cases of dying with undiagnosed ALS in countries with any semblance of health care, and a quick PubMed scan doesn't describe any, either.

There are thousands of differentials between "nothing" and "ALS." But you will find it hard to be taken seriously if you fixate on a disease for which you have reported no evidence. That paints you as someone looking for affirmation of a fixed belief instead of an accurate dx.
 
You need a sleep study.
 
A short update. I returned home to Brazil to get faster treatment and tests - since, I've done a pulmonary function test (I hadn't before) and that returned normal, although we only did it while awake and standing up. My oxygen does indeed fall at night, and we continued with a more full EMG profile.

We did the other side (where I had the constant twitching), did both limbs and the back muscles. Tongue again to be sure.. All returned clear - actually clear, this time. I have some mild lordosis my doctor detected on my back, and she ordered another spinal MRI to see if there's anything possibly relevant on that end.

There's a lot of confusion, now. I clearly lost a lot of muscle mass on my back - she could verify that - and when trying to do exercises it's like some muscles on my back don't quite seem to activate, but with this clear EMG, she says ALS is pretty much ruled out. What I'm curious about is what conditions could have mimicked it in this way - I even swear I have some bulbar symptoms, such as dysphagia (we are doing that one exam with the pills soon) and I've recently tripped on words I used to not trip on.

I appreciate your patience as I navigate this. Going ahead, we are going to do the swallow exam, a proper in-office sleep study, and an endoscopy (I think thats how youw rite it) to double check my gastric processes.
 
Got an endoscopy today and received these results.

Esophagoscopy:
Mucosa of the lower third of the esophagus shows longitudinal erosions, confluent, with adjacent thickening, larger than 5 mm, involving half of the circumference of the esophagus. Cardia is permeable. The mucosa contracted normally with diaphragm pinching.

Gastroscopy:
Stomach fundus observed without lesions. The body and antrum of the stomach present erosions with thickening and adjacent edema. Pylorus permeable. Gastric secretion is clean. Normal distensibility. The retroflex maneuver shows a hiatal diaphragm totally involving the video endoscope. Material was collected for H. pylori testing (urease test).

Duodenoscopy:
The duodenal bulb shows erosions with thickening and adjacent edema. The second portion appears normal under endoscopy.

Endoscopic Diagnosis:

Erosive Esophagitis - Grade C of the Los Angeles classification.
Mild Erosive Pangastritis.
Erosive Duodenitis.
Urease Test: Negative.

Notably, I'd gotten a acid reflux diagnosis early on this search, and took PPIs and Famotidie for months with no effect, to the point that very doctor ruled out acid reflux. Can this be a sign of neurological disease?

I keep tripping on words, and some sounds (like the end of "depth") are suddenly difficult. I'm still worried I'm suffering from respiratory ALS: my oxygen at night remains really low, my back muscles have (verifiably) disappeared, and I've heard paralysis of the esophagus could cause these issues.
 
No not a sign of neurological disease

You do not have a paralyzed esophagus. It says so in the report

You had normal pfts you do not have respiratory ALS

You had a normal emg.

You do have severe erosive esophagitis. Instead of chasing a neurological disease concentrate on that
 
I understand there are a lot of cases where concerns are entirely unfounded, but the issues are thus: My first EMG wasn't fully clean. My back muscles, as verified by my neurologist, seem to just be missing. I have pictures of my back muscles from a year ago that were well defined. The outer side of my calves seems similarly "sucked in". My legs feel weak, not to the point of failure, but I do fail in small things like putting my arm on a windowsill comfortably.

More recently I started having issue with "th" sounds. Depth, depths, breather, it seems I have to very carefully try to pronounce them. There's just a lot unexplained right now.
 
If you do not believe your doctors, the electrodiagnostic testing or the people here, then what would you like people on this forum to do for you?
 
If your muscles were hollowed out by ALS, the EMG would show signs of ALS. However, untreated spine deformities can certainly affect musculature.

If your muscles were too weak from ALS to pronounce words comfortably, the EMG would show signs of ALS and the PFTs would not be normal because you wouldn't be able to hold a mouthpiece seal or embouchure for breathing. However, EE can certainly affect your comfort in breathing, speaking, and swallowing. So here's your answer: treat it, and consider its likely effects on your sleep as well, as per above.

Probably hundreds of thousands of people have "not fully clean" EMGs every year without ALS. None that have muscles hollowed out by ALS and speech difficulties due to it will have "not fully clean" EMGs. They will have EMGs suggestive of motor neuron disease.

The only thing "unexplained right now" is why you are still here, when you have a diagnosis and treatment path to follow for something that, fortunately, is far from ALS. I'm closing your thread so you can get to work on that path with your doctors. Please do not start another.
 
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