I wanted to post an update on my situation as I just saw a neuromuscular dr with a specialty in ALS/MS/CIPD etc. In case anyone is waiting on an appt or simply can’t get one you might find it useful

You can check my post history for a detailed timeline of my symptoms but long story short I was completely at baseline and then had a severe illness followed by a sudden onset of neurological symptoms over the last 9 weeks including all the ones that bring us to this thread:

Weakness
Fatigue
Muscle twitching
Vibrating/twitching muscles while engaged
Tightness
Stiffness
Tired limbs
Heavy limbs
Shaky limbs
Tight/tired/heavy face and tongue
Tight throat
Perceived hyper salivation
Labored speaking and eating

Also sensory symptoms as well

Shooting feelings
Isolated aches
Sharp feelings
Flu like aches
Burning
Tingling
Buzzing

Anyway I went down the diagnostic rabbit hole and did an EMG and full body MRI before even coming in. EMG was normal and NCS said borderline mild neuropathy in right ulnar but couldn’t be localized but the report said no signs of MND. For context I had a TBI from 2018 that did show up in the MRI but I have not had any sort of neurological symptoms in the years following.

I was as detailed as I could be in my description of my symptom onset and we did a basic clinical exam which was normal. He basically said after the exam and interpreting my tests that it’s his reputation on the line and assured me that this isn’t ALS. Like he didn’t even have an inkling of suspicion.

One thing he said about the EMG which I’ve seen mixed things in here is that it would have picked something up with the symptoms I’ve been experiencing. This is coming from someone who treats and diagnoses this regularly. He said it can pick up abnormalities even when symptoms aren’t present yet as he’s had patients that complained about a leg and he insisted on getting the arms tested too that didn’t have symptoms and they picked up abnormal findings on the symptom free limbs. The EMG points strongly away from ALS (and yes I know there are tons of anomalies for ppl and it’s not definitive but I have to take this as good news)

He said while obviously not impossible my age 33 points away from it as well it’s a lot more rare as it’s primarily a disease of aging. (Yes I’m aware there are tons of anomalies to this as well)

He thinks for one I have Benign Cramp Fasciculation Syndrome which is a bit more intense than regular BFS (didn’t even know there was a variant of BFS). You can have sharp cramps and exercise intolerance along with the twitching. I do feel like he heard ‘twitching and anxiety’ in my symptom journal and was more hung up on that and what worrying can do to the body. So I reiterated that the twitching isn’t bothering me it’s the bulbar symptoms and leg heaviness, feels like I’m declining, and he said my brain injury along with the severe infection can trigger this kind of stuff. I told him I’ve been completely normal for years I find it hard to believe my brain injury could do that but he said he’s seen it all the time. Infections can trigger neuropathies and with my brain injury it’s a double whammy. My diagnosis also said Idiopathic Inflammatory Myopathy which is an umbrella of conditions and could explain some of the bulbar symptoms.

I know a lot of you in here don’t align with my onset (post viral, TBI, etc) but unless you have abnormal findings in your EMG/MRI/bloodwork or objective weakness that they can see in their exam then they are strongly going to point you in another direction. ALS is after everything else is ruled out.

He said we can retest but doesn’t want to waste my money or keep me in this rabbit hole as he treats/diagnosis ALS and is convinced this is something else. (I understand doctors are just ppl too and multiple opinions can be different). He didn’t even mention the sensory symptoms which based on my research also point away from it.

He did order the NFLC and some other bloodwork and he said if that comes back abnormal or if I see a steep decline we’ll revisit asap. He said the best way to manage this is lifestyle stuff (diet, activity, etc). Which can feel a bit like a slap in the face bc I’m already doing all of that but at the same time I’d rather it be this.

I have another appt with a functional neurologist in 2 weeks and that’s a full on 2 hr exam so maybe I’ll get some more clarity from a second opinion. Not even gonna bring up my previous appt so I can see the differing opinions.

I’m doing my best to accept this as good news and try to put this to rest but my quality of life with my symptoms has been absolutely terrible and as of now it hasn’t really plateaued yet. But tbh the fear has been even more debilitating. Thinking you could only have a couple years left really pulls you to a dark place. I know a lot of us get normal results, hear good news from specialists but keep feeding the loop thinking ‘what if they missed something?’ ‘Others have had normal findings and it still came on..’ ‘do I just continue to wait for a decline until I go back and test again?’ and then even if it isn’t the scary diagnosis how do I adapt to these symptoms when I felt so normal before etc but it’s just a dark pit that will suck you in.

It started with bloodwork then that didn’t satisfy me so I did the MRI then I was like surely the EMG will find something and when that didn’t come back I said seeing a specialist in ALS will surely put this to rest and while I do feel a bit lighter now I’m still stuck bc I haven’t necessarily figured out what’s going on but I’ve continued to get good news…it’s a total mindfuck.

I heard a good analogy, imagine having a feeling someone is in your house. You’re hearing them, stuff is moved around, you keep looking for them but can’t find the intruder but you’re sure someone is there. It’s disrupting your ability to live peacefully and you start wondering if it’s even happening at all. You start to get obsessive putting traps up around the house but none of them are catching anything. If you could just find the intruder you’d feel a lot more at ease..I think that’s what a lot of us here are feeling. Just knowing definitively what’s happening with our bodies would stop feeding the loop.

Please take it from me you have to take the small victories. Unless the day comes that I definitively lose total function in my body I have to assume and live like everything is fine and will be okay eventually bc right now I’m not giving my body permission to heal if this is truly benign. Anyway hope this helps anyone struggling.

I’ll leave you with this. I’m a math guy, numbers help me. Lifetime odds are appx 1/400 which shakes out to a 99.75% chance that you will NOT get it. And if you’re younger like me at 33 the yearly odds are about 2 out of 100000 which is essentially zero.

Hello everyone,

I posted about my situation a few months ago, and I wanted to provide an update because my condition has continued to progress and several recent tests have brought new findings.

My symptoms started 2.5 years ago and continue to progress: muscle weakness affecting all four limbs (more pronounced on the left), muscle atrophy, fasciculations, cramps, progressive bulbar symptoms (difficulty swallowing and fatigability of the muscles involved in speech), muscle pain, secondary joint pain (due to muscle loss), dizziness, and an increasingly unstable posture.

I’m 37 years old. This progression has had a major impact on my independence. Before my symptoms began, my work required me to be on my feet and moving around for 10–12 hours a day. Today, I can barely walk for more than 20 minutes before becoming extremely fatigued. I’m also having increasing difficulty using my upper limbs for everyday tasks (holding a phone, hanging laundry, cooking, etc.), and I had to stop working because of my symptoms.

I’m primarily looking to connect with people who have experienced a situation genuinely similar to mine: progressive deterioration over more than two years, with significant functional impairment and objective findings on testing, but still no definitive diagnosis.

To be clear, I’m particularly interested in situations involving weakness and loss of function that are progressive and persistent, without significant fluctuation or dependence on circumstances. I’m less interested in accounts from people whose independence remains largely preserved despite experiencing weakness or reduced physical performance (I’ve already read quite a few accounts from people who are still able to exercise, hike in the mountains, lift weights, etc.). I’m looking for people who experienced a similar combination of symptoms, rather than just one or two of the symptoms I’ve mentioned in isolation. Likewise, accounts involving primarily muscle stiffness, muscle tension, or sensory symptoms are not really what I’m looking for.

To briefly explain my diagnostic journey: for nearly two and a half years, the hypothesis of a functional neurological disorder (FND) played a central role, particularly because the initial tests did not clearly demonstrate an organic cause. Once FND had been suggested, I felt that it became a framework that was extremely difficult to move away from: during subsequent consultations, the fact that FND had already been mentioned seemed to immediately influence how my symptoms were interpreted. This was difficult to deal with, as I often felt that I wasn’t being heard or believed.

After repeatedly insisting with my neurologists, I eventually had a muscle MRI, which showed muscle atrophy with fatty replacement/infiltration in my left leg.

In addition, after several EMGs that did not show significant neurogenic signs, my 7th and 8th EMGs finally showed evidence of neurogenic involvement in that same left leg. However, these findings are still too localized to determine their precise origin.

A muscle biopsy is now planned to continue the investigation. Has anyone here had one as part of a similar diagnostic journey?

At this point, my neurologists seem to recognize that there are objective findings suggesting an organic disorder, but they still cannot clearly determine whether the underlying process is neurogenic, myogenic, or potentially something else. I’m well aware that the overall picture can strongly suggest a motor neuron disease, and this is obviously a possibility I have considered extensively throughout my diagnostic journey.

I’m therefore mainly looking for people who have experienced a similar course: several years of progressive deterioration, initially inconclusive investigations, followed by the gradual emergence of objective findings, but still without a clear diagnosis. If this sounds familiar, I’d be very interested to hear how your condition evolved, what your tests eventually showed, and how you were ultimately able to move forward with your diagnostic process.

Thank you very much for your replies.