Diagnosis still pending - 26 yr old male with progressive weakness for 2.5 years

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Falone

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Hi there,

As per the mod's request, I'm providing an update on my situation - previous thread here: Could this be ALS? 25m - after having just had another EMG. If you look at my previous thread you will see that I have been suffering from constant, all-over-body fasciculations accompanied by progressive muscle weakness and atrophy for about 2.5-3 years now. My problems began with a sudden loss of the ability to burp in August 2018. It was as though a bunch of muscles at the back/bottom of the top of my throat suddenly went slack and numb (by which I don't mean I wouldn't feel it if you pricked them but that there wasn't the usual responsiveness, it's a difficult sensation to explain). At this time I began suffering from frequent, unexplained yawning, hiccuping and microburping, having hundreds a day. A few months later I began having facial twitching, including cheek and lip twitching and jaw jerks, then in June 2019 I suddenly lost the ability to swallow normally. The sensation was identical to what occured with the burping. Several muscles below my chin, or at least I assume that's what they were, suddenly went slack, the muscles for swallowing kept spasming and would not coordinate. I could barely swallow for about three weeks before I learned an alternative technique for swallowing, triggering the swallow in a different way and was then able to swallow more effectively, although this has since slowly declined again. Unfortunately, around this time I began suffering from mild but progressive neck, core, arm and leg weakness, in that order, always with fasciculations. This was mild at first but has continued and gradually become more severe to the point where since mid 2020 I have been unable to work out due to weakness and extreme fatigue as well as poor recovery and have recently had to give up sports because my muscles are buckling. My facial muscles are now so weak that I cannot smile without everything twitching instantly and my speech has begun to deteriorate accompanied by clear tongue atrophy.

As I'm sure you can appreciate, given the fasciculations, progressive weakness and atrophy of various limbs and muscles all over my body I have been concerned about ALS. Once various structural disorders to account for my swallowing etc. were ruled out in late 2019/early 2020 I began investigating possible neurological causes. In February 2021 I saw a neurologist who based on my description of my symptoms was concerned about ALS. However, while he noticed fasciculations, a tremor, brisk reflexes and weakness, he said that he did not think my weakness was clinical and that he thought ALS was unlikely. I was not completely reassured by this since (1) there are few other explanations for my symptoms, and (2) he is not an ALS specialist. He said that I could have an EMG, which I did and that came back normal, apparently, having tested perhaps three of four limbs, mainly on my right side. I ruled ALS out at that point and went looking for other causes of my symptoms.

Unfortunately, since then my symptoms have continued to worsen and particularly with speech difficulties and tongue atrophy, as well as now really stark arm weakness, much worse on my left side, I have begun to worry again. I saw a local GP, who detected clinical weakness now and said that they are concerned that I might have ALS or another neuromuscular disorder and have referred me to a neurologist for another opinion. In the meantime they ran several blood tests. I had normal CK levels, apparently ruling out a myopathy or dystrophy, I tested negative for myaesthia gravis (sp) antibodies, so that is off the table too. The only thing that was abnormal was that I have scored consistently below normal testosterone and I also had a single blood test which came low for cortisol. I have recently had a battery of other blood tests and a stim test to check for possible Addison's disease or another similar disorder, but in truth I expect these to come back negative.

Because the waiting list to see a neurologist on the NHS is so long I have recently paid for a private EMG. However, this process was disappointing. The guy who did this is/was again not an ALS, or even a neuromuscular specialist, was running late so rushed my test and only did two limbs - my right hand and foot - which are actually where my symptoms are the least prevalent. He said that the readings were almost exactly the same as my last test on those limbs a year ago and so there was no evidence of deenervation as would be expected with ALS. But at this point I must admit that this has not reassured me. I know my body, all my symptoms are real, significant, and no other viable causes seem to exist that could explain all this, and I have read too many stories of people who were told they had 'normal' emgs by non-ALS specialists or by EMG operators who didn't do the most symptomatic areas etc. So I have booked an appointment to see an ALS specialist in London privately in a couple of weeks time.

I'm hoping that he will give me some answers but in the meantime, I would be very grateful for anyone's thoughts on what on earth could be going on with my body.
Every symptom I report is accurate, many have been ratified by doctors now, and from everything I have read my case seems to point towards ALS, especially given that the common mimics have been ruled out. This is consuming my life. I want to be well again. To be able to work out, to exercise, and for this steady decline of functions to stop, but the doctors seem clueless, and answers are slow in coming.

Thank you,

Falone

EDIT: To the mods, please keep this thread open as I will update it again once I have seen the ALS specialist in a week or so.
 
It is not our place to attempt to diagnose you. Let us know what the MND specialist says
 
Thank you for replying, Nikki, and I hope you're well. Can I take from this that you still don't think that I have ALS? It seems I'm in an awkward situation where despite the online consensus from my first post being that I didn't have ALS, the ruling out of mimics and the progression of symptoms now suggests that I do?
 
It sounds nothing like any ALS onset that I'm familiar with. However, as Nikki said, it's not this forum's place to diagnose; that's what the professionals are for. Please update when you've seen the specialist. I'm confident that his/her findings will be similar to the other docs you have seen.

Good luck to you.
 
Since you asked….Do I think you have ALS? No but you have an appointment with an expert. I hope you will believe whatever they tell you and if it is no that you will move on
 
Oh I truly hope you can finally let this go when you see the ALS specialist. I'm saddened to think you have let this fear rule your young life since 2018.
Please do finally believe the doctors.
 
Thanks for your reply and well wishes. It has certainly been a difficult few years, and I hope that the expert gives me good news and that ALS can finally be ruled out for me too. The difficulty I have is simply that all the mimics have at this point been ruled out and there are no other obvious explanations for my symptoms which according to literally every information page or article I read about the disease are closely fitted to ALS.

What other disorders are there in which there is significant progressive weakness and wasting throughout all the muscles in the body, accompanied by near-constant twitching? I cannot find any (beyond a few already ruled out mimics). When the weakness was fairly mild and I had swallowing problems but no obvious speech deficits, I thought an idiopathic connective tissue disease stemming from a strange reaction to Minoxidil was the cause, but now the symptoms seem to have extended beyond what that could realistically cause. ALS seems to be the only thing left. (Addison's and/or a cortisol or thyroid problem was ruled out the other day.)

The problem is compounded by from what I read, both in medical literature and in anecdotal stories of sufferers, ALS is a very heterogeneous disease. I have spoken to people whose first symptom was compulsive yawning (like the hundreds of yawns and microburps I had alongside burping issues as my first symptom) and all manner of other strange beginnings. It seems that while weakness in a distal limb and/or swallowing and speech problems together are the most common presentations, there are many others.

EMG is apparently a rather unreliable test (only 60% sensitive for ALS) and according to a recent article I read by a top UK ALS expert, there is now a drive to reduce the role EMG plays in diagnosing the disease. Apparently, and I'm paraphrasing, he encourages neurologists to be bolder in diagnosis: if there is widespread progressive weakness with fasciculations (upper and lower motor neurone signs) and mimics have been ruled out he argues that ALS should be diagnosed even without an EMG. I think I must be at this point.

I literally have massive gaps where there used to be muscle (for example on the right hand back of my neck, parts of my thights and calves and so on) and am no longer able to play sports or do dynamic, intense activities (and day to day is becoming a struggle). That's why I'm still concerned. Something is clearly wrong, it's interfering with my life in a major way and ticks all of the boxes for ALS with mimics ruled out. But I'll wait to see what the specialist says.
- Thanks again
 
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Honestly, we can't do anything, and I can't read those dense blocks of text.
You do not have anything that would make us or your doctors suspect ALS.
Please see your PHP for help while you wait, we truly can't help any further until you come back with an ALS specialist diagnosis.
There are forums online for people who have undiagnosed medical issues to talk to each other.
 
I do have to correct some of your misperceptions, lest they confuse others.

It is not true that EMG is only 60% sensitive for ALS (that would mean that it misses 40% of true ALS cases), and the role of EMG is well-established, along with other clinical criteria, in the internationally-published diagnostic criteria for ALS. It remains a disease that cannot be diagnosed by patients or clinicians in the absence of EMG findings. No reputable specialist has recommended abandoning those criteria.

The fact that you cannot ascribe some other diagnosis to your issues does not in any way make ALS likely or inevitable. You seem to be working overtime to create your own differential diagnosis, evidently in ignorance of the thousands of mild neuromuscular syndromes, hundreds of thousands of possible systemic explanations, and despite the fact that the natural history of ALS does not resemble the 2.5 years that you describe, let alone with clean EMGs. You also persist in connecting what you perceive as "constant twitching" (that is not seen in ALS) with what you perceive as weakness, without evidence of anything but a psychological connection.

The stories you think you have read about many cases beginning with things like yawning and burping, two everyday phenomena, are beneath comment. If either was typical onset, there would be much more ALS in the world. And if you had "massive gaps" where muscles used to be, along with clinical tongue atrophy, it is difficult to see how your functional deficit would not correspond.

The statement that ALS onset typically is distal or bulbar is like saying the sun sets in the west. You are literally trying to talk yourself into accepting a diagnosis that you do not have. Ruling out a few mimics does not rule "in" something that the criteria do not fit, do not even come close by your account. 2.5 years in, you're walking, talking, and have a clean EMG. Think about that. Have you read any PALS account here that comes close? Or are you only reading stories that fit what you think is the truth? Reading scattered anecdotes on the Internet, biased by the vagaries of memory and obviously, trauma, is simply not a substitute for medical care.

I'm closing this thread. Please do not start another. I hope you are able to focus on ways to address your issues, possibly a focused exercise regimen prescribed by a physio to evaluate your strength, as you continue any diagnostic processes and interventions recommended by appropriate specialists.

Best,
Laurie
 
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