Hi guys,

It's good to meet all of you although I'm obviously sorry you're here (given it presumably means you're having health issues). My name's Will and I've been having yet-unexplained health problems for between 2 and 3 years which I would be grateful to get your thoughts on.

Beginning in my early 20s (I'm 26 now), I have experienced progressive decline in my muscles and loss of function (as well as many other supplementary issues) but while my symptoms are stark, so far I have yet to get a definitive diagnosis. I've had GPs suggest I may have ALS or another similar condition, but I have seen two neurologists now who told me I do not have it. Unfortunately, however, they are unable to tell me what I do have, all the while my symptoms continue to get worse leaving me progressively disabled. I am really struggling with the uncertainty of my medical situation, and frankly, doubt their assessments. Getting weaker with the prospect of ALS hanging over me is really straining my mental health. I'm seeing a counsellor but that's not really helping, since the problem is physical rather than mental. I appreciate that some advice over the internet is not a substitute for the opinion of an actual doctor but I am at a loss, and at this point need all the input I can get!

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Here is a timeline of (some of) my symptoms:

**August 2018:** Suddenly lost the ability to burp. Muscles at the back of my throat go slack and cannot be operated. I begin suffering from excessive, unprompted yawning and mini-hiccuping, between 50 and 200 times a day.

**February 2019:** Begin having eyelid twitches and spasms in my jaw. I had never had these before but thought little of it. All the while I am suffering from progressively worsening bloating and slackening of what are presumably my core muscles.

**June 2019:** The twiches have continued and spread to my cheeks and chin. On June 17 2019 I suddenly lose the ability to swallow. I cannot trigger the swallow in the normal way. When I swallow the muscles are spasming and uncoordinated. Several muscles below my chin seem to have gone slack and disappeared. The sensation is the same as I had when I lost the ability to burp. The constant twitches spread to my neck and abdomen.

**July 2019 - Present:** The twitches spread to my arms, legs, buttocks and are now all over my body. They went through a period of being really constant but recently have somewhat died down. Across this period I have experienced increasing weakness throughout my body accompanied by wasting in my core, chest, arms, legs, hands and feet. I can no longer chop vegetables one handed and struggle with two. I can no longer do a press-up (this has never happened before in my life) since my arms, especially the left, shake violently and give out. Seconds after I smile my muscles will twitch all over my face and fail. I am constantly fatigued and struggle to do day-to-day life. In the past two months I have begun having obvious difficulty speaking accompanied by worsening weakness in my lips and a change in the appearance of my tongue (wasting at the sides). The declines sometimes plateau for a little bit but are mostly progressive and permanent.

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**My experience with doctors:**

**February 2021:** After being bounced around my ENTs and other specialists who credited my symptoms (mostly) but couldn't find an answer for my problems I was finally referred to a neurologist early last year. They observed I had tremours, twiching, weakness and brisk reflexes. However, they thought my weakness was on the threshold of that caused by deconditioning versus clinical. They did an EMG which detected fasciculations but no evidence of diminished recruitment or chronic deenervation. I was told it was unlikely to be ALS and sent on my way.

**November 2021:** Unfortunately, as I say, things have continued to decline since then and after recently changing GPs I have been reassessed. The GP saw clear signs of clinical weakness - a relief in a way, since it has been plain as mud to me that I am abnormally weak for a very long time - and suspects given my history possible motor neurone disease.

**February 2022:** I saw an ALS specialist in London, expecting a diagnosis, but they said they did not think I had ALS. Despite very clear decline in my muscles (which I have picture evidence of) and what I would swear on the cross is quite severe tongue wasting and other atrophy, the neuro thought I looked healthy. I should have been happy at this, but actually I am baffled: I am unable to workout due to weakness, cannot rock climb, play golf (due to muscle failure), normal activities I have never had difficulties with before, and GPs and physios detect significant weakness. I feel the neurologist made a mistake.

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**Differential diagnoses that have been ruled out:**

**Spinal issues -** I have had several X-rays of my spine and a very detailed standing MRI of my neck since originally I wondered whether instability was causing my symptoms. While lax ligaments were found, suggestive of a possible connective tissue disorder, there were no signs of instability.

**Myastia (sp) Gravis -** I tested negative for general antibodies in a blood test. Recently I was tested specifically for MG antibodies and again the test was negative. In addition, I do not have muscle weakness in the typical MG places, for example, I do not have great difficulty pushing up from chairs. My weakness and wasting is now far more widespread, affecting every area of my body.

**Muscular Dystrophy -** I had only a normal level of creatine kinease (sp) in my blood tests, which I understand points away from MD. Also, the fact that I have had no issues with my health at all previous to the burping problem in 2018 suggests that a genetic condition is unlikely.

**Hormone problems -** Interestingly, I have tested with consistently low testosterone on blood tests (average 7.5 where 9-28 is normal). However, from research, it appears that slightly low testosterone has never been reported to cause the issues I am suffering from. Generalised weakness? Yes. Actual knocking out and wasting of muscles of the kind I have?

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I appreciate this is a bit of a long and rambling post, but if anyone - ideally someone with a link to ALS but not directly suffering from it, since I do not want to burden sufferers - could give me some input as to my situation, I would be very grateful.

**Given my progressive symptoms and the apparent absence of a good differential, do you agree that I am right to be worried that this is ALS?**

**If it isn't ALS, what realistically could this actually be?**

Thank you for your time and best wishes,

Will

Anyone read this and have any ideas?

Since posting my condition has continued to slowly worsen. It's difficult to quantify exactly where I am in terms of mobility and fitness. I can still walk normal distances but am getting very tired and struggling when going up hills in a way I didn't before. My swallowing is still slowly worsening but food can go down. Speech is worse than before - this is new - but still sounds pretty normal when I talk for short periods. I have to clear my throat an awful lot though. My arm muscles have weakened quite a bit so they now shake, like I'm doing a hard rep at the gym, every time I put even minor body weight on them, I get a burning sensation (like when working out) and quick fatigue while doing things like typing. I am having more and more difficulty carrying things like heavy plates of food.

I continue to have other issues, including core weakness, facial muscle weakness (this has got pretty bad now) and what appears to me, and I really am certain of this, to be muscle wasting all over my body. My hands have recently wasted out quite a bit, making my tendons much more prominent than they used to be. The list goes on.

To repeat, does anyone have any ideas what could be causing all this? The only thing that jumps out from the literature - and from reading lots of anecdotal accounts - is ALS. However, while a GP worried I might have this, an ALS specialist recently told me he could see no signs. Could he have made a mistake? I am an unusual case in that my symptoms were triggered by a reaction to medication which also caused changes to my skin and muscle texture which make wasting more difficult to spot in me than the average person - as the skin hangs puffily.

Oh, and I should add, I can also no longer tap my feet in quick time. It feels like a muscle has just disappeared and can no longer vibrate quickly on my right foot and my left big toe has pretty much stopped working (this has been a problem for a while, I just haven't mentioned it because frankly, I've had issues with so many parts of my body that I struggle to include them all!).

Thank you.

Hi, Will,

I have read your posts. Since ALS seems to have been ruled out, isn't your primary care doctor thinking of a referral to a GI specialist? Losing the ability to swallow and having to put up with so many mini-hiccups every day must be difficult.

Or maybe a different neurologist? Some doctors just aren't very competent, and maybe you have been unlucky. You're very tired of being bounced around from doctor to doctor, I'm sure, but sometimes you just have to persist.

I'm sorry I can't provide any more precise answers for you. I hope that you can find some ways of stopping your symptoms. While you're waiting for a diagnosis, you might want to try tinkering with your diet and your exercise and sleep routines to see if any changes in them might help. And by all means look carefully at any medicines or supplements you're taking. They can cause a boatload of problems.

Hi Agate,

Thanks for taking the time to read my posts and reply. Unfortunately, I am not taking any medications or supplements, and haven't for some time, so that's not the issue. I also saw several GI and throat specialists when I was initially having swallowing problems. None could spot any abnormalities nor did MRIs or X-rays reveal anything unusual; a few thought I was therefore being a drama queen and just suffering from issues caused by regular old acid reflux (since shown to be incorrect) while one thought it could be a neurological issues. All washed their hands of me after ruling out structural abnormalities. I don't think the one who suspected a neurological problem even referred me to a neurologist himself!

I think you're right that I've just had a bad run of doctors. On the face of it the guy who examined me for possible ALS in February should have been pretty reliable since he specialises in it and also has an interest in early diagnosis. Yet I left with the lingering feeling that he had missed and/or breezed over several really quite important things, and my issues have since continued to get worse. He told me I should expect to get better and although he didn't say so explicitly, seemed largely to chalk up my issues to anxiety and 'natural changes'. This also left me feeling very uncomfortable. I know noone in my family, friends or otherwise who has developed the level of weakness, wasting and exercise intolerance that I have as a result of 'natural changes'. When was the last time a dude naturally lost the ability to chop hard foods or do a press up or pull himself out of bed at certain angles (assuming no massive lifestyle changes, which I haven't had) in his early 20s? It doesn't make sense.

Sorry for slipping into rant mode there. As you can probably tell, this whole situation is proving very difficult. The best way forward does seem to be to pool together my monies and find another specialist, but I might wait until my symptoms are (even) more flagrant, because I don't want to be examined again and just told I'm not weak enough to meet their threshold and sent home.

All best,

Flex

If you haven't already found this, it gives a rundown on other disorders with symptoms and signs similar to ALS. It also mentions seeing a neuromuscular specialist, and if you haven't done that, it might be worth looking into.

https://www.massgeneral.org/neurolog...diagnosing-als

Hey Will,

I'm sorry to hear that you've had these terrible symptoms, minimal help from the NHS and with no real answers. These are awful things to happen to a young man. You've had it rough, and I feel for you.

The NHS have treated you shabbily.

I see your EMG was done over a year ago. Surely a second test is indicated to check progress given the nature of your symptoms.

I am not a doctor, or someone capable of diagnosis, but you have invited speculation about your life changing symptoms. I feel it is in your interest that I do so, though many may feel that I should not.

I wonder if you have some kind of Large Fibre Neuropathy. Possibly Demyelinating Polyneuropathy or Polyradiculoneuropathy. This is also known as CIDP. Some of your symptoms certainly fit. I will let you do your own research.

I urge you to do the following

1. Get another EMG. This is to rule out Large Fibre changes since your last test.

2. This is the most important. The diagnostic tool I think you require is a Lumbar Puncture and the associated blood tests. This will give your Neurologist a much better picture of your condition and a potential treatment plan. I can't believe you have not been offered this.


Best wishes,

Atty

Hi Atticus (your real name or a Harper Lee reference?),

Thanks for replying and for your input. No need to worry: I asked for it and am very glad to hear your thoughts!

So, in order... I should have added to my original post that I have actually had a follow up EMG recently, however I did not mention it because there were some real concerns about its reliability. The chap who did it was running late and did it at pace and - frankly - quite sloppily, glossing over what appeared to be consistent spontaneous activity and moving very rapidly through the test without a lot of care. He also confessed that he was looking for some very particular things, namely I believe evidence of myopathy, so wasn't best placed to detect anything else.

All this explains why I am less than convinced by his claim that all was well. Although he did spend quite a lot of time testing my neuromuscular junction and nerves. I believe that CIDP was fortunately/unfortunately (?) ruled out, and there was no signs of myopathy either, nor any signs of motor neurone disease. Those results would be reassuring for me, but given my symptoms are continuing to progress (just the last few weeks I have had another slide, now demonstrating difficulties getting up from chairs), it hasn't really provided any clarity. ALS, in particular, can often be missed by EMGs...

I have not been offered a lumbar puncture. However, I have had a series of blood tests, mainly to rule out things like MG and to scan for evidence of muscle breakdown, indicating myopathies. These all came back negative.

Thanks again for responding to me. I will look into the lumbar puncture and raise it the next time I see a doctor. At the moment, my plan is to reschedule another GP appointment and see if I can get referred to some specialist neurology teams on the NHS relatively soon for a reevaluation. It's potentially a bit of a Pyrrhic move - if it is MND or a serious myopathy then there is little that can be done anyway - but as a matter of principle I wish to know what's going on.

All best.

Hey Will,

It's extraordinary that such sloppy practice is tolerated. When I had my first EMG the practitioner reported that I was cold so the results may not be valid. No hint of a quick follow up test to check. The neurolgist seemed comfortable. It was a beautiful summer's day too.

I still think a lumbar puncture test is indicated for you, as a diagnostic tool.

Best wishes, and keep us updated,

Atty