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