Male, 26 years old, caucasian, 75kg weight, height 6 foot

I'm a man in my mid 20s who has been beset by yet-unexplained health issues for between 2 and 3 years. During this time, I have experienced progressive decline in my muscles and loss of function (as well as many other supplementary issues) and while my symptoms are stark, so far I have yet to get a definitive diagnosis. Now, unfortunately, my local doctor tells me they think I may have ALS. While I am waiting on an appointment with a neurologist to have this confirmed (either ruled in or ruled out - frankly, I need clarity), I am really struggling with the uncertainty of my medical situation. Plainly, stuck in limbo is better than being fully diagnosed with ALS but getting weaker with the possible diagnosis hanging over me is really straining my mental health. It is, and has been for the past few years, torpedoing my productivity. I'm seeing a counsellor but that's not really helping. So, I'm hoping to get some answers from this forum. I would appreciate it immensely if someone with knowledge of neurological conditions, particularly ALS, could spare the time to comment on my situation.

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Here is a timeline of (some of) my symptoms (the ones that are most relevant for ALS):

**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. I have been referred to another neurologist but unfortunately it could be another few months before I see them.

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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?** (For this please assume that I am accurately reporting my symptoms and the weakness and wasting is similar to that seen in ALS rather than something that might be 'in my head' etc. Thank you)

Thank you for your time and best wishes,

Flex

Welcome FlexMissile99. Someone will be along.

Hello glad you were able to share such detail. I just remembered my closest friend's journey with her mom as she declined and they made many trips to ER only to be sent home. That’s here in Iowa. After 3 years of that they took her to a University hospital in Texas and her Lymphoma was diagnosed. Locally I was just told by my long time neurologist that has always given me Mestinon that I don’t have MG. But about 15 months ago Pulmonologist at Mayo Clinic showed my last 2 chest X-rays and said My paralysis is getting worse fast affecting lungs and it may be ALS. Wow major whip lash! My Mestinon is a Mira le to me. It gets me across the room and sometimes out the door. Oh and wow it allows me to BREATH! Before steroid shots recently it was only thing that helped me breath. Sculptor 44

Hey FlexMissile99,

I am sorry to hear that you are going through that. Sculptor44 mentioned the detail you have of your symptoms. I think that it is good to keep a record of that sort of thing (if you know what it is or not). I believe it helps with treatment. I am not a doctor, nor do I know if this information will be helpful. You described how you were having muscle twitches and I found this article on muscle twitches and some of the causes of them.

[I was unable to add a link, but if you use a search engine and put in: "Muscle Twitch (Myoclonus): Types, Causes, Diagnosis & Treatment" and if something from Cleveland clinic came up and that is what I am referencing] **I have no ties with them, but it seemed like a reputable source.

Perhaps, something in the article will be beneficial to you.

Flex, I hope that a doctor does accurately diagnose what you are going through and give you an effective treatment to stop it.

And lastly, I hope it is not this, but has “gullain-barre syndrome” been ruled out?

Johnn

If you do find out and are comfortable sharing, please let us know.

Thanks for getting in touch John. Unfortunately, I'm based in the UK and don't have the funds to travel so US clinics are not an option. I certainly share your hope that I will be diagnosed soon and that it is something treatable or else not immediately fatal, but I must admit I have my doubts - the signs look ominous. I think given that my issues are not localised to the hands and feet like normal in Gullain-Barre, and that I have tested negative on several autoimmune tests, it is unlikely to be this. Sadly, the only things that seems to fit the symptoms is ALS, but I have been told this is very rare at my age, and that my relatively slow progression and lack of severe disability at this stage augurs against this (although young people do tend to have slower progressions).

Flex

Welcome, FlexMissile99 and Johnn!