Worried about ALS. Inconclusive tests

[AdamH1987]

Hello, I’m am writing in this forum because I am concerned I may soon be diagnosed with ALS.

This past summer during work and regular activities such as gym, hiking, etc. I noticed my muscle were feeling more fatigued than usual. I didn’t think anything of it. I also started to notice some pain in my elbows and hands (particularly thumb knuckles). By the end of August noticed my hands and feet started to go numb pretty regularly as well as. I went to my doctor and they suggested I go about ruling out MS.

Somewhere shortly after I started experiencing widespread fasciculations which I still have. Eventually, after multiple mri, X-rays, blood work, and spinal tap, MS was ruled out. As were many other diseases. In late September I had an EMG/NCV test done and it was ruled normal. The only thing that showed up on the emg was possible ulnar nerve entrapment which was causing my left pinky and ring finger to go numb.

Naturally throughout this process I have been battling bad anxiety. I visited 3 different neurologists during the process and they all said they don’t suspect ALS. They recommended I get back to my normal routine and to talk to a therapist which is what I did. However the symptoms never subsided.

I decided to try one more neurologist who was recommended to me because he specializes in mysterious neuro problems. Upon meeting him the first thing he said to me was based on my CK levels and my emg that it’s not ALS. They did a skin biopsy and extensive blood labs looking for neuropathies, auto immune, etc. Everything was normal except for an antibody called “cn1a”. This antibody typically indicates inclusion body myositis (ibm).

Next we did a muscle biopsy of my right thigh and it revealed I had minor atrophy. However I can’t say I notice any visible atrophy/wasting in my muscles or hands. There were no inclusion bodies, no mitochondria abnormalities, no inflammation, and no necrosis in the biopsy and it was deemed inconclusive.

Now I am doing a nerve biopsy to see if the atrophy is neurogenic and my anxiety is through the roof. I am just curious what your thoughts might be about my situation.

Thank you all very much for taking the time to read this and any input would be greatly appreciated.

 

[ShiftKicker]

Hi there-

It sounds like you've had a stressful few months. Not sure what the problem might be, but you have visited multiple neurologists and had an EMG- all of which, along with a clinical exam by each neuro, has cleared you of ALS. You have not shown them anything that would make them consider ALS. However, you have been provided with results from electrodiagnostic testing that indicates an issue with ulnar nerve entrapment (a pinched nerve) and some other results which tentatively points to a non-MND issue.

It's really hard not having answers, and the instinct is to search online. Unfortunately, there are conditions that are hard to pin down because they are rare, and sometimes it can take years to figure things out. Your current neurologist is doing an excellent and thorough job and has cleared you of ALS and is looking for another cause.

With regards to anxiety, you deserve support while you work with your doctor to find the cause of your symptoms. Please consider finding a therapist, counselor or other mental health professional to help you here. They can provide you tools to help reduce anxiety while you wait for test results, etc. This is not a dismissal of your physical symptoms, but a recommendation you find someone who can work in partnership with you so you aren't left flailing around looking for answers on your own and increasing your anxiety as a result.

Please take care

 

[AdamH1987]

@ShiftKicker thank you so much for your reply! Yes it has been really rough. I was out of work for two months bouncing around from specialist to specialist. I’ve been so confused by everything. I admit when I had the emg done and it was basically normal I felt a brief sense of relief. However, when the symptoms didn’t subside I got worried again. One thing I should mention is that though the muscle biopsy was inconclusive, it listed some possibilities based on the abnormalities in the tissue: two were autoimmune, and the one other was possible neurogenic atrophy. My doctor ruled out one of the autoimmune but suggested the nerve biopsy for potential neurogenic problem. This freaked me out because I thought I was in the clear because of the CK and definitely EMG. At least that’s what I was told multiple times. I have my wedding coming up and I’m supposed to be looking forward to that but I’m so stressed. This whole situation has my life in a 180. Lastly, I am headed to see a therapist next week. Again thank you.

 

[Clearwater AL]

Adam...
You decided to try one more neurologist who was recommended to you because he
specializes in mysterious neuro problems. Upon meeting him the first thing he said
to me was based on my CK levels and your EMG that it’s not ALS.

That's two. It's not ALS.

You said, "I have my wedding coming up..." that says a lot about your Health Anxiety.

I hope other non ALS issues get resolved soon. But... stop being concerned
about ALS, it will help and make things go faster getting you to a healthy life and
hopefully before your wedding.

 

[AdamH1987]

@Clearwater AL I agree I am definitely having health anxiety, but it’s because something is wrong. They just haven’t pinpointed it yet. The main reason I’m still concerned about ALS is because they didn’t find what they were looking for in the muscle biopsy. I asked my doctor in an email about ALS and if he still thinks I don’t have it. He didn’t really say yes or no. He just said “the biopsy wasn’t 100% diagnostic of anything and a nerve biopsy will determine if it’s neurogenic”. That statement alone was enough to make me scared all over again. In addition to that, I still have symptoms like fasciculations, muscle fatigue, and pain in my hands.

 

[Clearwater AL]

Adam, what else can we say here? You've admitted to your Health Anxiety.
So, until you can post a diagnosis there's not really anything more
that can be accomplished by posting anymore thoughts or symptoms.

Health Anxiety is a spiraling cycle that keeps you concerned on a disease
at this point two Neuros have indicated you don't have.

Until then...

Again, I hope you get the help you need before your wedding.

 

[AdamH1987]

@Clearwater AL I apologize. I’m not trying to waste anyone’s time. I have genuine concerns and I was just reaching out to get some advice. Thank you

 

[lgelb]

You're way ahead of yourself. Nerve biopsies are not important in diagnosing ALS. They can help to evaluate patients with a wide range of possible problems, from tumors to bacterial infections, almost all of which are way more treatable than ALS.

So the very fact that they're recommending a nerve biopsy (and you have every right to know what they are looking to rule out -- just ask), means that ALS is not on their minds.

 

[AdamH1987]

@igelb thank you for your input. I believe I’m having the sural nerve biopsy. This is not used for ALS or other MND? I reached out to my doctor but he was very vague with his reply.

 

[lgelb]

No, the sural nerve is a sensory nerve. ALS is a disease of the motor neurons (the cells that make up the motor nerves that make muscles move).

I would read this summary for the kinds of things they may be looking for, but if you don't get your own answer to that question, I would not schedule until you do.

As you can read at the same link, the biopsy unquestionably causes damage and pain that can linger, and it's not something to do just because someone for reasons you don't understand thinks it's a good idea.

 

[AdamH1987]

@igelb thank you for sending me this link. I did not know a lot of this information. Im going to call my doctor to see if I can get more of an explanation as to why he is recommending this procedure.

I want to thank all of you for taking the time to reply to me.