On my way to being diagnosed...

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ny1987

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Here is my most recent thread from March, which is closed for replies. I had made another one probably 8 years earlier or so, shortly after things first started happening. I was told by several doctors and people on here I did not have ALS.


So everything in that thread is still relevant, and now the ball has finally dropped. I began to have weakness in my hand about a month ago...not perceived weakness but actually the inability to do certain things. I saw a neurologist last week and he did the usual finger spreading tests and whatnot and easily observed the weakness. He then performed a nerve conduction study which was normal, followed by an EMG. The EMG showed fibrillations/denervation in the muscles that are innervated by my ulnar nerve. The other muscles (I guess the ones innervated by the radial and median nerves) were normal. With no conduction block and my past history of restricted breathing pattern, elevated CPK, etc., I have essentially accepted the fact that I have neuromuscular disease. For the record, I also had a brain and cervical spine MRI roughly 4-5 months ago which was normal. My only hope now is given my symptoms began 11 years ago, that hopefully this slow progression continues.

I had all of my medical records sent to an ALS clinic with Columbia University and am hoping to get an appointment there within the next month and get formally diagnosed so I can start receiving any treaments, medicare benefits, etc.

My presenting symptoms up until the current hand weakness and dirty EMG have been very unusual for ALS. For those interested:

In May 2010, I went out for a run and noticed I could not take in a full breath as usual. This progressed a bit, and I have had several PFTs over the years, all of which have shown a restrictive pattern. I would say the progression has been very slow, I don't notice much difference now vs a few years ago.

Roughly in 2013 or 2014 or so (I don't remember exactly), I began having spasms in my urethra. This went on for years ultimately the muscle responsible for pushing urine out of the end of my urethra barely works anymore.

Then October 2021 the hand weakness and dirty EMG I mentioned.

I will also mention throughout this 11 year period I have had random muscle spasms and twitches all over at times. I will twitch for weeks at a time, then maybe no spasms or twitches for a month, then they start up again, etc.

So in short, a very unusual progression of symptoms but at this point my years of elevated CPK and other symptoms with a now dirty EMG and normal brain/spine MRI findings has me essentially 100% sure that I will be diagnosed with a neuromuscular disease. Given the strange nature of progression I don't know if it will end up just being ALS, or some other form of MND. I know there are sporadic versions of juvenile ALS that mention bladder control as an early symptom and symptoms before age 25 (for me it was 23), so maybe something like that. Who knows.

I will follow up when I have an appointment set at the ALS clinic with Columbia.
 

Nikki J

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By all means let us know what Columbia says. Fibrillations/ denervation is a vague description but happening in one localized area even if the pattern mimics ALS ( which is not clear from your post) there are certainly other more common causes so you should wait before drawing dire conclusions.
 

ny1987

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Thanks for the reply. I did forget to mention that the only EMG I had was of my right arm/hand, which was where they found the ulnar fibs/denervation and no conduction blocks. They didn't test anywhere else but I suspect they would find things elsewhere. I would obviously expect the ALS clinic to perform an EMG in multiple other spots confirming so. I just don't see how I could have all these other issues with the elevated CPK all these years and now this hand weakness and dirty EMG and have it not be neuromuscular disease (in conjunction with normal brain/cervical spine MRI which rules out a lot of other things)
 

Nikki J

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No one not you not me not even the doctors can predict what an emg not done will show. If they literally only did the one ulnar area then it is just unknown. However you do not seem to have a question and just want to state your own conclusions which you have now done. Let us know what Columbia says.

closing thread
 
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