Slowly progressive symptoms for about 5 years, starting at age 17. Confirmed by nuero, but no diagnosis. Any thoughts/knowledge would be appreciated.

bl1234

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hello, thank you for taking time to read this. I am currently in my second year of going through blood work, EMG, nerve conduction, ect. to find out what’s going on. I will list my symptoms year over year to illustrate the progression. I am only 22 years old and this issue began when I was 17. I know I don’t fall into the likely category for any nerve or muscular issues, but all I can say is my symptoms have been constant for 5 years day after day and my neurologist has confirmed these symptoms as real.

so, to begin (I’ll keep this as brief as possible) in December 2015 I began feeling fasciculations in my lower right leg, foot, and right arm, along with admittedly many other random twitches in my body. This was accompanied by mild atrophy of my left leg’s inner soleus muscle (from ankle to knee on inner leg, near shin) and the muscle behind my left knee, resulting in a hyperextension confirmed by nuero. as well as mild atrophy in my right lower arm and thumb. This was accompanied by mild stiffness In my right hand (phone occasionally slipping out of hands, hand feeling limp when hanging in air, ect) as well as mild weakness in left lower leg (walking felt different than usual, my gait slightly altered)

In February 2016, I got my first EMG, 3 months after first mild symptoms noticed. It came back clear, with a conduction block in right elbow (I only learned of this months ago when reviewing Past results) symptoms persisted.

In 2017, I began feeling a progressive decrease in muscle mass in left leg soleus muscle, and my leg would shake very noticeable if weight was applied to it while sitting. Walking continued to feel awkward, and I began shifting weight to outer left leg, which began to gain muscle as the inner leg decreased. My right arm stayed somewhat stable.

2018, things started to speed up. My right shoulder began to twitch repeatedly daily, with two specific muscles (not sure ofthe name of each) atrophying and resulting in my right arm to crack and pop when moving it, partially out of socket due to atrophy. My left lower leg continued to atrophy, with other muscles beginning to take over the work of the soleus muscle. My lower thigh, right above my left knee, began to twitch and weaken as well. Definite and obvious difference In strength and size between right and left leg. Also, my abdomen began to twitch for the first time, and my breathing first began to feel slightly off. Not totally out, but slightly weakened.

In 2019, my right thumb became much less toned (the muscle in the palm of hand, not the outer thumb) and I experienced discomfort and occasional cramp/fatigue when writing. I got a second EMG in August 2019. No signs of ALS, according to the conductor of the test. I never saw results, but he told me on the spot it was not ALS. At this point I’m like. Enough. I’m done thinking about this. Please don’t give up on this post yet, I am almost through.

in January 2020, I begin to feel my First twitches and decrease in muscle in my right soleus muscle, exactly the same pattern as my left leg in 2016. I also began getting twitches in my left thumb, whichhas now mildly atrophied and decreased in tone to the point that it’s nearly the same as right thumb. My right soleus leg muscle is still larger than left, which is totally unseeable when flexing it (it used to extent way out of leg) but the right leg is where the left leg was in 2016. All the first symptoms I felt in left leg and right arm in 2016 have now shown up in right leg and left arm. Also, my lower back on my right side has atrophied and twitches constantly. I sometimes subconsciously lean to my left when sitting due to weakness in right back. I also have noticed my breathing is having issues. I cannot breathe as deep as I used to. This is daily, not just a random thing. I get constant twitching in my upper stomach/lower ribs, which feels like diraphragm. This scares me most.

I have an EMG on June 17, And I’m not sure what to think now. My doctor sees my symptoms. It is definitely progressive, but very slowy, Rate of about 3 new symptoms per year.
my blood tests in 2019 first showed signs of celiacs, then they said “neverMind” now my blood tests from last week show a slight high level of RF (rheumatoid factor) this does nothing for me. I am hoping this could be MMN or something treatable.my neurologist never ruled out ALS as a possibility, but 2 clean EMGs would point away. This third EMG should confirm this, hopefully.

Overall, my point is this: I have constantly worsening symptoms, albeit very slowly progressive, which line up with ALS atrophy, twitching and weakness, And I have possible diaphragm spasms. I can’t tell if my tongue is twitching but I feel twitches under my throat and it’s caused some lack of muscle in my left neck. I know I’ve bombarded with symptoms but this is so depressing to me and it clouds my life. I know you all are going through so much and I apologize if this post is unwelcomed. I just don’t know what JALS (juvenile onset) looks like and not sure if this very slow progression has ever been experienced or heard of by anyone? Is there any chance it’s ALS? Or should I be looking toward other diagnoses. Thank you so, so much for reading, and God bless all of you strong individuals.
 

affected

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Nup, not a chance of this being ALS is my thinking. Whatever it is, hopefully your doctors will figure it out. Please report back after the EMG, after all you have less than 3 weeks to wait for it now. We can't speculate on years of clean EMG's any more than that.
 

bl1234

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right, I know the clean EMGs point away. It’s just the slowly progressive muscle atrophy with constant fascicultations in those areas. Slow, but persistent is what scares me. Thanks for your response.
 

Nikki J

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JALS is usually FUS and fast

i hope you are seeing a University based neuromuscular doctor who can look at the differential thoroughly.
 

bl1234

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some questions about my EMG which is less than 2 weeks away:

1. I hate to even ask this one because it by nature sounds like I’m just doubting all doctors but that’s not the case - is it possible to conduct an EMG “wrong”? I don’t even mean wrong in the sense that they don’t know what they’re doing (they obviously do) but is it possible to miss the areas that are giving me issues? For example if I’m experiencing twitching and atrophy in a specific muscle in my shoulder, if the needle isn’t poked directly in that exact muscle will it come back as clean even if that muscle actually would’ve shown issues had it been poked?
2. Can EMGs be conducted on the tongue and diaphragm? And are those as painful as they sound to have done? Would a doctor conducting the EMG allow for those areas to be tested by request?

thanks so much in advance for any answers. I just want to go into this with as much confidence and preparedness as possible. I walked away from my previous EMG last year instantly regretting not being more specific about what I wanted tested.
 

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Doctors do all these years of training to know what to do. YOU don't tell the doctors what you want tested, you have no medical training. I mean that respectfully because you really don't know anything about ALS or what they are doing.
They don't have to test the muscles you might think are the right ones, they know what to do. Get a grip please, you don't have long at all to wait and can choose to spend that time productively rather than this way.
Let us know the results, until then this is not a good place for you to be.
 

bl1234

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I did not mean that as to say I was doubting the doctors. I just wanted to be sure that I knew how EMGs work so that if I needed to be more specific about where to test, I could communicate that to them so as to get the most accurate result possible. I am only getting this EMG because my Neurologist thinks it is necessary as he is concerned about my symptoms. Thank you for your answer and I will refrain from posting on this forum until after my EMG results.
 

Nikki J

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1 ALS by definition shows widespread changes on emg. Also the doctor knows by looking at you what muscle(s) to test if there is truly visible atrophy or by finding weakness or by reading your history/ exam. After 5 years IF it were ALS and with the multiple areas you report as affected it would be impossible to miss.
2 yes tongue can be emged. There are other less uncomfortable areas that give just as much information on the bulbar area. It is technically possible to emg the diaphragm. it is extremely rare to have it done
you do not need either of these areas done. you report symptoms in your extremities. If a symptomatic area is ok you don’t need to have the entire body done.
 
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