Very gradual scattered muscle atrophy/denervation, and sense of weakness, lately worsening

[Martin7]

Hello,
42/M. I have something going on for sure, but doctors still don't have a diagnosis for me. Apologies for the length, but I want to be thorough. Has anyone else here started with very very slow strength decrease and muscle atrophy (multiple years), eventually leading to ALS-type symptoms and diagnosis? Here is where I'm at (as of Aug 2022), and quite worried of course...

I was very active in sports for years, as it seems many here were at one time, probably doing something 5 days a week, regular rock climbing for years, biking, running, soccer, and regular body-weight exercises on high bar, rings, etc., and had excellent strength all around. Through about 2018/19-ish, I noticed decreasing reps in all my exercises (like a 50% decrease despite regular workouts), but could still perform ok, up until covid showed up in early 2020 and closed everything, and I got much less active that year. I also noticed both pecs had been slowly atrophying from the center outward since maybe 2018, with the center half of the muscle entirely gone by 2020, but strength was still reasonable in 2020, doing 40 pushups for example (but down from 80), and I felt no sensation of weakness.

Around early 2021, I noticed a gait change, that I had reduced toe push on my right leg, and found my right inner calf shrunken and mushy (medial gastroc and soleus, according to my doctor). By mid 2021, I couldn't lift my right heel at all if standing on one leg. This was my only other symptom until early 2022, and I could still run and play sports if I braced the right foot heavily, and stamina was fine. However, I noticed in early 2022 upon resuming some of my old workout exercises, I was now at only about 10-20% of the exercise reps at my peak (like, I used to do 18 pull ups, now could do 2 barely, and maybe 15 pushups). My right heel by then was pounding down instantly on any step. Besides my now-missing right calf, my legs still felt strong enough into June 2022 when running and biking, with good endurance, though sprinting speed was way down.

I had an EMG in Jan 2022, which showed denervation in my right calf, but all else normal. I soon started 2 months of physical therapy for the calf (EMS), and pec exercises, with no improvement, and the medial calf couldn't contract at all. I also had repeated blood tests, which showed consistently elevated CK (400-1000), elevated Aldolase, and mildly high liver enzymes (which had been so since ~2020). I had a lumbar MRI, which came back normal, somewhat to my surprise since I had a 12 year history of very occasional bilateral/alternating sciatica pain, which I was "hoping" that's all this was. I also had a cervical MRI, which showed I have a congenitally narrow spinal canal, and some bulging C4-C7, which may be impacting the nerve, but they can't tell for sure just by imaging. I have no pain symptoms.

Into early 2022, I noticed some shoulder weakness on the left side, and also visually see both forearms have been getting thinner especially on top, left more than right, but with grip still very good (tested ~150lbs on each hand in Feb 2022), and overall strength was still ok - I didn't feel "weak". In April 2022 my doctor noticed substantial scapular winging on both sides, with the left shoulder-blade area muscles worse and noticeably wasting away. I had a second EMG in mid-2022 to look at my left arm and shoulder and leg, and it came back borderline ok, nothing to diagnose with, but noted decreased recruitment in my left bicep and upper forearm, and my left calf seems to be very slowly following the atrophy path of the right one. Thinking possibly muscular dystrophy, they did a thorough genetic test too, but it showed no "certified known" mutations for disease, but did find some novel just-in-me mutations in 3 genes that are associated with different varieties of limb-girdle muscular dystrophy, and no ALS genetic markers

However, in just the past month or two, I'm feeling subjectively more fatigued in both upper legs and hips/butt, and both legs often feel "heavy" in the morning, and lately often throughout the day when I first stand up. Leg strength is still there on demand, like I can still do 2-3 one-leg squats on each side, but very fatiguing. Interestingly, after exercising gently a bit, like biking a few miles, my legs start out feeling quite fatigued but after a little while actually feel better, like almost back to normal for a couple hours - this seems unlike ALS, I think? On the other hand, a few mornings ago, I got out of bed and stood up, and promptly fell down - first time ever - and it happened so fast, I can't tell if my right leg gave out or if I lost my balance, it felt like both. Otherwise, my balance is generally still quite good.

For the past month, my whole left arm has an increasing odd sense of weakness, heavy objects feel heavier vs my right arm, and it just has an odd "dead/numb" feeling that won't go away - not numb to touch, but like deep internally in the muscles, but if I need strength, it's mostly there if I mentally push it, but I have to focus to overcome that weak sensation, or else I casually drop things. Visually, my entire left arm has shrunken visibly versus my right arm, as well as the left trapezius. Hand grip still feels decent, but my left forearm is getting easily fatigued and a bit sore if I use it much, and is even feeling achy tonight just from typing all this. The left arm is also getting a little twitchy from time to time, especially when it gets fatigued, as are some back muscles on occasion. Also, my left-side neck muscles have been feeling almost continuously and increasingly fatigued the past month. I have no muscle stiffness though.

And most recently, a very odd and scary thing happened just the other morning. I got up to use the bathroom, no problems, walked back to bed, laid down flat on my back like usual, and within just a few seconds, both of my arms went almost fully dead (zero pain), I could barely lift or move them, and felt a mild numbness in my outer 2 fingers on both hands, and a similar sense all the way down both legs. I slowly managed to roll to my side, and the dead arms slowly came back until I could push myself to sit up, and nothing related has happened since. I'm guessing this sounds like spine/nerve impingement, and I hope that's all it is, but can anything like this ever happen in ALS early on? I'm seeing my spine doctor this week about it. On the whole I'm still 99% functional, but symptoms seem to be piling up lately.

Overall, my symptoms feel like a convoluted mix of spinal stenosis, early muscular dystrophy, and early ALS, with symptoms for and against each of them, and my neurologist still has all everything on the radar, but for now is in wait and watch mode for symptoms to mature one way or the other, though things seem to now be accelerating the past month. Thanks for sharing your thoughts.

 

[Nikki J]

This all sounds very difficult and frustrating. I understand that your question is for similar experiences. I can only say for that not for me or my family although as group we are mostly very slow progressing.

i do hope that you are being followed in a major neuromuscular center and I would also travel to another for a second opinion Good luck

 

[lgelb]

I would have thought you would have had a muscle biopsy by now. Like Nikki I would consult a major center. It is possible with newer 3D technology that they could get a better picture of the narrowed spinal column than your MRI did, and there are study modalities that better visualize the muscles by imaging as well. I don't see ALS in this.

 

[Martin7]

Well, time for an update after my doctor follow up last week. Unfortunately, I still have no more clarity on my condition, but on the plus side that still keeps hope alive, mental state of worry notwithstanding. However, now with 3 neuro-specialists having reviewed my case, they have 3 differing opinions as to what's most likely or unlikely, and I'm scheduled to see 2 more in the next month or two, a neurosurgeon in the same group, and another independent neurologist. One is still most suspicious of stenosis/radiculopathy, the second feels it's most likely a quite rare muscular dystrophy, and the neuromuscular specialist is still quietly leaning toward ALS or some variant and just waiting for the other shoe to drop.

The last doctor's departing advice was a little disconcerting, sounding more like a bucket-list suggestion, "Go out and live all you can, and do whatever you want to do without restriction, and we'll see you in 6 months, or if something changes." In short, they all note that the only diagnostic tool remaining is time, which will make it clear one way or another as things progress, so I'm on a very nerve-racking watch and wait protocol. Honestly, I couldn't even sleep a wink the next night, that uncontrolled hollow pit in the stomach feeling showing up with every other thought.

But, all 3 diagnosis options have clues pointing against them too. And beyond these 3 options, it feels like there is nothing else plausible remaining.

For spinal stenosis/radiculopathy, something like 98% of patients have some kind of pain or tingling or sensory effects, while I have none of that. Plus, what are the odds of having bilateral nerve impingement of both the cervical spine (with rare back/pec/shoulder atrophy) and bilateral lumbar spine stenosis (with very rare bilateral calf atrophy)? Each alone is a one-in-thousands case. Although, I did have painful bilateral sciatica for years, so that can still explain the calves. And, I just had a new cervical MRI 2 weeks ago which noted more findings, namely disc impingement, and foraminal stenosis on 3 of my neck vertebrae, and particularly the C4-5 showed "moderate" on the right side and "severe" on the left side, and this happens to innervate the upper muscle area that I'm losing (bilateral scapular area worse on left, and pecs, left shoulder, some left bicep). So that can still potentially explain it. But, I had the same finding on the C2-3, which affects head muscles, and those are symptom free. My doctor noted some people with worse MRIs have no symptoms, and some with less findings have worse symptoms. So, basically no one knows, and recommends wait and watch, no surgery, unless for advancing debilitation or severe pain. A muscle biopsy he said probably wouldn't add much more clarity, but my next appointment is to better judge this as a diagnostic option.

For muscular dystrophy, per my genetic test results, one specialist believes it is some rare variant of Emery-Dreifuss, which is like a one-in-millions case. A side note, that diagnosis comes along with heart muscle atrophy, which is often noted as the first symptom, but I had a complete cardiac workup 2 years ago at 40 which showed everything is perfect. But, the unusual scapulo-peroneal muscle atrophy pattern can fit this diagnosis, plus I have steadily elevated CK (400+, like 90-some percentile high for ALS) and high aldolase, which support a muscle disease as a root cause, along with the found rare genetic mutation.

And, that leaves ALS or some variant. But, from all I've read, it seems particularly unusual to see muscle atrophy begin and progress proximally before any notable distal extremity weakness or atrophy, like weak fingers or foot drop, along with no bulbar signs. I do have the right calf atrophy and measured denervation, and the past few months the left calf too has become mushier and a bit weakened, but I can heel walk all day and have no foot drop. I read a study too which noted that something like 96% of distal leg onset ALS cases have consistently notably weaker dorsiflexion than plantar flexion, and I'm very much the opposite right now. Plus, my balance remains great, my stamina is still good. My hands are still strong and normal. My doctor last week did a short evaluation for weakness, and said that he'd call me entirely normal based on the test, if he didn't know my other symptoms. And, it's now 16+ months since I couldn't lift my right heel (one-legged that is, can still lift it two-legged), and longer with the pectoral atrophy (which was really the very first symptom I ever had 2+ years ago), and I suspect ALS would have advanced itself further in this time if it was the reason? Plus I have the pattern of atrophy-with-strength, and not weakness-then-atrophy, but then I've read that some people seem to go that route first for awhile as just individual neurons/fibers die away leaving others still functional for strength for some time.

So, per the last paragraph, has anyone encountered this type of progression or onset that still ended up being ALS? (honestly, I kinda both do and don't want to know)

 

[KimT]

Did they do a muscle biopsy and lumbar puncture?

I can't imagine three different doctors thinking three different things. That would, indeed, confuse me.

Many have had to wait and, I think, that is in your favor.

 

[lgelb]

Based on what you have said about the EMG and your issues, I would still want to understand if the EMG showed a myopathic pattern or not (you can post it without identifiers if you'd like), and the rationale for doing or not doing a muscle bx.

Still not seeing ALS in this, either. But again, depending on the EMG and other things, could be simply a run-of-the-mill insidious myopathy or motor neuropathy. Whatever it is, it is developing slowly, so I would pretty much take the live-your-life-until-you-can't approach. I would want to rule out SMA and inflammatory myopathies because both are treatable. After that, I'd probably chill on diagnostic stuff absent any reason not to.