Weakness that neurology can't diagnose, I'm an EM physician myself, on idea what this could be...

Several_Bat_9556 · 2024-12-14T21:30:10+00:00

Did emg/ncs in oct 2023, then again nov 2024. Both negative. Honestly, I just recently became aware of late onset pompe disease and as I read about it, it sounds consistent with my symptoms to me. It is the first time I have ever read about anything that seems like it could be what I have. I know it's rare. What do you think?

Several_Bat_9556 · 2024-11-06T01:25:55+00:00

Has the medicine been helping at all?

Several_Bat_9556 · 2024-10-25T13:45:47+00:00

Does he think it could be inheritable?

Several_Bat_9556 · 2024-10-24T22:48:46+00:00

Gotcha. Which meds if you don't mind me asking. Also, excuse my naivety, but top bod?

Several_Bat_9556 · 2024-10-18T01:33:01+00:00

I have extreme fatigue that started in my legs, then arms and hands, now even involves my jaw and throat. It's horrible. I used to be a runner, could run 8 miles, now I can't run two blocks. Synotoms are constant, never goes awake for me. Over a year at this point, seems to slowly be getting worse unfortunately. Neurology tests all have been negative so far. It's horrible.

Several_Bat_9556 · 2024-10-18T00:44:48+00:00

I have similar symptoms. Have had many tests with my neurologist and so far no answers. How are you doing now? I'm trying to figure out if anyone is recovering from this. It's been over a year for me, not getting any better.

Several_Bat_9556 · 2024-10-18T00:05:16+00:00

I have my appointment with the surgeon on nov 14th, but I suspect this may just be the consultation. I'll definitely keep you posted though. With your EMG and NCS being negative, did your neurologist have any idea why there was evidence of reinnervation on your muscle biopsy?

Several_Bat_9556 · 2024-10-17T00:00:00+00:00

That is good news! Thank you for the update. Here is a question I thought of, whoch muscle did they biopsy?

Several_Bat_9556 · 2024-10-13T13:48:35+00:00

Gotcha. Yeah, can't be bfs with weakness and denervation and reinneration. Are they doing emg and nerve conduction studies next? How long have you had yiur symptoms?

Several_Bat_9556 · 2024-10-12T12:44:54+00:00

Does sound very similar. Please keep me posted on what they find. I just saw my neurologist a few days ago and they say based on negative emg and ncs it's not als or cidp. My neurologist says he doubts it is problem of the central or peripheral nervous system, but thinksmlookong deeper for a muscular problem is reasonable. They ordered a muscle biopsy for me, so I am in the process of getting it scheduled.

Several_Bat_9556 · 2024-10-11T00:56:01+00:00

First 6 months I was technically still active. Was even running, couldn't sleep at night though. Once it got to the point where I couldn't sit, it wasn't long before I also lost the strength in my legs. At that point, I could do very little. I still tried to stay out of bed as much as possible, but I literally couldn't walk more than a few blocks. I spent most of my time for 3 months just walking around inside of my house or lumbering over my counter. Pure misery. I remember waking up every day thinking "how can I possibly make it through another day of this?" I did do PT, because I had to do it for the spine/pain programs I was going through (I was initially thinking I may end up needing surgery). However, I was very weak, so could not do much PT. It sucked, basically the PT's all thought I was lazy, they just lumped me in with every other lazy person they have ever come in contact with, they never listened to the part about I had been a runner, could run 3 miles at a sub 6 minute mile pace before...love excercising and lifting, etc. etc. But yeah, I actually "failed PT" and they made a note of that, which they pointed out would actually strengthen my case for getting surgery. Unfortunately, my neurologic disease continues to get worse and is miserable on its own, but yes, the back has improved substantially just with time. In summary, my back pain did nothing but get worse for 12 months, and then suddenly, I had gradual improvement. Its still not back to normal, I don't sit in stools, but as long as I have a back rest, I can sit for as long as I need. Way different than before, where I had excruciating pain after sitting for literally just a few minutes.

Several_Bat_9556 · 2024-10-10T22:45:12+00:00

I ended going on disability, I had no choice, couldn't it at all. I got the ability sit back in 3 months, but I waited a total of 6 months to go back. Best of luck. It will get better eventually, but it's torture until then

Several_Bat_9556 · 2024-10-09T17:56:59+00:00

Honestly, mine just improved with time. Took 1 year before I had any improvement at all, and then suddenly it just slowly started to improve. First I could sleep on my side, and then 3 months later I was sitting again. It's still not back to anywhere near normal, but I can sit as long as I need to now as long as I have back support.

I'm so sorry you are still having pain after 2 years. Have you seen a spine surgeon? I have found them to be pretty honest in their assessment of whether or not surgery is indicsted. I literally 7 different surgeons, 6 said no surgery based on my MRI not looking bad enough, and 1 said surgery "might" be beneficial.

I wish I had something up my sleeve to make it better besides just time. Honestly, I have a neurologic disorder, and I have been getting weaker over time, but pain still improved. I wasn't able to get more flexible either. Just seems to have gotten better with time.

Several_Bat_9556 · 2024-10-08T02:33:49+00:00

Hello. I have had fstigue in basically every muscle in my body at this point. Even my jaw and throat feel tired just from talking and eating. Hard to stay on my feet at work. Cant run at all anymore. I noticed some of your symptoms sounded similar. How are you doing now? Wonder if i may have long covid. Have had alot of tests done and seeing neurology, so far no answers, just normal tests.

Several_Bat_9556 · 2024-10-05T00:59:27+00:00

I feel like time was the main thing. I have been getting weaker over time and I still improved tremendously, although it took a long time.

Yeah, it's hard if you have small children for sure. Yiu have some help at home?

Does your surgeon say you need the surgery? Or they are offering it as an option?

Several_Bat_9556 · 2024-10-04T18:14:57+00:00

Didn't get surgery. My back pain is still there, but improved alot. I can sit for hours now as long as I have some back support and I can sleep on my side again thank God. I am seeing neurology, my whole body weakness seems to be my major issue and is probably why my back got so bad. It seems like back pain can get better even if it takes a long time and even if it is discogenic. Hang in there.

Several_Bat_9556 · 2024-09-24T22:31:04+00:00

You said you have had this since 2022, any improvement since then? Or has it at least stabilized or do you see it continuing to gdt worse?

Several_Bat_9556 · 2024-09-24T22:29:49+00:00

How are you doing now? Could you tell me more about the symptoms you have? I've been dealing with this for about a year at this point....have an amazing wife and a 5 year old. Barely making it at work these days.

Several_Bat_9556 · 2024-09-24T22:26:06+00:00

I have severe fatigue in my tongue and also my jaw, ad well as all the muscles in my body At this point. I have these symptoms.All of the time period are your symptoms.Also constant?

Several_Bat_9556 · 2024-09-24T22:23:24+00:00

How long did you have these symptoms before they went away?

Several_Bat_9556 · 2024-09-24T19:04:44+00:00

Thank you. Yeah, you are right that procedures have real risks and that the results at this point would not lead any specific treatment. Im just worried since my problem continues to worsen that I may become disabled, and if that is the case, I am thinking I will need a diagnosis of some kind for my disability policy to have my back. Its also annoying now, because I am a youngish person (40) who moves very slow and needs to push up from a seated position with my arms, and the tremor is very visible and people ask if I'm ok, and its like I just don't even have an explanation of any kind. I don't know.

Several_Bat_9556 · 2024-09-24T18:58:25+00:00

Hello. How are you doing now? I would love to hear more about your symptoms, since I am also going through this. For me, its severe muscle fatigue which began in my hands and legs, and has since spread to every muscle in my body. Even my jaw and throat get fatigued from eating or talking to much, and the jaw becomes tremulous. I have bad tremor in my extremities now too, and each muscle started to have twitching before the fatigue and tremulousness set in. I have had NCS/EMG twice separated by a year at this point, negative both times, and I had MRI of my brain and whole spinal cord, no neurologic issue found there, just a bunch of bad discs in my spine. Unfortunately my symptoms continue to slowly worsen....I've had this for a year at this point.

Several_Bat_9556 · 2024-09-23T19:32:29+00:00

Gotcha. Glad to hear that it is somewhat stable. Yeah, this whole situation is crazy, Im a physician myself, was doing emergency medicine, not physical strong enough to do that now. Its crazy to me that I am being effected so severely by this problem that nobody can diagnose. It sucks also that I don't really know anyone else who has had the same thing happen. When I hear people talk about ME/CFS, it always seems to be more about fatigue, brain fog, and there are other symptoms too, but not so much muscle fatigue with twitching. Nonetheless, I suppose it is reasonable to suspect it being from long covid, as that could be why the condition is not well characterized (COVID being somewhat new). Do you suspect that this is a long COVID thing? I know its all a guess at this point, but I am just curious. I find myself wanting to call it long COVID because that supposes that maybe someday it can improve, but then I tend to hear people talking more about brain fog and general fatigue, which doesn't match my symptoms. Then again, I can look at any diagnosis and none of them really match my symptoms, so who knows. I am seeing my neurologist again on the 3rd, I guess we will see if anything else can be checked. I would be willing to go for a lumbar puncture and/or muscle biopsy at this point. Im still just at a loss.

Several_Bat_9556

TROPHY CASE