Recently Diagnosed - Atypical/Unheard of Onset of Weakness

[1992lucas]

My name is Lucas Machado - a 32-year-old Brazilian-American white male. I was just diagnosed with probable ALS "until proven otherwise" by a neuromuscular doctor.

I apologize for the long message and thank anyone willing to take a look and offer advice.

Below is my timeline; I am praying that I end up being misdiagnosed. I am hoping to schedule a consult with someone who could take a look at my case and maybe help, given my onset of sudden weakness/paralysis is so unique, along with other atypical features.

• 11/23 - Covid - SF, CA
• 3/24 - Dengue - BH, BR (was in an area with high coinfection of chikungunya)
• 5/19/24- Twitching in the right arm after tattoo sleeve session. They have been nonstop in my right arm and spread to my left arm as of 12/24. My twitching is exacerbated by stress and slows down to a minimal amount when I am sleeping - according to my girlfriend.
• 5/30/24 - Diarrhea and nausea for 2 days in Mexico City (Bacteria/virus?)
• 6/4/24 - Florida - Cold sore/blister on the lip (herpes?)
• 6/10/24 - I had 30+ bites, welts, or a rash on my right arm. Large scars remained, and the ink was removed from the tattoo sleeve. I wore a compression sleeve on my right arm the following month, thinking bugs were biting me at night. The rash gradually went away but left scars.
• 6/15/24 - I woke up and could not move my right thumb or hand to turn off the alarm clock side button on the phone. My right thumb/hand felt paralyzed for a few seconds, so I went back to sleep. Later that morning, I had a limp wrist and trouble turning the key. I have woken up with a weak/limp wrist every morning since that day. It improves after about five minutes.
• 7/24 - Bilateral upper extremity hyperreflexia confirmed by doctors, more so on the right arm.
• 9/24 - The brachial plexus, brain, and cervical spine MRIs were normal. The neurofilament light chain test came back 3.5x elevated. All other bloodwork came back normal. Autoimmune blood markers came back normal. EMG showed fasciculations only.
• 12/24 - Started IVIG due to MMN suspicion from partial conduction block at Erb's point. I have done it for 3 months, no difference in symptoms.
• 12/20/24 - tongue fasciculations for the evening. Not noticed since.
• 2/25 - I noticed significant weakness in the right side finger and wrist extension. Hand slower and stiff. My weakness has continued, mostly in my right hand and forearm. Since June, I have noticed that lifting weights, typing, and doing dishes have gradually gotten slower with my right hand.
• 2/12/25 - Emg done by a neuromuscular doctor - denervation progressed in right arm - radial, median, ulnar, axillary—fasciculations on three other limbs.
  • The doctor said this is ALS until proven otherwise and suggested starting riluzole.

I've been told post-infectious causes would have improved or plateaued by 9 months instead of continuing to weaken me, which is why the doctor has come to this conclusion for the time being, although he did acknowledge my case is atypical.

My onset of sudden paralysis in my hand, multiple infections, rash the week of the weakness, fluctuations, age, and slow progression are atypical from what I've read and heard of ALS.

I'm in Sarasota, FL, and have contacted USF in Tampa, UCSF, and Stanford in NorCal, where I have family and could move to for some time, hoping for a detailed look or a second opinion.

I hope someone here has some resources in the Tampa/Sarasota area or anywhere else; traveling wouldn't be an issue, who could give more insight or connect/point me in the direction of where else to look, particularly because I think my case is fairly unusual.

Any feedback would be very much appreciated.

 

[lgelb]

If you could post the EMG tables/report, we could be more helpful. I agree there are atypical features so we would recommend a second opinion in any case.

You do not mention having been followed by an infectious disease specialist? I would especially want an ID to order labs and to look at the bug bite scars and any pics taken of the rash. These were Florida bugs? Is there any chance you imported them from your travel?

 

[1992lucas]

Thank you for the reply. I've requested my most recent EMG and will post it here asap. I did consult with an ID who passed me on to a neuromuscular specialist. The ID said that it is possible that my history of infections could cause my symptoms, but because they were so long ago and the acute stage has come and gone, there isn't much he could do since many of these post-infectious neurological effects or sequelae are self-resolving and not studied as much yet.

I suppose I could have imported them from my travel, but I'm unsure. I noticed the rash/bites on my arm the week I returned to Florida. When I got them, I looked up similar pictures and thought they were bed bugs. In hindsight, there are a few features that I question about that:
- The rash/bites were only on my right arm, and there was no other body part.
- The rash/bites went away after a month and left itchy scabs/scars - I did not change where I was sleeping or treat for bed bugs. My understanding is that bed bugs multiply without treatment.
- My girlfriend slept next to me and had no bites or rash.
- The sudden thumb/hand paralysis started the same week as the rash/bites.

I understand ALS is a diagnosis of exclusion, as are other post-infectious autoimmune and inflammatory processes.
My first symptom was the twitching after the tattoo, and then all of these happenings around the same time muddied the picture. When I try to think about my case objectively, the progression of damage does worry me, but the history and onset are so unique from what I've read and heard I wonder if there are more stones unturned that I could look for as far as exams and possible causes. I've read about heavy metal toxicity, lyme, formaldehyde, mold, brachial neuritis, and maybe a combination of something post-infectious and peripheral.

I'm currently awaiting consults for a second opinion from a multidisciplinary clinic. In the meantime, I'm curious if anyone here has had any experience or resources with any other potential options I may be missing.

Any insight or guidance would be appreciated.

All the best

 

[KimT]

I'm familiar with USF. I went there for a 4th opinion since I was progressing very slow. They have good doctors there. They will want to repeat your EMG. I'd go to another infectious disease specialist (maybe you can book one at USF.). Perhaps the tatoo needle/ink caused some sort of infection/reaction. It seems odd that your girlfriend didn't have any rash or bites, so another opinion from ID wouldn't hurt.

 

[1992lucas]

@KimT and @lgelb thank you for the responses. I'll certainly get another ID's opinion.

I've attached my most recent EMG, any insight would be greatly appreciated.

Thank you

 

[lgelb]

The EMG somewhat supports the infectious disease theory, since abnormalities apart from fascics are limited to certain muscles in your R arm. Improvement soon after you wake up is also not an ALS thing.

You are correct that we would expect untreated bedbugs to get worse and bite your girlfriend. Although it's rare, West Nile virus, which can cause weakness and paralysis, is spread by mosquitoes and there are cases in Florida.

https://www.flhealthcharts.gov/ChartsDashboards/rdPage.aspx?rdReport=NonVitalIndNoGrp.Dataviewer&cid=8645

I'm sure there are other ID possibilities, and I do think they should be systematically ruled out. I'm not sure if the ID initially took into account that the course of any virus that could be causing your current issues could have been mediated by the previous viruses.

I would also ask about discontinuing the IVIG if it's not helping, because depending on what you really have, it might not be helpful at all and has its own side effects.

 

[1992lucas]

@lgelb Thank you so much for the analysis.

The ID I spoke to mentioned that my previous viruses could cause my issues, although it would be rare. He said that many of them are self-resolving over time and did not mention testing at this point. I'll undoubtedly reference that article and ask how to rule them out systematically in detail.

Given how unique my onset was - my weakness started when I woke up in mid-June one day and could not move my thumb/hand. I've had injuries before and remember this feeling being so unique. I scooped my phone with my right hand, but when I went to turn my alarm ringer off, I was looking at my phone and felt like there was a complete disconnect between my brain to thumb/fingers. No matter how much I tried, my thumb would not move, so much that I brought my other arm around to press the alarm off my phone. This sudden temporary paralysis lasted a handful of seconds, so I went back to sleep and figured I had just slept on my arm wrong, but since that day, I've woken up with a limp wrist and weak fingers. This sudden episode is what sparked the weakness. Over 9 months, that same wrist and fingers have gradually weakened, with the morning fluctuations as I described before. There is no weakness anywhere else. That same week, I noticed a rash all over that same arm. The same arm I had tattooed one month before.

The twitching doesn't bother me, but my symptoms of progressive weakness in the hand and hyperreflexia since that episode do.

That being said, I've asked doctors and read many case studies and stories of people's stories and am yet to find a sudden temporary paralysis onset like mine. The rash and preceding virus'/infections complicate my case as well.

Since everything, according to the neuros has been tested for and ruled out, I'm in a situation where only time will tell, but I am curious if anyone else has heard of anything similar or knows of any specific tests to look out for or references for other things to look out and ask for at any specific places as well?

Thank you all again for taking the time and patience to read. I understand everyone has gone through so much, especially in this community.

 

[lgelb]

I agree with Kim that the tattoo angle should be explored as well -- maybe for a damaged or infected nerve root. It's true, were that the case, treatment options would be limited, but in that case, physio and some other non-drug modalities might play a role.

Please note, we are not saying that you do not have ALS, but that your history calls for a cleaner-than-clean rule-out of other possibilities.

 

[1992lucas]

@lgelb thank you for the response. I understand you can't say that I do not have ALS. I'm aware of this being a diagnosis of exclusion where, at a certain point, time will be the only tell. I hear from family and friends, as well as some reports in Brazil, that tropical viruses like dengue have had effects for years, but, as you mentioned, treatment is also limited.

Those are good points that I hadn't thought of. I'll look into the tattoo angle in more detail and follow up with your questions about the rash and immune-mediated responses from my preceding infections. I also wonder if I could have a combination of something post-infectious and a benign fasciculation syndrome caused by the tattoo trauma or something that's immune-mediated as well.

I'm curious if anyone has heard of another ALS story of sudden paralysis triggering weakness starting like mine? Or maybe another mimic/virus/infection that's presented similarly? - so that maybe I could request a specific test.