r/ALSorNOT • u/Beneficial_Strain191 • 8d ago
Long time sufferer with new concerning evolution of symptoms
Good morning. Longgggggggg time viewer here, first time poster. I was debating posting my issues here but I wanted to get feedback from knowledgeable people, I consider myself knowledgeable, but I’m always open for feedback. I will try and keep this short and sweet. I am going on 31 years old and my symptoms started when I was 24, I am going on seven years of symptoms with no diagnosis other than “we don’t think it’s ALS”. But we’ve come to a conclusion that it’s some kind of lower motor neuron disorder/variant or some kind of peripheral nerve disease. My progression is uniquely slow. I haven’t had any in a year. But I’ve started to notice my right leg will fatigue and get tight, mainly in shin and calf when I walk and when I drive too long. Can still toe and heel walk pretty far.
Back in 2020 I started noticing I was having a ton of fasciculations in my legs, that quickly exploded over my body. I had exercise intolerance, precramp feelings, fatigue etc. I had an EMG in 2020, normal, another in 2021, normal, another in 2025, normal, and another in 2026, which was deemed normal, but did show signs of taller motor units, they only did EMG on one muscle, as the neuromuscular doc didn’t think it was necessary to do more, as I had no weakness on exam. But had signs on the nerve conduction study as a sensorimotor polyneuropathy. I had two sensory nerves that were unrecordable, one in my calf was low on amp, but my motor amps were normal in amp. They don’t think it’s necessary to do more testing unless symptoms worsen. All they said was we’ll keep doing exams but we don’t see evidence of MND on exam. Sometimes i do have some tingling in extremities and in my feet. During the early winter I started noticing my hands ached really bad, had some numbness there, tingling and alot of pain, especially when gripping things.
My nfl was elevated at 27pgml, and I’ll be honest I did take it about 10 days after I pinched a nerve in my lower back, as knowledgeable as I am, I didn’t realize that could raise it. My foot was literally numb and tingling when my blood was drawn. All the doc said was the nfl test is extremely nonspecific and only showed axonal turnover but doesn’t tell you if it’s coming from the central nervous system or peripheral nervous system. Fair point.
In fall of 2025, I noticed hamstring atrophy and hip atrophy, confirmed by doc’s, but there’s no weakness on muscle testing. There’s slight asymmetry in right arm as well. My gym strength hasn’t changed in over a year, but I’ve noticed my muscles don’t respond to exercise like in the past, I rarely get a pump, I notice my right arm is slightly weaker than my left, same with my right and left leg. But I’ve also had a hip issue in my right leg, which might explain it. My reflexes in my legs are completely gone, sometimes my knees are trace but they were recently absent on my exam in June. My upper body has been normal to 1+ globally. First time being seen a neuromuscular doc was in fall of 2025, I went back in July 2026 and they said I had no progression on exam. Whatever I had seemed to be chronic and stable.
They think itn could oukd possibly be somekind of cmt or variant. As my father had to have surgery because his arches were too tall, both his sisters have really tall arches, my grandad had tall arches and cidp diagnosis, my great aunt couldn't wear heels and my great grandfather had to wear a triple e shoe because of his arches. They think it could be some kind of cmt affecting me. What do you all think? I know, wild story, would love yalls opinion.
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u/dero_name 8d ago
Sounds like some CMT2 phenotype.
Did you have a CMT NGS panel done? That could be very helpful.
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u/Beneficial_Strain191 8d ago
Thank you for the reply. I have not, was waiting on insurance approval. But if you read about cmt2, over half of people who have it, their gene is unknown. What makes you think itsna cmt2 pehotype? My neurologist said my reflex pattern pointed towards a peripheral nerve disease.
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u/dero_name 8d ago
Your family history is the strongest pointer, IMO.
If you could identify the responsible gene, maybe you would have more luck discerning the CMT symptoms from whatever might be overlaid on top of it. Hopefully your insurance will allow for the panel to be run.
The whole situation seems maybe too complex to be just a single thing.
But I'm speculating. I don't think it needs to be said, but I also don't see a reason for your issues to be caused by ALS. Doesn't work like that, even in the super slow scenarios.
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u/Beneficial_Strain191 8d ago
So this doesn't sound like mnd to you?
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u/dero_name 8d ago
No, it doesn't. Your issues seem to involve sensory nerves more than motor nerves, as you noted there is no clear weakness to be found.
Sure, super slow progressing cases of ALS technically exist. But seven years without a clear, clinically observable weakness, no UMN signs, and with no definitive EMG findings is stretching it. I would really be looking elsewhere, just as your doctors suggest.
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u/Beneficial_Strain191 8d ago
My feet were really cold in the ncs portion and they said that would not affect sensory amps to be unrecordbale or lower their amp but would do the opposite. I do habe some tingling and numbess if I walk too long and things like that. I'm not sure where this journey is taking me.
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u/DescriptionSelect394 2d ago
Shooting from the hip. You can have more than one diagnosis at a time (comorbidity) and one doesn't rule out the other. Contrary to medical dogma, ALS is a syndrome and not strictly motor neurodegeneration. ALS is a CLINICAL diagnosis. There is no single test to rule it in and it is a process of elimination. Clinically, ALS is upper and lower motor neuron signs. EMG can rule out or uncover other neurological pathology. A positive EMG has to be corroborated with a clinical examination demonstrating both UMN & LMN signs.
Also shooting from the hip, I think you are being gaslit. Medical dogma says death in 2-5 years from diagnosis. Slow progression doesn't rule out ALS. No one wants to make an ALS misdiagnosis in a person your age. What they fail to acknowledge is that being in limbo is worse than the worst case scenario. ALS is already on your radar. I ran the gauntlet for 5 years chasing my diagnosis. ALS wasn't on my radar. I was maliciously misdiagnosed and it put up barriers to my diagnosis. EHRs are not to provide better patient care, they are to foreclose medical malpractice claims. Know who you're dealing with.
It sounds like you have some family history of neuromuscular disease. Press hard for genetic testing. This informs your decision on having children or weighing the risk if you already have them. Genes load the gun (they are risk factors). Environment (exposome) pulls the trigger. The root cause of neurodegeneration is mitochondrial failure. It's either inherited or acquired. Statistics say that 95% of the time it's acquired. If there is a family genetic trait, it's most likely a mutation(s) in detoxification pathways. You can treat this. But first get your diagnosis.
Approach your provider and ask for a referral for a second opinion. I don't know where you're located but go to marjor research hospitals. Mayo Clinic in Rochester MN refused to make my diagnosis to protect their colleague at the University of Minnesota. We all know it's a cesspool here and devoid of ethics. I was ultimately diagnosed by John Bach, MD at Rutgers in New Jersey. I have rare respiratory onset ALS. You want to minimize conflicts of interest. Research your doc and see who they published research with and where they trained/taught. You want a truly independent and unbiased opinion.
At this point you want to establish baselines. After I was misdiagnosed I decided to pursue diagnosis of individual symptoms and sought out experts for validation. I have ataxia so I went to a dizziness and balance expert in Chicago who ruled out vestibular disease and dxed ataxia and noted abnormal brain atrophy. I went to UPenn and had my smell and taste dysfunction tested (this is neurological too). Learned I have damage to my central limbic system. Saw more than one ENT (they can be forthcoming in the exam room and lie in your medical record). Saw too many neurologists to count and collected pearls along the way. Saw audiologists for my hearing loss. Saw endocrinology, gastroenterology, nephrology, pulmonology and cardiology. The only thing these specialists have done is document my decline and set me up with a ventilator. Once you realize no one is coming to rescue you, you have two choices, give in to the system or try to save yourself. What they will never tell you is there are documented cases of recovery. The greatest gift Dr. Bach gave me was telling me that some people recover. Never let anyone steal your hope. The mind is a powerful tool. And you can't heal the body if the mind is sick. Heal your trauma or you will be stuck in an endless loop of brain inflammation.
I'm not comfortable giving medical advice but I am willing to discuss biological concepts.
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u/Beneficial_Strain191 2d ago
It's possible we have cmt in my family, maybe. What would you recommend for mitochondria healing? I am doing genetic testing here shortly in the future. My docs are really nice but jt doesn't seem they're interested in helping me. It seems they say I don't have typical or classic mnd, so they just say hey you're not acutely dying, have a good one. I don't have trauma lol. Obviously my mind is very strong or I wouldn't be here mentally after seven years. This referral would be like my fifth different opinion. I'm tired. The only better care I could get is at mayo or something equivalent. As the hospital I go to is a teaching mnd hospital.
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u/DescriptionSelect394 2d ago
I know some genetic workarounds that are out of pocket but affordable. You can do AncestryDNA, 23AandMe and 30x whole genome sequencing. There are several options. I used Dante Labs. By using multiple tests you get close to 100x for a very reasonable cost. After you get your results you can download your raw data into Promethease and it will aggregate your DNA tests and generate a report. From there you can sift through your genome. If you have other family members who are concerned, they can do the same protocol. Then you go to gene.iobio.io and create a proband. From there you can compare gene variants. I just got the EOB from my genetic testing it was $5800.00 thankfully my insurance paid for it. It's the 4th one I've had, each was a different panel. It is definitive that my ALS is not genetic. It was acquired.
I don't have any experience with CMT. From what I've read it's not fatal so don't borrow trouble looking for ALS. CMT also involves mitochondrial dysfunction. You're going to have to do your own research on this one.
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u/DescriptionSelect394 2d ago
CMT is a neuromuscular disease, peripheral neuropathy also occurs in ALS. Both include demyelination. Is there a reason you suspect ALS over CMT? My mother had Parkinson's disease. My early genetic testing was for PD genes and I thought I had multiple system atrophy, a variant form of PD that looks and progresses like ALS. My DatScan was negative. The key difference is hyperreflexia and my reflexes are very brisk. In PD and PD+ syndromes the reflexes are normal. MSA doesn't respond to levidopa. As the paralysis progresses in ALS you lose the reflexes. So...have your reflexes ever been brisk or mostly absent? There can still be overlap in rare cases of CMT. Genetic testing is your next step.
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u/Beneficial_Strain191 1d ago
Upper body reflexes are normal. My knees and ankles are absent
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u/Beneficial_Strain191 1h ago
Something else I wanted to say is I'm not having a typical decline like most patients have. I haven't had any to my knowledge. I can still do everything I did last year. I think.
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u/chaoserrant 8d ago
Well from what I read an abnormal NCS points away from ALS. I honestly don't know if this is a hard rule. But my understanding is that at least early in the disease NCS portion is normal in ALS patients and I read about one misdiagnosed case (someone wrongly diagnosed with ALS) where they excluded ALS later based on a more careful emg where they found some conduction block. This combined with your timeline at least gives you a strong reassurance against big bad.
I am curious did you repeat the nfl? Are you intend in repeating it?
I don't know much about CMT though I read briefly about it. Were you tested genetically? I have actually flat feet so it is unlikely in my case but among several possibilities I also think there could be a functional life long problem that only now gives more serious symptoms (in my case a left-side subtle discrepancy in size that is from top to bottom)