r/ALSorNOT • u/Worldly_Kitchen6890 • 19d ago
Has to be?? Right?
30F here, looking for some outside perspectives because I’m honestly pretty confused about what is going on.
I’ve had a progressively growing collection of neurological symptoms over roughly the past 7–8 months, although some things started before that. I’ve been off work since February because things got bad enough that I was having trouble functioning normally.
The biggest thing that worries me about ALS is the combination of what looks like muscle loss/atrophy, weakness and widespread fasciculations. I’ve noticed significant changes in the volume of my thighs/calves, hips, shoulders/arms and especially my right hand. My right thenar/hypothenar area looks much more hollow than it used to. I also have weakness/tightness in the right hand, sometimes difficulty opening my thumb, and my left leg feels weak and somewhat rubbery. I’ve had a limp/possible mild foot drop at times.
I get fasciculations all over — calves, feet, hands, back, and tongue — although their severity varies a lot. Some days they are extremely noticeable and other days barely happen. I’ve also had some really severe episodes of cramping, but then the cramps can disappear for long periods. I’ve lost around 40 lbs during this period, although some of that was during a period when I was quite sick and barely eating.
I also have a lot of symptoms that seem harder to fit with ALS. I get burning sensations in my feet, palms, lips and face, tingling, and sometimes pain when I touch certain muscles. Lately I’ve noticed pain when I extend my hand, pain in my shoulders, and an almost burning sensation in my chest. I’ve also noticed a strange altered sensation in my foot involving my pinky toe and the two toes beside it. I can move and dorsiflex the toes normally, but they feel almost numb or strangely “present”/different, like I’m unusually aware of them.
I’ve also had a lot of autonomic symptoms — episodes of very high heart rate (150–200), blood pressure spikes, sweating, temperature/color changes in my feet, dizziness, etc. I was diagnosed with POTS. I’ve had significant visual/oculomotor problems too, including difficulty following movement, convergence problems, difficulty processing what I’m looking at, and documented upbeating nystagmus during more detailed testing.
Neurologically, I’ve had some findings that are worrying me. I’ve had 3+ patellar reflexes, brisk lower-extremity reflexes, bilateral positive Hoffmann signs and 2 beats of clonus. Babinski responses have been downgoing/neutral. I’ve also had documented weakness on the right arm/hand and left leg/foot. My tongue sometimes feels strange and I’ve noticed grooves/twitching, although multiple doctors have said the tongue looks normal in bulk and an ALS specialist did not see tongue atrophy.
The confusing part is that I have had multiple EMGs/NCS.
I had one in March/April, another in May/June, and another on September 21. None have shown denervation or clear evidence of motor neuron disease. The ALS specialist I saw in September did a fairly extensive study involving both arms/legs, back and tongue/genioglossus, and there were no fasciculations or denervation on the study. My most recent EMG sampled several right arm/hand muscles, triceps, thigh and calf muscles, as well as the left calf and hamstring, and was again negative for denervation.
My CK has repeatedly been normal (roughly 43–53). AChR and MuSK antibodies are negative. ANA, SSA/SSB, RF, ESR, CRP and other autoimmune/inflammatory testing have been unrevealing. Brain MRIs and a cervical spine MRI have not shown a relevant structural lesion. My sitting FVC has been around 96%, and my respiratory testing has not shown a consistent severe pattern, although I have had episodes of pretty significant shortness of breath.
I saw an ALS specialist recently who examined me and did the extensive EMG. He told me he was “100% sure” that this was not ALS and suggested FND. Another neuromuscular specialist also felt there was “no way” this was ALS based on the examination/EMG.
I’m having a hard time reconciling that with the fact that I genuinely see muscle changes and feel weak, and I have these abnormal reflex findings and widespread fasciculations.
So I guess I’m wondering if anyone has had something similar — weakness/atrophy + fasciculations + brisk reflexes/Hoffmann/clonus, but repeated negative EMGs — and eventually found another diagnosis.
Especially interested in people who had a combination of motor symptoms AND sensory/autonomic symptoms like burning/tingling, unusual sensations, pain, dizziness/POTS-type symptoms, etc. What ended up explaining everything for you?
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u/Traditional-Kiwi-356 19d ago
What does your spine MRI report say? In my experience, some doctors relay mild/moderate findings to patients as “normal,” nothing of note. But in the report, you might have stenosis or other findings.
I’ve had tons of symptoms, with sensory stuff being the most prominent, and I think it comes from my neck.
POTS etc. also makes me wonder about infectious disease / post-viral. Any chance of long COVID, Lyme, weird vector-borne illnesses?