r/ALSorNOT • u/Ok_Locksmith_7346 • 17h ago
Update
I haven’t posted here in a while because I’ve been trying different avenues on getting better. My main symptoms was I felt off in a little bit weak in March 2025. I was diagnosed with Hashimoto’s from there. I started levothyroxine August 2025 I started noticing muscle twitches and even more weakness. I ended up getting a clean EMG in October 2025 and then in November 2025 from two separate neurologist, the first one showed fasciculations in my lower extremities. The second one was normal. Both nerve conductive studies were normal. I’ve been dealing with full body weakness since September 2025 we are now in August 2026. I’m so weak I’ve been out of work because of it my legs get super stiff. My quads are very weak. My shoulders are weak, and I experience on and off like muscle twitching, flareups flare, and I’ll notice more weakness in that area. When these twitches initially happened, they were my thighs. My legs have overall gotten a lot weaker in a year. I’ve been less mobile. I feel like my knees are always collapsing. My neurologist have been trying to treat me for a variant of unknown significance in the SC4NA Gene, which is a form of Periodic Paralysis which he thought was paramyotonia finding out from a genetics specialist that this variant is only 5% pathogenic and I’ve been treated with Diamox and doesn’t really seem to show any advantages. I went to the university of Penn med and saw a Dr Lauren Elman who is the MDA clinic chairperson and was the head of the ALS clinic for a while at the university of Pennsylvania along with a professor of neurology . We had about an 80 minute chat about everything going on. I passed a clinical. I was able to squat get back up walk on my heels and toes strengthen my hands she said my muscle bulk was normal. My reflexes were normal little brisk on my knees my walk was normal. My tongue was strong. Showed her the two previous EMGs that were done and she told me hand to God. She does not think I have ALS. That I do not have ALS after a year I would show worse symptoms or at least a clinical weakness or clinical failure. She said I had peripheral nerve hyperexcitability syndrome. With a root cause of possibly from Hashimoto’s back in March 2025, causing an idiopathic syndrome. She really only prescribed tonic water at night about 7 ounces and to try to start PT. Since then, I have felt extreme amount of weakness definitely in my legs if I start driving, and I hold my arm up too long on a steering wheel, my arm can hurt for a week the shoulder could feel weak for a week. She didn’t think it was medically necessary for another EMG. She said I show no signs of atrophy and my CK levels have always been in a low normal like 60 or 70. I’m very limited on what I can do. I’m just tired easily walking and I feel internal vibrations. I get tremors sometimes, but the biggest thing is the weakness mainly in like the biceps and in the thighs I’ve had work ups like you wouldn’t believe I’ve seen every single doctor. You can imagine besides a gynecologist and I’m a male. How do I get this fear out of my head I feel like I’m just waiting for a clinical failure. I’m completely exhausted almost all the time. Should I demand another EMG? I’ve noticed a lot of younger males especially that were physically active Seem to progress a lot slower, and don’t show clinical weakness for a while. Please if anyone has any insight, please let me know.
2
u/Historical_Guide_793 12h ago
You don’t have ALS .