Everything has been ruled out except ALS

[pidgey]

Hi I'm a 24yo F, yes I know I'm young, but I wouldn't be posting unless I truly believed this is what is happening to me. Because of the severity of my symptoms and speed of progression, I feel like I'm receiving a delayed diagnosis while I actively become disabled. My symptoms started in May of '23, my left leg gave out at a wedding and it felt 'off', went to a long covid specialist I see assuming it was related to that and he started me in PT.

Since May I have gotten progressively weaker and now have to use forearm crutches, the weakness is now in my arms/hands--typing this with one hand-- and face causing me to slur. There tends to be a pattern; I got slight cramps that increased before the weakness was very noticeable and then the weakness, the cramps, and fasciculations all became constant over about 2 months. I have clonus and my left hand looks like a claw I need my right hand to open it all the way, I cannot walk--my legs can't support me and my arms are getting weaker every day, and once those are too weak I have no idea how I'll get around. The weakness worsens if I use the affected muscles, but if I rest for about 10-20 min it 'recharges' back to the pre-use 'strength'. For reference May PT - able to walk a mile, Feb. PT last week - able to lift 2lbs, needed help after 3rd rep.

I've been tested for everything under the sun: no MS, GBS, CIDP, Lupus, autoimmune disease panels and probably a gallon of blood work clear, brain and spine MRI & LP clear, EMG abnormal in 3 out of 4 tested muscles in 12/2023 "Abnormal study - this study showed electrodiagnostic evidence of demyelinating sensory motor neuropathy, prolonged F waves, reduced CV, prolonged motor latencies meet criteria for Chronic Inflammatory Demyelinating Polyneuropathy." (as of 2/24 it was determined it was not CIDP but no other diagnosis has been given). She's asked that I relocate from my rural area to the city where my parents live but hasn't given me a diagnosis of anything yet, I'll see her in a month but we message often regarding my symptoms.

I'm not a medical expert, I am 24 year old overly analytical thinker and while I want to hope this could be something else my symptoms, the progression, and the medical evidence all point to ALS. The speed is what worries me the most, even if it isn't ALS I am undeniably being paralyzed and I feel like my doctor has been taking a lot of time (although I know the avg. time to diagnose is rather long), I am seeking a second opinion and also value the resources y'all have left on other threads for people in this situation. I appreciate the time it takes to read & respond and any insight y'all might have. xx

 

[Nikki J]

Obviously something is wrong but what you posted about your emg/ ncs does not include anything that sounds like ALS. If you could post your deidentified emg we could comment better. ALS is only a diagnosis of exclusion if you have the emg as well as the exam that indicates it. While you sound like you might have a suspicious exam the emg sounds like it points elsewhere. How does she explain the emg/ ncs if not cidp?

How was cidp ruled out? Was it because of your lp?

What are the qualifications of our doctor? You should be being seen at a university level hospital

 

[pidgey]

Thank you, I'll go ahead and add EMG/NCS later. Neurologist is at a University research center in Texas, and she hasn't offered anything new. She's been testing me for the past two months and everything she has proposed so far (CIDP, Long Covid, blood clots) has not been 'the one'. CIDP was ruled out after I tested negative on two things she had sent off but I already had the clear LP when she proposed it, I am on steroids just in case maybe it does work, but I'm a month in and no stagnation or changes for the better.