23 M Could this be ALS?

Status
Not open for further replies.

Ericwagner55

New member
Joined
May 2, 2024
Messages
1
Reason
Learn about ALS
Diagnosis
00/0000
Country
US
State
FL
City
Land O Lakes
Hello everyone, my name is Eric and I just turned 23 (yesterday) this is going to be long but I want to know this forums thoughts.

Since January 2021, I randomly was barely able to walk when visiting a friend in New York and it was cold out. It was super scary, but I scheduled a neurology appointment to be safe. I ended up getting bloodwork done from the neurologist to which everything came back clean except for high Bilirubin (which they said shouldn’t be a cause for concern).

I then did a genetic test through invitae in which they found genes of uncertain significance. They found the SQSTM1 gene which is linked to Paget Disease of Bone 3, distal myopathy with rimmed vacuoles ALS/front temporal dementia, and neurodegeneration with ataxia, dystonia, and gaze palsy.

They also found the ALG2 gene linked to congenial myasthenia syndrome, and the ISPD gene linked to muscular dystrophy. (My grandmother has been diagnosed with myasthenia gravis)

I did an EMG after this back in 2021 which there wasn’t any significant findings, and shortly after the EMG my symptoms of leg weakness only occurred if I was doing extrenuous exercise, so I just stayed clear from running and kept on with life.

Things were going well for the most part up until December 2023 where the leg weakness got really bad again, and now ever since then things has been getting really difficult again. The fatigue in my legs has been bad, I’m having rare but occasional muscle spasms in my joint right next to me knee, my arms have been somewhat fatigued and I can’t be 100% sure but I think I have a little bit of atrophy in my forearms.

Mentally I have been a mess, and I’ve felt different behaviorly a little the past couple of months. I will preface and say that I have been super anxious about everything that came up on my genetic panel, and through the symptoms I’ve experienced on and off the last couple of years, but I try to stay positive and move my body the best I can/live life to the fullest.

I’m going to a neurologist in a month so I’m hoping to find out more from her, but I had two neurologists previously tell me they have no idea what’s going on with me which obviously keeps me worried. Please let me know if I’m crazy for my thinking and I appreciate your response.
 
Last edited by a moderator:
First, ALS is a progressive disease. It doesn't come and go. Also, your EMG was negative for ALS so that also rules out ALS. MG and some other neurological syndromes can come and go. We only do ALS here but your neurologist who ordered the genetic testing should be able to explain the results. I've had many genetic testing through Invitae after my ALS doctor suspected I had Ehlers Danlos and I did.

You, too, may have more than one thing going on but I think it's probably a good sign that it comes and goes.

Let us know what the final diagnosis is when you've seen your neuro.
 
Eric, a lot of people have a lot of genes, that don't affect their health status at all.

If you haven't had an EMG since 2021, another one may be ordered to rule out something like adult-onset myopathy, but I don't see ALS in this picture.

I presume that Cold Agglutinin Disease was ruled out and that your bilirubin has been tracked since, but would certainly verify with your internist.
 
Status
Not open for further replies.
Back
Top