Looking for input and guidance during long journey to diagnosis

[sam2025]

I am a 50 year old female. My great aunt passed from ALS in her fifties.
My history is fit, healthy, non smoker, non drinker.
I used to walk 60 minutes 4x week and yoga 2x week.
My symptoms began in January with extreme dry mouth, which I thought nothing of at the time.
From Jan to March, I began to experience pins and needles in my hands and feet. Also didn't pay much mind to it.
Then I began to experience persistent tingles in my tongue and decided to see my GP.
They tested me for iron and b12 deficiency, Lyme, sjogren's syndrome, as well as sent me for EMG, brain and cervical spine MRI and referred me to a neurologist.
Iron and B12 are fine. Sjogren's was negative. Lyme was positive for a PAST infection, not active. MRIs were both normal. No evidence of MS.
In April, the EMG was clean (despite already noticing a small difference in my left bicep at the time of the EMG).
Neurologist consulted with me, but did not perform any physical exam. She informed me based on my symptoms at that time that she believes it's small fiber neuropathy (possibly caused by a past viral infection where my immune system is still over reacting), and that it should gradually subside.
Left that appointment feeling great.
Two weeks later I began to experience muscle cramps in my calves and abs. I also started having twitches in my biceps and top of left foot. They have now progressed to full body twitches, particularly when I'm at rest. The newest twitch is under my right eye, which persists on and off throughout each day.
Two weeks ago I began to notice my left hip popping with each step. This persists today and is beginning to cause soreness if I walk too long.
I can no longer do weight bearing yoga poses, as my left arm and left leg begin to shake. They are noticeably weaker.
My newest symptoms are a tightening jaw and neck muscles.
I went back to my GP. She examined me and said my left hand is definitely weaker, but that it's still not enough to call it an abnormal exam. She also said she believes the twitches are all from stress and I'm going to be fine, but to still follow up with neurologist.
That appointment is in a couple months. However, I did speak to the neuro over the phone and discussed the newest symptoms. She still believes my symptoms can be explained by stress and small fiber neuropathies, and I should see an orthopedist for the hip. She pretty much said we're in a "wait and see" stage regarding whether the weakness I'm experiencing progresses.
So my interpretation is that they don't diagnose ALS until you start dropping things and/or tripping.
I'm not sure what to do at this point.
Is this truly a wait and see journey?

 

[lgelb]

You are certainly not describing typical ALS onset, and the tests/exams are reassuring also. If the orthopedic exam's not revealing, you might see a rheumatologist to rule out that category of conditions. You could also ask about a PT evaluation.

 

[sam2025]

Thank you kindly for your response. I have an appointment with an orthopedist next week re my left hip continuing to pop with each step, and an appointment with a new recommended neurologist late this week for a second opinion regarding everything going on.

The whole body twitches and cramps as earlier described have largely subsided, which I think/hope is good news.

However, the perceived weakness in my left arm and leg continues (nothing has failed).

I also have many more pins and needles in my left foot and a feeling of heaviness when I lift my left foot, which is mostly noticed on top of the foot and up the top of my shin. Concerned this is the precursor to foot drop. Thoughts?

I am also experiencing lower back pain now on both sides, which may be a result of my hip issue, or a result of overall muscle weakness progressing.

I have not made an appt with a rheumatologist yet. If you don't mind sharing, which conditions are you thinking of that a rheumatologist would investigate regarding possible cause of these symptoms?

Thank you for all your time and attention to the diagnosed patients, their caregivers, and to the many many people living in fear of this horrible disease.

 

[lgelb]

What you describe in terms of pins and needles is not how foot drop typically begins.
Nor is back pain a typical ALS onset symptom.
I'm going to leave the differential dx to the rheumatologist, but you may not need to go that far if the orthopod sees an issue.

 

[sam2025]

Thank you for your time and response.

Is it possible for muscle atrophy to occur prior to clinical weakness (which I think is defined as failure)?

My upper left arm continues to noticeably atrophy, but I have not experienced failure. Yet?

I am vey confused by all that is going on, and of course very concerned that the symptoms all appear asymmetrical at this point, wholly affecting my left side (with the exception of some occasional twitches and cramps on the right).

 

[lgelb]

Only in (bilateral) flail limb variants that you haven't described.

On the chance that your sleep, relaxing, work, or driving positioning is unduly affecting one side, you might consider video and getting another set of eyes on each.