Stuck between PLS and ALS

[Samcsurf35]

Hi All,

Not looking for any diagnostic help because that what my neuromuscular team is for, but looking for people with similar experiences and to connect to the undiagnosed motor neuron disease community.

A little about me: before this all started I was 28, strong swimmer/athlete/surfer. 175 lbs. now I’m 34, 145 pounds, can no longer run, barely walk, can’t surf, and barely hanging on to my job due to sheer fatigue and impacts with hands/legs, voice.

UMN signs diagnosed: pseudobulbar affect, jaw jerk, lower extremity severe spasticity, palmomental reflex, lower extremity hyperreflexia, dysarthria

LMN signs on emg: reduced recruitment, long duration MUAPS, fasiculations in bilateral arms, with no connection to cervical MRI findings. Severely low amplitude in lower extremity peroneal motor nerve (right side).

LMN signs on exam: tongue wasting and fasiculations. Unfortunately I was not relaxed enough during EMG for meaningful data to connect the two. I also have hand weakness.

Pulmonary function tests show declining FVC, MEP, MIP. Severely increased Residual Volume due to expiratory muscle weakness

So far, my doctor has said that I have predominantly upper motor neuron damage, which could be PLS (all other potential diseases with this type of damage have been ruled out), but the problem is I show LMN signs, just not in a typical pattern of spread and quantity to justify ALS, which obviously I’m thankful for, but that doesn’t necessarily mean I’m not on my way to that.

Has Anyone else ever been through or is going through something similar? This limbo is sort of a living hell, as this disease (whatever it is) has derailed me physically, and it would be nice to connect with someone who is on the same journey.

 

[ShiftKicker]

Hi there-

Sorry you find yourself in limbo. It's not a comfortable place to be. Have you been diagnosed with MND and they are now just trying to differentiate between ALS/PLS? Or is your doctor still exploring other pathways? What are next steps, do you know?

 

[Samcsurf35]

Hi Shiftkicker,

Thank you so much for your reply! No diagnosis, I’m on some kind of watch and wait for more lower motor signs to develop. But because I have enough LMN signs, they are not diagnosing me with PLS, and I will just have repeat EMGs. However, since my lungs are really involved, and that is not typical for PLS, they are doing overnight capnography for co2 assessment AND neuromuscular protocol PFTs in November. However, no clear communication on whether or not that would seal a diagnosis. Yeah it’s not a fun place to be, especially because apparently all other mimics have been ruled out. Did you go through something similar?
Thanks!
Sam

 

[KimT]

If I were you, I'd get a second opinion. Everyone should get a second opinion. Since you are progressing rather slow, make sure you gather all your records and go to an ALS specialist, even if you've already been to one.

 

[lgelb]

There is UMN-dominant ALS, which is not PLS, but often progresses a little more slowly. That would be my guess from what you have said. As Kim says, get a second opinion at an academic medical center if you are not already at one, to assure yourself that you are in the MND tent.

Keep in mind (and you might want to look at this sticky if you haven't), that PLS is watched for several years as to whether it will in time be diagnosed as ALS. So whatever someone thinks right now could be wrong, ultimately. And of course, the science that leads to new treatments is progressing with every year past diagnosis, so there may be a chance to bend the curve.

Some PLS does entail respiratory impairment at onset, and it can be significant, so that alone cannot be diagnostic. If so, you would be provided with BiPAP if needed, like everyone on the ALS/PLS spectrum.

 

[Samcsurf35]

Thank you for the reply and advice KimT. I’m on the west coast but definitely willing to travel. In your own personal experience with diagnosis , where in your opinion is the best ALS clinic for diagnostics?

 

[lgelb]

Are you seeing Dr. Ravits at UCSD?

 

[KimT]

I've had friends go to Cedars Sinai LA and UCSF. I think the most important thing is you get a second opinion by a neuromuscular specialist.