Would like your opinions: denial or false positive?

[smithp38]

Would like y'all's input. Not sure if I'm just in denial or if this could be a false positive. Yes, we are working on getting a second (or actually, third) opinion.

Long story short: my mom was diagnosed with ALS "officially" on Dec 23. She's still walking. Sometimes without a cane! I think she can even still stand on just her weak leg as long as she has something to hold onto. That does not sound like the other stories I have read here, including the 'read first' post.

First symptom was all over twitching - head to toe - starting in July of this year. She says her tongue twitches but it's akin to an eye twitch - not the 'wriggling worm' type twitching I've read about. Weakness started a few months ago. Definitely has foot drop but hip still works and obviously the rest of her leg still somewhat works or else she wouldn't be able to walk. No weakness (yet) in arms or other leg but she does get tired more quickly than she used to.

First neurologist (not an ALS specialist) thought it was all in her head and said her EMG came back clean. He sounded like kind of a jerk. Had brain MRI which showed nothing. She then went a saw an ALS specialist who took a ton of blood, tested for everything (found nothing), did another EMG, which came back dirty. She has a spine MRI tomorrow.

From what I've read, it seems like there are a few things that maybe sound more like MMN than ALS? The all over twitching (which is still happening), rather than localized twitching, and the lack of total muscle failure. I'm very confused on the progression thing though: a lot of stories you read, it seems like the muscle failure is very sudden; but were there really no signs before that? Was that just the culmination of progressing weakness? So I can't tell if hers is moving at a normal rate or if it's much slower?

Would love your thoughts. Thank you for your compassion. xoxo

 

[Nikki J]

I am very sorry about your mother. It is true that ALS specialist can misdiagnose but it is rare.
without seeing the emg or knowing the clinical exam results or blood tests it is hard to say if all mimics have been ruled out. Mmn for example has no real upper motpr neuron signs and can often have blood abnormalities and an abnormal nerve conduction test

failure does not mean we wake up one day and can’t walk as multiple muscles are involved in walking and ALS affects one muscle and then spreads. Usually there is one thing a person can’t do though they may not notice it until more muscles are affected

there is no normal progression really people vary very much. You don’t say how long she has had these issues So couldn’t begin to guess

a second neuromuscular opinion is a very good plan

good luck

 

[affected]

So sorry about your mother.
She has had a failure if she has foot drop - that is a classic one.
However, if she is going for another neuromuscular specialist that is wise as they are now at that stage of just making 100% sure it isn't one of the mimics.
I hope this helps.

 

[smithp38]

Twitching began in July, weakness in October/November I think?

I guess I was confused about the muscle failure thing because the 'read first' post talks about "sudden" failure and falling. She has experienced neither. Her first neurologist said 'if you are walking, you don't have it.' I have some words for that guy...

She also experiences tingling, soreness, aching, etc. in her leg. First doc put her in PT where they thought they saw improvement and claimed NO atrophy; specialist says there is atrophy. No one else can see the twitching, specialist said she could see it. Other random facts: she threw up twice - completely randomly - in the beginning. Has also had other stomach issues. Specialist seemed mildly intrigued by that.

Not sure about the upper vs. lower. I brought that up to my mom and she said the Dr. said she had indications of both - but then I asked more questions and she (mom) thought that meant signs in upper and lower body. So I'm not sure which her doctor actually meant. I will see if I can get my hands on the actual records/reports.

Believe me, I desperately wish I was in these appointments. I live in Atlanta, my parents are in Michigan. Home for the holidays right now. The specialist she is seeing right now is at Henry Ford; would like her to go to UofM for second opinion.

 

[Nikki J]

U of M sounds like a good place for a second opinion. If your mother wishes she can probably facetime you in for her consult there. My clinic does allow it and it is more common since covid

if the neurologist said increased tone, or spasticity or abnormal reflexes those would indicate umn signs. Your mother should be able to access her records through a patient portal

you might consider changing your location to hers. Not required at all but we do tend to answer based on location when recommendations for services are needed. ( I almost asked about Emory in my initial reply)

that first neurologist sounds like a dead loss.

of course it is important to realize that PALS like everyone else can have multiple medical issues at the same time so any uncommon symptoms should be looked into by her gp

 

[KimT]

PALS can and do have sensory issues including pain and tingling. I had a bunch of tests to see if I had a comorbidity but nothing was found. However, it is possible to have ALS and some other condition. I developed carpel tunnel syndrome during the pandemic.

Everyone starts differently. My first symptoms were localized fasciculations and cramps in my left foot. No foot drop. No weakness. That went on and the twitches moved up my leg and into the other foot. My first noted clinical weakness was in my left hand. The next was my left foot. I can still walk but am getting weaker. I'm lower dominant so my brisk reflexes had been noted for years prior. It was my norm. I only have a bit of spasticity at this point, not even enough to call it a problem. After diagnosis, my left leg's reflexes were very brisk and my right back to normal. Go figure.

I went to three ALS Clinics of Excellence before I believed my diagnosis. I progressed very slowly so I kept trying to figure out what else it could be or what the comorbidity could be.

Other PALS I know personally started out with fasciculations all over their body. That was their first "noticeable" symptom but when they were evaluated, clinical weakness was found and the EMG showed an ALS pattern.

The best thing any PALS can do is to get a second opinion from a neuromuscular specialist.

 

[affected]

The main thing with the sensory issues is that they may or may not be part of the ALS and are not a diagnostic factor. I experience tingling, soreness and aching in my legs and hips. I have for many years. I don't have ALS. So those things I experience are not enough to worry about or diagnose ALS. If I also experienced foot drop and began to have trouble walking ... different thing altogether.

It's very hard not being there with them - can you organise to attend by phone? I am carer for my brother with another neurological condition and I attend all his appointments by phone. I then listen, take notes and get to ask questions or clarify things said.

 

[Jensen73]

I have overlapping conditions that are on top of the, “normal ALS,” symptoms. I experience “shocks,” on my skin, for example. It is seen as a neuromuscular radiculopathy.

 

[MupstateNY]

I will see if I can get my hands on the actual records/reports.

Here's an idea. If your relative is comfortable with this, you could activate her patient portal, if she hasn't done so yet, and share the userid and password with each other. My son and I share his patient portal. He is 19 now and getting the hang of communicating with his doctor through the portal. Occasionally I log on to check a test result or write to his doctor, and I identify myself when I do that. His doctor is fine with that. He has a neurological condition of his own -- Tourette Syndrome -- so the three of us have been working together as a team for a long time.

Most portals have the office notes already uploaded. If not, you can write a message and request that it be sent to you as a pdf attachment to a portal message.

For my own care, I send office notes and test result reports to a provider for whom it would be relevant, when the provider is with a different institution and therefore without access to the same portal.

Wishing you guys all the best.