Concerned about Symptoms - Curious for feedback

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Steve97

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Hello. First off, I just wanted to acknowledge what a wonderful and helpful community there is on this forum. So, regardless of where my situation leads me, I appreciate the years of discussion that have been archived for the undiagnosed such as myself to research on.

To preface, I have read the stickies and a good number of prior threads, so I've learned a lot so far. Such a great resource compared to the sometimes overly general Dr. Google.

For some background my situation, in December I start to notice my legs would start to burn, be sore or generally hurt after a basic walk. Each day I could walk less and less without pain. Eventually it became a constant shooting pain from the hip to the foot. In early March, I developed muscle twitching all over, mostly at rest, which includes flexor spasms(jerks). I got concerned in early April when the same shooting pain developed in both arms as well. I ended up going to a university hospital to get in checked out and get some pain relief.

I ended up having a good number of neurological exams due to the university nature and I believe they were concerned about possible guillian-barre. One of my exams, which was quite detailed, flagged a few abnormalities (hyperflexia(bilateral), positive hoffman's(bilateral), positive babinski, extended jaw jerk, spastic catch on my right leg, some muscle atrophy along with increased muscle tone). Based on that, I was offered admission to try a figure out what might be going on.

I ended up getting 2 MRI's (brain, spine), EMG/NCV (2 limbs) and blood work. The MRIs were largely unremarkable, only a bulged disc at c6-c7. The NCV was normal and the EMG was 'clean' (no denevervation) the only indication was just a confirmation of c6-c7 issues. It was performed by a neuromuscular specialist who was instructing students at the time, so it was quite clear to me there was no concern. The blood work offered no alternate explanations. I was discharged and given gabapentin for the pain with only c6-c7 as a likely cause.

As of today, the pain is a bit better. For some odd reason, my joints, including my neck, have started to snap/pop/grind in the last couple of weeks. Also, I've noticed some vague changes to my tongue and throat area. My strength is also clinically normal (5/5) as of last week. My general concerns are centered around worsening flexor spasms, continued twitching all over, some off balance sensations and possible changes in the bulbar region.

I know from the stickies I shouldn't be concerned with ALS (onset with pain, all over twitches, no clinical weakness, bilateral hyperflexia etc.). Joint cracking seems to have been dispelled as meaningless as a possible early symptom in the past. What gives me a lot of pause is the positive hoffman's. babinski and jaw jerk. That seems to point to an UMND at a minimum, at least as far as I can tell. Is there any significant concern with it actually turning into ALS in this case (or possibly PLS)? I was hoping to find someone with a similar presentation and see what their diagnosis end up being. I didn't find an exact enough fit, so hence the post. I am following up with a neuromusclar specialist soon, so I will be getting a proper diagnosis. I was just curious for a community take on a 'clean' emg with multiple abnormal exam findings.

Thank you ever so much for your time.
 

affected

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Thank you for taking the time to read our sticky posts through.
We stand completely by what is contained in them.
This means that your reflex issues, without actual failure don't mean anything in regards to ALS.
It will be good to have a full neuromuscular exam - let them decide if these few reflex responses and jerks you have reported mean anything clinically. Quite possibly they don't. We can't give any real reply to this as are not examining you.

Please don't waste your time trawling, hoping to find someone with a similar presentation, because you will find them, but they won't have had ALS.
You can't control what disease you do or don't have, but you can control how you spend the time you have right now, so I respectfully suggest you spend your time working on your general health and wellbeing instead.

Please do come back and let us know what the specialist diagnosis is.
 

Steve97

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Thanks affected.

That's the gist I was getting from most of the things I've read is that the reflexes don't carry any weight in isolation. Dr Google makes is so tough because it lacks a lot of the nuance available in the stickies. Plus, it's my understanding that they can all show up in healthy people in one form or another, so it could be for me that they've been that way for a while.

For additional context, I've had a full neuromuscular exam about a week ago. The neuromuscular doctor didn't seem too concerned with my symptoms and overall presentation. Which is good. However, I've been fully examined by another neurologist as well (in April) and she identified many of my physical exam abnormalities along with noting that I've already lost 15 lbs without trying this year. So, I've ended up with a bit of a split opinion on my level of concern. I want to fully believe the neuromuscular doctor and move on but I'm concerned about a potential harbinger still lurking. So, my solution for that is to get an independent opinion from another neuromuscular specialist next week. If nothing else to further the diagnostic process and get some form of diagnosis/treatment for my current symptoms.

I do agree with you, I tend to believe that most of the people with presentations similar to mine didn't end up with an ALS diagnosis. Many of the threads just kind of end and there's no context for where the symptoms ultimately lead. I'm not super concerned at this point myself about the potential for it as I don't quite seem to have the presentation for it. It's mostly trying to stay informed about the possibilities as I was nominally healthy 6 months ago and have had these things crop up recently. Plus, I've already had most of the neurological workup done at this point and ALS hasn't been crossed off for another explanation.

I will return after I know more and report the findings from my independent opinion. If nothing more than to provide knowledge to others.

Thanks again for your time.
 

affected

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Please do let us know the outcome.
Just remember that most of the people you are asking to read your long posts and reply to you are either terminally ill or caring for the terminally ill, so please just be mindful of that.
We are happy to answer questions not answered in the stickies, but you have read them and seen multiple specialists. We really can't add anything further, especially when you are not even super concerned.
I wish you the best and hope you will follow doctor advice. It is best to ask them to clarify the questions you have as they are the ones examining you, so can answer in full context.
 

Steve97

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Thanks Affected. I will do my best to be mindful of my post length. I have no intention of being disrespectful to the community.

Quick update, I had an appointment today and the neuromuscular specialist confirmed that I have at least upper motor neuron dysfunction based on pathological brisk reflexes.

My next step will be to get an updated EMG later this week to see if there's any lower motor neuron involvement yet. I also plan to get genetic testing done soon as well. So, no ALS diagnosis at this point, but it still remains a distinct possibility.

I am very nervous at this point, while I am yet to experience weakness, I have some signs of muscle loss in my neck and shoulder areas. Still trying to be optimistic about my prognosis.
 

affected

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Thanks for the update - hopefully the neuromuscular specialist also said that brisk reflexes without anything else could be a huge number of things. You don't mention them finding any other clinical indications of ALS, so I hope you can keep the nerves at bay until there is more to go on. Hoping for all the best as was found in your last EMG 🙃
 

Steve97

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Thanks Affected for your reply and we'll wishes. ALS wasn't on the top of the list, it did make the discussion due to the upper motor neuron indications. But there are still things on the list to be crossed off still. I'm hopeful the lower motor neurons continue to behave themselves. ;)
 

Steve97

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Just thought I'd throw in a quick update on my situation.

My 2nd EMG was clean, so at least the lower motor neurons aren't involved yet. I am starting to struggle with increasing fatigue and muscle stiffness now. I'm taking Baclofen for the stiffness. It kind of helps, but the stiffness seems to be progressing each day. I also have wasting in my shoulders and the back of my legs as well.

Still very much worried about my prognosis at this point. The upper motor neuron dysfunction diagnosis is a bit vague. I can't tell if it's effectively PLS or it's just an undefined MND. I'm not even sure if there is any sort of treatment option for my present diagnosis. It doesn't seem like they'd prescribe something like riluzue short of a more concrete diagnosis.

It's definitely a scary place knowing that you likely have an MND but are unsure of your prognosis or treatments options. Or the possibility it becomes ALS at some point. I certainly empathize with anyone who has faced or is facing this type of situation.
 

Nikki J

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That is good news. It is important to keep communicating with your neurologist to know what the likely differential is If they are saying provisional pls I would definitely get a second opinion from a neuromuscular specialist.
 

Steve97

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Thanks Nikki. My current diagnosis of UMN dysfunction actually is from a neuromuscular specialist. PLS is more of a speculation on my part given all the things I've read here and elsewhere online. The neuromuscular specialist is content to trend me for the time being and see how things change over time. At this point I have already exhausted a good deal of the differential diagnosis options available as well. So I feel a bit stuck on my prognosis.
 

Nikki J

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I would still seek a second neuromuscular opinion. We advise people with a diagnosis of ALS to see 2 neuromuscular doctors as well. That doesn’t mean you have to change doctors but just to get a second look.
 
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