Confusion re: Bulbar/ALS

[gsd1988]

Hello,

I am a 29 year old female, and have a question regarding timeline/overlap of some symptoms. I've read the stickies, but in the event I've missed something and my question has already been answered, I apologize.

Brief history:

December 2016 onset of symptoms:
Visible fasciculations in leg and ribs, eye floaters, tremor/fasciculations in throat. Fasciculations proceeded to progress all over my body, tongue.

I have had the following tests:
- Brain MRI with and without contrast
- Brain CT
- C-spine MRI (found slightly herniated discs at C3, C4, C5, C6; fully herniated at C7 causing cervical radiculopathy)
- Tested (negative) for Lyme, Epstein-Barr
- Full workup with chief of neuro-ophthalmology department at NYU (said everything was fine)
- April 2016: Two EMGs/Nerve Conductions with neurologists at NYU and Mt. Sinai (both did their fellowships in neuromuscular disorders, one publishes in medical textbooks, specifically regarding neuromuscular disorders).
- I was told Nerve Conductions were "perfect"
- Both neurologists told me I was "strong"
- EMGs (I was told) only found benign fasciculations

I have what I feel is a "lump" in my throat - I can still swallow food and liquids, but feel like some liquor comes back up after I swallow.

My biggest concern is, what I perceive, as muscle atrophy on the right side of my neck/throat and just a weird sensation (tightness, but also weakness? It's hard to describe). I believe sometimes I stumble on certain words, but my mom claims it's in my head, and both neuros didn't bring up any issues with my speech.

I have an appointment with an ENT at Mt. Sinai on Monday.

I guess my questions are: does Bulbar ALS present this way, along with benign fasciculations simultaneously occurring along the rest of the body? Or Bulbar Palsy?

Thank you all for your help with this; I appreciate the time you took to read this, and greatly appreciate any insight you could offer based off of experience(s). Honestly, I am terrified. Thank you again.

Best,
Claire

 

[gsd1988]

Sorry, meant "liquid," not "liquor"!

 

[lgelb]

Claire,

Asked and answered. Two "strong" exams by experts. Two "benign" EMGs. Local symptoms in your neck/throat that only you perceive. An ENT consult forthcoming. All is as it should be, with no hint of bulbar disease.

I would really look to basics like nutrition, hydration, stress, sleep, mood and doing things you really want to do. A visit to bring cheer to a facility where everyone is way more impaired might be helpful.

Best,
Laurie

 

[gsd1988]

Hi Laurie,
Laurie,

Thank you very much. I normally wouldn't worry, but I've had the "luck" of being diagnosed with/experiencing two other considered rare diseases (ITP and hemiplegic migraines), so the "it's rare" disclaimer regarding other illnesses doesn't necessarily put my mind at ease as it should!

Again, you're definitely correct on the relaxation and nutrition fronts, and I really appreciate you taking the time to read and respond to my post.

C

 

[gsd1988]

Hello - this is a new question in the same thread (as I believe I'm not supposed to open a new thread).

As a follow up, my ENT appt went well, which I'm thankful for. However, the muscle fasciculations
have become more frequent, in addition to some cramping. I've gathered that fasciculations are Lower Motor Neuron (if this is incorrect, please let me know). Based on previous threads in the forum, if the symptoms were LMN, and the EMG was "clean" (I was only told both of my EMGs "only showed benign fasciculations), the consensus seems to be that there is no ALS.

However, I have read on other forums of individuals showing no signs of clinical weakness, only presenting with fasciculations, receiving clean EMGs, only to be diagnosed with ALS months later.

Could anyone give any input on if this is true? Specifically, can one present with no clinical weakness, and two/multiple EMGs only show benign fasciculations, and later be diagnosed with ALS?

I am terrified, and have an appointment with the director of Penn's ALS clinic/center later this month.

Thank you again,

Madeleine

 

[lgelb]

Claire,
I can think of no cases here that fall into the category you have described. Since you report a dx of hemiplegic migraines, you might consider the sensory manifestations that could entail, even outside "migraine episodes." I would also consider a 24-hour Holter to rule out cardiovascular disease.

Best,
Laurie

 

[gsd1988]

Thank you. Yes, I was seen by a cardiologist from Feb - end of March. Did an echo, device that sent daily EKGs, and he said everything looked normal. Also ordered a chest X-ray which came back normal.

When I met with the neuro-ophtalmologist in March, she said the migraine thing as well, and I scheduled an appt with a migraine specialist.

I've been to so many doctors: two neurologists (fellowships in and listed conditions treated as muscle disorders), neuro-ophthalmologist, ENT, cardiologist, infectious disease specialist, oncologist/hematologist. I'm just at a loss, and so are all of the doctors.

 

[gsd1988]

Hello,

I am wondering if anyone with experience in EMGs/NCS could help me make sense of my report. My symptoms are worsening (cramping in legs, right ring and pinkie finger weakness), and out of an abundance of caution, I was wondering if anyone could take a look and let me know if it would be beneficial to consult with an ALS specialist a recognized clinic. Currently my appointment with the Dr at Penn, I found out, is not for ALS, so if anything looks off I was just going to try to schedule something at Jefferson. Just trying to figure out if there are actual issues or anything of concern, as I don't know how to read these very well.

Thank you so much for your help.

If there is a better way to insert the EMG/NC, please let me know.

 

[Nikki J]

Your EMG which is the part that matters when you are concerned about ALS was 100 percent normal. You had minimal eveidence on the ncs portion of possible carpal tunnel. In ALS the ncs is generally normal and the emg decidedly abnormal.

I would suggest following up as you were told and forgetting about ALS
Congratulations

 

[gsd1988]

Hi Nikki,

Thank you for your response. I think I was concerned because the doctor made a comment about how I'm not in the"right age range" to get ALS, which I know to be false, as a girl I attended high school with just passed recently from it, and I am/was worried the doctor might have "written off" some initial signs in the test due to approaching my situation from the view that I couldn't have it in the first place. However, I would hope a doctor wouldn't do this, and I should not doubt what he is saying.

Thank you again for your analysis, advice, and quick response, I truly appreciate it.