Bulbar ALS/MND

hsmsnl

New member
Joined
Oct 26, 2024
Messages
2
Reason
Learn about ALS
Diagnosis
00/0000
Country
US
State
NY
City
New york
Hi i am 40 Years Male, Diagnosed MND in July 2024, taken second opinion with neuro muscular expert and as of today he is certain it is MND although not yet diagnosed.
My Symptoms -
1. Feet pain (While driving - Neuropathic?) since 2018.
2. Mild Hand fingers Tremors since 2020.
3. Hoarseness in voice in 2020, checked with ENT specialist, did laryngoscopy, no problem, he asked me to drink more fluids & problem became ok in few days. Hoarseness comes & goes in coming years but not a major issue.
3. After several rounds of GP visits, Shown to General Neurologist in Year Jan 2023 - NCS done - Small fibre neuropathy discovered, Started Maxgalin (Neuro pain) & Beta blocker (Tremor) in March 2023.
4. Monster Days began in start of May 2023 - Neck flexor weakness - Unable to lift head while lying down on bed - head lag (like babies), while driving head lag when you accelerate & hoarse voice & loss of voice tone. Did Not pay heed to Neck flexor weakness as thought it might be temporary but was very worried about sudden voice loss.
6. Went to ENT in May 2023 for Vocal issues - ordered laryngoscopy same day - left vocal cord palsy diagnosed - ordered full body Pet scan - Came negative, idiopathic vocal cord palsy diagnosed, vocal exercises started. Vocal cord became mobile again after doing exercises by june 2023. Voice became normal again. 5. Went to earlier general neurologist who ordered RNST test in June 2023. Test came as "Occasional decremental Response". Seems partly worried, he ordered blood test for MG - anti achr & anti musk which came as negative. He asked to join Physiotherapy & continue with maxgalin & betablocker. Widespread pain in shoulders & neck continued for several months.
6. Physiotherapy continued for several months- pain remained in shoulders, no improvement in neck flexors. Wean shoulders as well. Neuro conducted First EMG to be double sure but it came back clean.
7. Hoarseness again started in November 2023. Went to ENT again in Dec 2023 & checked vocal cord which was mobile but he saw some tongue fasciculations & wasting and asked to see neuro immediately. Till then had no idea what tongue wasting & fasciculations means.
8. Went to same General Neurologist and he ordered a second EMG in Dec 2023 (including tongue muscle) and it came back clean again. Medicines & physiotherapy to continue.
9. Swallowing issues started in Jan 2024, but resolved on its own in Feb 2024.
10. Leg weakness started in March 2024, walkability distance reduced to about 400 mtrs and then right leg starts limping although nobody noticed.
11. Swallowing issue returned in June 2024 and tjis time i decided to change the neuro & went to top private neuromuscular expert & he conducted Third NCS/EMG in July 2024 (Attached EMG-3 ) & diagnosed me with MND. However, he told he is still not sure as vocal cord palsy became mobile on its own & this doesn't happen in ALS/MND. Suggested to see another top neuromuscular expert as he was not sure.
EMG Results - All muscle samples revealed LMN featurs of ACHD including PSWs, Fibs, Fasciculations, Occasional triplets (But no Myokymia or CMFA). Motor units were large to giant in amplitude - interferences gloabally reduced. The clinical profile suggest MND.
NCS was normal.
12. Went to see the Neuromuscular expert in August 2024 & he ordered Fourth NCS/EMG again in Sep 2024 (Attached EMG-4).
EMG Results- No sponatneous activity in any of the muscles sampled (including Tongue), MUAPS were of large amplitudes and discrete interference in certain muscles, and normal MUAPS in some muscles.
NO evidence of active denervation but evidence of reinnervation.
NCS was again normal.
13. Doctor has put me on MG medicines, however looking at my tongue atrophy he is certain that it is Bulbar onset ALS. There has been no improvement in symptoms for past 2 months of taking MG medicines.

As of now, my neck flexors are weak, shoulder muscles are weak, there are active shaking of hands when in use, active inner vibrations in legs/thighs when standing, walking distance reduced to about 200 mtrs, after that have to take rest to again walk. There is mild atrophy at back of neck. Unable to lift any small weight above my shoulders. Unable to lift head on its own when lying on bed, have to take help of Hands. There is no Dropped Head situation. Even though symptoms started in May 2023. My voice is perfect and nobody from outside can tell a difference, although i feel weakness in tongue when speaking & there is some hoarseness. I go to office daily but unable to travel because of fatigue & walkability issues (My boss is super supportive).
I look perfectly normal to people i meet as they dont come to know anything abnormal since voice is normal, neck flexors dont cry out on their own & i am able to walk.
However, my Life has completely stopped ever since my diagnosis and i am very very depressed. Due to weakness & fatigue have stopped meeting my friends or going out. Me, My wife & my kid are like in a prison. My kid knows there is a medical issue but not the fatality part.

In ALS, can vocal cord palsy recover on its own? All My Doctors dont have answer. But it is well documented medical evidence by our country's top ENT specialist.
Is it normal in ALS, that No Sponatneous Activity (SA) comes in 4th EMG & widespread SA in Third EMG in a span of 2 months?
In Bulbar ALS, is it normal for voice to be fine after 1.8 years of symptom onset (Some hoarseness which gets ignored by outsiders) & you look perfectly ok from outside to people who dont know you?
Is there anyone who can put some light on my situation & or has gone under similar situation. Please help!
 
If MND were the reason for the vocal cord palsy, no, it could not improve.
No, it is not normal for SA to be seen on EMG and not on the next, in MND. Were these done at the same center?
"Bulbar ALS" could mean bulbar features or bulbar onset, but if speech were affected by MND, ultimately, all can hear the difference.

I don't know where you've been seen, but I would certainly ask for a referral to an<other> academic neuromuscular center.
 
I am based in India. The first private neuromuscular expert i went (point No 11), is a renowned name in India & he & his team themself conducted EMG & NCS. The second neuromuscular expert i am consulting right now is from top government hospital & EMG?NCS conducted by his team.
Both are certain that its MND, while first one suggested MND in his EMG report but refrained from diagnosing due to vocal cord improvement, the government doctor is certain it is MND although he has not yet doagnosed and has chhosen wait & watch policy. Both have no answers to how vocal cord became mobile again.
Attaching EMG report of both the experts. While first EMG (EMG-3 in July 2024) has SA widespread, the second one (EMG-4 done in Sep 2024) doesn't report SA at all. As told above, both done at different places by different doctors.

What are my options as i have literally ran out of doctors as both are well known & there is actually no more better doctors than these here.
 

Attachments

Today we often speak of the Marie-Patrikios variant mentioned in EMG3 as the "flail leg variant of ALS."
But that subtype typically doesn't include vocal issues at onset. On the other hand, we don't know for sure that the temporary dysfunction relates to MND at all.
If they both believe it's MND, we have no reason to doubt that. And the subtype isn't really going to change treatment.
Like anything else, there is a spectrum of MNDs and you could have an unusual variant, or more than one condition.

So I am not really sure what you are asking here, but wondering why your profile lists New York if you are based in India? If you travel to the US or something, you could certainly obtain a third opinion, or send your records to a US clinic for a telehealth consult.
 
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