Differential diagnosis towards MND

[Clearwater AL]

Salomeaa,

ICD-10 code G12. 20 for Motor neuron disease, unspecified is a medical classification as
listed by WHO under the range - Diseases of the nervous system .

So, you really don't have a defined/designated diagnosis yet?

You wrote above you are working with a psychiatrist and are on several meds...
is he/her helping you through this?

 

[Salomeaa]

in Poland there is only G12.2
no specification
I got a referral to a genetic diseases clinic, because of my grandfather, whether I have the gene or not
but two neurologists found damage to the upper and lower motor neurons this week
pyramidal syndrome, Babiński, Rossolimo positive bilaterally, pyramidal right-sided paresis, muscular atrophy, diffuse fasciculations on the body, muscular atrophy and fibrillation of the tongue

 

[Clearwater AL]

Salmoneaa, Thank you for the reply. I hope you get all the help you need with all you've been through.

 

[KimT]

I'm just so sad to hear this. You've been through so much up until this diagnosis. Please be kind to yourself and ask for the help you need.
You're in my thoughts.

 

[Salomeaa]

Guys, my battle with MND continues..
on 16.01 I visited a neurologist who specializes in MND and during the examination there were some CLINICAL damages of the upper and lower motor neurons - fasciculations on the tongue, trunk, limbs, muscle atrophy on the tongue, hands, muscles above the knees; damage to the upper motor neuron - pyramidal syndrome, pathological symptoms, increased deep reflexes. The doctor, however, was unable to tell what type of MND it was. My neurologist sends me for another FULL EMG (also with tongue examination..) I'm so tired of it

I saw my neurologist 2 weeks ago and yesterday and she said that the atrophy is getting worse and "there's nothing to wait for" because "I don't have time"... I'm so tired of it all that I want to lie down and not wake up.
I have ALS diagnosis entered finally, but no one can tell what type of ALS / MND it is because I have never had a full EMG ... I'm terribly afraid that it will be Bullbar.
for 14 days the neurologist has been saying that he wants to give me RILUZOL... but he won't give it to me if there is no confirmation in EMG what type of ALS it is
was it like that for you too?
I don't know what to think anymore...

 

[Nikki J]

I am somewhat confused. If you were truly diagnosed with ALS versus a generic MND there would be no need for the emg because emg findings are part pf the diagnostic criteria. Since they are doing one it sounds like they are still trying to pin down the type of MND Also the wait for riluzole wouldn’t be dependent on it as there is no recommendation for a particular onset type.

once someone has a diagnostic emg they can be told where the examiner found signs It is not uncommon to find signs in more than one area. The term bulbar ALS just refers to having some bulbar involvement which most PALS have sooner or later. Bulbar onset means it started there so once someone is diagnosed their onset would be determined by their first symptom
I know this is excruciating for you. It sounds like you are lose to a definitive diagnosis and hope once you get some certainty it will be easier to deal with

 

[Salomeaa]

Thank you for replying.
I have clinical signs of upper and lower motor neuron damage.
I had an EMG done on November 28, 2022, but the doctor did only one muscle with a needle and it showed no changes - it was a muscle in the thigh. ENG both legs were examined.
Now the neurologist wants an EMG of the legs, arms and tongue..
I'm lost and I don't know what's going on. I have a diagnosis of G12.2 / ALS but I still don't have a disability pension application, a disability certificate, nothing... I am not treated in any way. I don't even have the option of state-funded rehabilitation, I can't afford a private one.

 

[Salomeaa]

as I wrote to you once, in Poland we have one diagnostic code G12.2 ALS into which everything is thrown - ALS, PLS, bulbar ALS, spinal muscular atrophy..
My neurologist is afraid to give me Riluzole because I may turn out to be PLS (primary lateral screrosis) and then in Poland Riluzole is not undermined ... at least that's what I was told. But what more can be done in a 10-minute visit?

 

[KimT]

When I was very early in the diagnostic process, Mayo Clinic gave me a prescription for Riluzole. At that point I wasn't even diagnosed with ALS. I was considered "possible ALS." That hadn't even done a lumbar puncture at that point.

Their words, "it won't hurt to start it even if it doesn't turn out to be ALS."

When is your more thorough EMG scheduled?

I know you must be frustrated.

 

[Salomeaa]

Yesterday I tried to make an EMG appointment, but I couldn't. I can only call on Monday.
Yes, it's been known since November that I have MND - now they say it's ALS, I don't know why the neurologist doesn't give me Riluzole..
I also have a date for genetic tests at the genetic clinic on August 12, 2025. Yesterday my neurologist gave me a gentle hint that I might not live to see this date.

 

[KimT]

That date is insane. I certainly hope you can get your EMG quickly.

 

[Salomeaa]

Hello dears,
I have not been writing for a long time. Turns out I have bulbar type ALS. Neurologists convince me to PEG, I am very afraid of the procedure.
As for the news - I can't wake up in the morning, I feel terribly tired, as if poisoned, despite the fact that I sleep sometimes for 10 - 12 hours. I am also very sleepy during the day. Saturation in the morning after waking up 92. During the day, especially when I'm tired, I feel like I'm drifting away, I'm about to lose consciousness, I have a lot of tingling then - I've never measured saturation with such a feeling, but the neurologist is afraid that it's serious hypoxia.
I had a spirometry done yesterday, can any of you interpret the results? I go to the pulmonologist on Wednesday. Do you think it's time for NIV?

 

[Salomeaa]

 

[KimT]

What did the bottom of the pulmonary function test say? I'm reluctant to give you my opinion because of the translation issues I have.

If you are having trouble swallowing, get the PEG. It will relieve the anxiety of having to take meds and eat large meals. You can eat things through your mouth that you enjoy and the PEG can do the heavy eating. We have lots of PALS who continue to eat what they enjoy and what is safe, then do the rest through the PEG.

Did they recommend non-invasive ventilation based on your pulmonary function test?

Sometimes the numbers don't really provide a clear picture but I'd defer to the pulmonologist or whoever ordered the test to interpret.

 

[Salomeaa]

I have an appointment with a pulmonologist on Wednesday and we're going to talk about NIV

From the spirometric test, I only know that I have a flattened expiratory curve - there is a plateau of the expiratory curve, which indicates obstruction in the upper part of the respiratory system - which confirms the palsy of the bulb, unfortunately.

In other news - I have been prescribed riluzole. I also had a consultation with another neurologist, a doctor who has been dealing with MND patients for over 40 years, and she was the one who diagnosed bulbar ALS in me and recommended spirometry, pulmonologist and NIV and PEG - she said that there was no need to wait. Better to do it now than wait until it's too late.

In general, I don't feel bad, I rest a lot, because of this theoretical hypoxia I can't read, my vision blurs and I can't focus - I regret that very much, because books are waiting including King's new novels ;-)

My physical fitness is basically unchanged, there are problems with swallowing - I eat little. The weight continues to drop slowly. I am very afraid of PEG, I am afraid of the procedure, that I will feel this tube in my stomach while walking, moving.