Bulbar symptoms and clean EMG

[Guest]

I was referred on to the Neuromuscular specialist at Beaumount(Dr Stela Lefter). Will see how that goes

[Guest]

I had my app and they didn't see anything worrying on my clinical despite that I have lost 30% of my tongue mass. Does bulbar usually present with atrophy before functional decline? Apologies I just don't know where to go from here and neither do medical profession it seems

[Ellie]

I have lost 30% of my tongue mass.
Does bulbar usually present with atrophy before functional decline?

If that were the case, do you seriously think that a highly trained Neurologist wouldn't "know where to go from here"?

[Guest]

Well it doesn't seem like it to me but time will tell

[Guest]

Does bulbar begin with atrophy first without functional decline. Ie I have wasting of my muscles but stil full power range but slighyt reduced endurance.
are there any others that can comment on their first bubar symptoms? or mnd conect if you can offer some support. I am crying constantly

[Ellie]

Does bulbar begin with atrophy first without functional decline. Ie I have wasting of my muscles but stil full power range but slighyt reduced endurance.
are there any others that can comment on their first bubar symptoms? or mnd conect if you can offer some support. I am crying constantly

MNDConnect

[MNDConnect]

Guest I'm sorry that you have concerns. The forum is not an appropriate place to ask for advice on possible MND symptoms. You really need to discuss your concerns with your neurologist as they are the only one who can answer your questions.

You are very welcome to contact us at MND Connect to discuss your concerns. We are available Monday-Friday 9am-5pm on 0808 802 6262.

Best Wishes

Rachel
MND Connect

[Johnny5]

ALS progression is different in everyone for the most part. Speed, the part of the body that is affected, and the order that the symptoms occur are all different. There are 85 +/- million motor neurons in the human body, so combinations can happen. The thing that is common between all pALS is muscle wasting and paralysis, but ALS is not the only condition that causes these symptoms. If ALS presented the same in all of us, it would not be an issue to diagnose.

Look at what is going on though. What else causes your symptoms (tongue atrophy?) besides ALS? If you were told it is NOT ALS, then your next question should be "what is it?". ALS diagnosis is not a race. Very few people are diagnosed in a month or two. Diagnosis typically takes 1-2 years because a trained professional must rule out all other possibilities.

Stress and anxiety over this will not make it go any faster nor change the outcome and can cause other physical problems in the meantime. The medical treatment is unfolding the way it is supposed to, and it is up to you where you fit in. Enjoy life, smile every chance you get, be contagious so everyone around you remembers you in a good light!

[Ellie]

Diagnosis typically takes 1-2 years because a trained professional must rule out all other possibilities.

I would welcome a published professional source for your "1-2 years" an ALS diagnosis "typically takes" - that figure seems out of step with data I have come accross.

According to your own ALS Association "it takes on average about nine to 12 months for someone to be diagnosed with ALS, from the time they first began to notice symptoms.”

And several papers cite 12 months as being an average duration between symptom onset and diagnosis, including:

“The most robust marker of prognosis is still the interval from symptom onset to definitive diagnosis, the average for which has remained approximately 1 year.”
Mitchell JD, Callagher P, Gardham J, et al . Timelines in the diagnostic evaluation of people with suspected amyotrophic lateral sclerosis (ALS)/motor neuron disease (MND)—a 20-year review: Can we do better?

[Guest]

I thought most of the diagnostic delay was getting to the neuro. I thought once with the neuro it's supposed to take only a few months? I heard there is a new blood test. Neurofilament light chain, has anyone heard of this?

[Banned]

Yes, but unless your consultant is on the ball, you will need to educate your consultant.

[Guest]

I talked to my consultant about that test and they don't offer it in ireland. I can see from the Web that svar life sciences in Sweden do it but I don't think my neuro will sign for it as they say its research only at this stage. Has anyone on here actually got that test? Are there places in the UK offering it. I didn't see any on Google.

[Johnny5]

Time from symptom onset to diagnosis (07/2015-10/2019) in my case was 4+ years. I saw 4 neurologists, 3 of them specialized in neuromuscular issues, 2 specifically on ALS.

Average is a single value (such as a mean, mode, or median) that summarizes or represents the general significance of a set of unequal values. The fact that 1 year is an "average" demonstrates just that. Not one person can deny that those of us who took 4 years to be diagnosed do not exist, yet, you think that there are scientific studies that prove otherwise? No, proving a negative just isn't "scientific". But the term most used (average/median etc) is representative of those who are diagnosed in 3 weeks, 9 months, as well as those of us whose diagnosis took 4 years. You cannot summarize in a scientific study that average excludes 1-2 years. Average is not specific. 1-2 years in not out of the "average".

One of the problems with diagnosis is UMN symptoms can be difficult to find in a clinical environment. Variants, including PLS, can take 4-5 years to diagnose. There is no authority that will guarantee that they can give you a diagnosis for ALS in 9-12 months because there are too many variables. The new Gold Coast ALS criteria will make it much easier for clinicians to diagnose ALS, but that criteria is still being evaluated.

[Johnny5]

One study

[MNDConnect]

Dear Oliveroldc,

I have spoken to our research team who have advised that the research for the Nuerolfilament Light Chain as a diagnostic tool is still under investigation. It is not currently available in the UK and would need to be approved by the regulatory authority before it becomes available.

Kind regards
Forum Admin