Looking for recommendations

[Arran]

Thanks for the reply Mike, I appreciate all the reply’s from everyone! I was just hoping someone might be able to help me understand the reinnervation without denervation!

Thanks again

 

[lgelb]

Reinnervation without denervation when you are still walking and talking is a good sign and signifies that you should not have concerns about ALS. I would continue to work with a neurologist who specializes in neuromuscular disease to understand possible causes and treatments.

One does not hide the other; each looks different on the test.

Best,
Laurie

 

[Arran]

Thanks for the reply Laurie

 

[Arran]

Hi Everyone,

I’m not sure if I should start a new thread, as it’s a different topic.

I was wondering if I could have some input on the diagnosis procedure of als in particular. It seems that most people come here to ask questions that can’t really be answered because the disease is so complex

It really can only be answered by the doctors! But isn’t the process from symptoms to diagnosis unbelievablely long and often it isn’t diagnosed until significant loose of neurons!

Does anyone know of any new methods being taken to actually diagnosis earlier on! I’m just speaking my mind here, as none of my friends or family would understand what I’m going on about, one thing that I haven’t heard much of here is hyperexcterbility being a precursor to als, which I think is what people are referring to, when they say they twitched before weakness

And I’ve read many stories of people having clean emgs then finally having a dirty one! I’ve also read about surface emgs being helpful to diagnose als, but yet these never seem to be things the specialist talk about!

Aren’t the “preclinical signs” extremely important to identify and could be a huge help in finding treatments, which I’m sure studies are being done about that as we speak! My personal experience so far seems to be unless I walk in with a limp or unable use my hands or barley talk! Then I’m apparently fine

I absolutely love this forum, and I’m so thankful that I can talk to you all! It’s fantastic that it creates a platform for people to talk even if there not diagnosed, and that creates more exposure, which is so important!

 

[Nikki J]

ALS is terribly complex. The current diagnostic criteria include specific abnormalties on clinical exam, emgs abnormalities in a specific pattern affecting multiple nerve roots and then excluding any mimics which generalky involves MRIs and blood work.

There is much research being done to attempt to find biomarkers for earlier and or easier diagnosis. Carriers of FALS mutations are being studied as these are people who WILL get ALS unless they die prematurely. The studies look for both biomarkers ( changes in blood, urine, csf or mri) and possible environmental triggers

But right now the criteria above are necessary for diagnosis. The emg should show it if you have weakness and atrophy and it is ALS. If you have pure upper motor neuron disease then your exam should show that Your emg could be normal but it would be possible PLS.

All we can advise is to seek an opinion from the place Tillie recommended and follow their advice

 

[KarenNWendyn]

You ask “Does anyone know of any new methods being taken to actually diagnosis earlier on?”

In addition to what Nikki says, part of diagnosing ALS involves noting disease progression over time. Some neuromuscular specialists insist on two visits months apart to monitor for disease progression before confirming the diagnosis. Mine did.
Unfortunately that does add to the length of time to make a diagnosis.

Even in strongly suspicious cases, disease mimics have to be ruled out and second opinions are always a good idea. So a quick diagnosis of ALS is not common, especially early in the course of symptoms.

 

[Arran]

Thank you both for taking the time to reply, I am seeing my specialist, Thursday next week! I will post my update here

Take care

 

[affected]

Who is your specialist Arran?

 

[Arran]

Katrina Reardon, she used to work at place you recommend, I’ve been seen her for about 6 months! Do you have a particular name to recommend?

 

[affected]

Thanks Arran.

I find it interesting that you say you have been seeing Dr Katrina Reardon for 6 months, yet in your first post here you said "you can't find anyone one with the title neuromuscular specialist for als/mnd"

Your neurologist certainly does have that title and is highly regarded in this field and has been for more than 15 years.

Australia actually has some of the leading experts, and you are seeing someone that is highly qualified.

Post back after you see her next week, but honestly if she is examining you and ordering the tests, you can't get better than that. Frustrating as it may be, you need to follow what path she takes. I truly wish you the best.

 

[Arran]

Thanks again for getting back to me, I think I’ve been getting my titles mixed up! I thought a neuromuscular speicialist was it’s own title, but It seems they’re just neurologists that specialise in neuromuscular problems,

But she has been great in ordering tests and so on! But the physical exams are barely worth it, again I feel if I don’t present with a limp or zero hand strength! Or extreme atrophy then I’m fine!

Know body looks at the leed up to the problems before they’re bleedingly obvious! I’ve had all the mimics ruled out! Any way thanks again

Take care

 

[Arran]

I do have another question if anyone can help me?

I read a post here quite sometime ago! I believe there name was Cindy but I don’t think they are still on here! She mention that if she sits still then she doesn’t notice the twitches so much

This is exactly the same as me, does anybody know what she ended up being diagnosed with ?

 

[codyclan]

Here’s the thing about those ‘barely worth it physical exams’—they detect clinical weakness. They really do. My husband did not feel weak and was hocked when his first exam revealed clinical weakness in areas where he had not noticed problems. Seriously, it doesn’t feel like much to you because you don’t actually have clinical weakness. Feeling weak is not the same and feeling weak doesn’t mean that clinical weakness will show up later. You are being seen by a neuromuscular specialist. Work with them to find the problem. Being so focused on ALS may actually overshadow another issue. Let us know what happens after next week, but until then refrain from researching on the internet and this forum.
Best wishes,
Tracy

 

[Arran]

Hi Tracey, i wasn’t referring to physical exams in general being barley worth! Infact quite the opposite, in that instance I was referring to the physical exam I received from that particular neurologist.

The main reason I started this post was to ask if I could get a more detailed physical exam from a recommendation! It turns out I’m in the best hands for my area, I completely agree with you on the importance of them

My concerns from the beginning, has been I’ve had needles stuck everywhere, many times which is great in being thorough, and from my opinion the physical exams have been extremely quick! If I can’t stand on my heels or toes, etc then I would already know that before I walk in the door! What I’m looking for is the doctor find something I’m not aware of so I can get some answers

Exactly like you described about your husband, for which I’m very sorry to hear, I appreciate you taking the time to reply

Take care

 

[Nikki J]

I have been examined by more neuromuscular doctors than I care to count between researchers, my own doctor and her junior doctors. The exams are quick. That doesn’t mean they are not thorough. As they fly through they are doing their assessment. It has happened to me more than once that someone has stopped repeated a test and said this is new and weak. And twice they found something I hadn’t noted yet. I even argued once but of course she was right and it became obvious to me over time.

A doctor like yours has done literally thousands of exams. The exams are all pretty much the same with very minor variations ( there are a few ways to test hand strength apparently)