question to wright: a scary study on fasciculations and cramps developping to ALS

[LaurentCH]

dear wright: there are four cases with BFS/BFCS with clean EMG developping ALS later on. Any comments on this would be appreciated: SpringerLink - Journal of Neurology, Online First?

best wishes

 

[trfogey]

We had a rather extensive discussion of this paper in this thread.

https://www.alsforums.com/forum/do-...ead-amyotrophic-lateral-sclerosis-center.html

Please note that there is a link to the actual paper (rather than just an abstract) in post number 18 of that thread.

I would suggest that you re-read the entire paper because you have misstated what was said in the paper, just as Blizna did in that thread, by stating that there were patients diagnosed with BFS and who had a clean EMG that subsequently developed ALS. Please note post number 50 in that thread and see if you can answer the questions about the paper that I posed to Blizna. I'm particularly interested in knowing which of the four patients had an official diagnosis of BFS and when they got it. He couldn't answer that question; maybe you can.

 

[Blizna]

trfogey: I really do not want to continue in arguing with you. But you are just not right here, here is the quote from the study:

A diagnosis of ‘cramp-fasciculation syndrome’ was made, and carbamazepine
prescribed. Case 1


case 2:
A provisional diagnosis of ‘cramp-fasciculation syndrome’ was made.

So who is missreading now? Hope it is enough to prove that you did not read it well.

You also called "mysterious" my contact with authors: feel free to email the main author, his email is there ([email protected]).

For anyone scared like Laurent (and me), note that except for the first case, none of them had widespread onset of fasciculations. Also note that later, the doctors observe "vigorous widespread fasciculations", most of us with BFS, except for calves, usually is not able to show the fasciculations to the doctors.
Sure there is BFCS but most of us do not have cramps on daily basis..the patients mentioned there did.

 

[rose]

Frankly, I'm not up on understanding emg results in general, so specific to fasciculation interpretation I'm pretty much clueless. However, I stumbled across this study (link to abstract below) a while back while looking for something else on the internet.

I did not in any way interpret what I read to mean that bfs could indeed be a first sign of mnd onset. But, I think it is important for those who's clinical exam reveals weakness and muscle wasting, but in not enough areas of the body to receive a definite ALS diagnosis.

This is what caught my eye:

We recognise that muscles may show evidence of chronic
neurogenic change in the absence of fibs-sw. We therefore
propose that the presence of fasciculation potentials
(FPs) in a muscle identified as showing needle EMG features
of neurogenic change should serve as evidence of
ongoing denervation, equivalent in importance to fibssw.
This criterion would obviate the need for the often
difficult search for fibs-sw in patients with clinically evident
features of ALS; in particular, in cranial-innervated
muscles and muscles of normal bulk and strength. For
example, although Finsterer et al. (1998) recorded fibssw
in some patients in bulbar muscles, de Carvalho
et al. (1999) found no fibs-sw in bulbar muscles in 15
bulbar-onset patients; fibs-sw were found in limb muscle
in only 7 of these 15 patients. In addition, in 2 of 28
newly diagnosed upper limb onset ALS patients, fibssw
were absent in the weak upper limb


and this...

4. Benign and neurogenic fasiculations
Although FPs have long been recognised as a characteristic
feature of ALS, they can be seen in normal muscles
(benign fasciculations) and they are not invariably noted
in all muscles in ALS patients. However, there are certain
features of FPs in ALS that confirm their importance
and allow them to be distinguished from benign FPs

It is not my intent to start a new furor over fasciculations, but, I thought posting this could contribute to a more intelligent discussion concerning interpretation of emg results, as well as benign versus neurogenic fasiculations.

I did not try to, but don't think I am able to view the entire text, only this abstract. Others on the forum, such as Wright should be able to, and could give meaningful feedback after reading the full version.

 

[wright]

I will address all four cases that are cited in the study:

Case 1:

A 37 year old man who in 1999 complained of disturbed sleep and fatigue and was seen by a physician. Nothing was found. In 2002 he still had similar symptoms, this time with "rubbery" legs. Again, nothing was found. Referred to a neurologist in 2004, this time with fasciculations and cramps in various areas of his body. These twitches and cramps were undoubtedly due to his condition, whatever that condition was . . . and in my opinion . . . the correlation between his fasciculations and cramps with his subsequent ALS diagnosis cannot be made. On top of that, he had no signs or symptoms of upper motor neuron dysfunction, so he couldn't have had ALS. PMA maybe, but not ALS.

Case 2:

A 55 year old man who was a blacksmith. Blacksmiths (especially at that age) . . . given their profession . . . are of course prone to fasiculations and cramps. He presented with cramps in his lower abdominal for over 3 years and then later noticed fasciculations. To me, that doesn't seem surprising in the least . . . again . . . given his profession. He was given a diagnosis of cramp-fasciculation syndrome (he also didn't have any upper motor neuron signs or symptoms). Nearly a year later he was again seen by a neuro and then shown to have upper and lower motor neuron signs and symptoms, including EMG evidence of ALS. This is a guy who simply developed ALS. There is absolutely no way they can prove his previous problems had a thing to do with ALS. They can speculate all they want . . . and that is what they are doing . . . but they can't prove it.

Case 3:

A 61 year old man who contracted shingles in 2003 and also had type II diabetes. Started noting fasciculations in 2005 and they continued for nearly 3 years. He later gets assessed by a neuro and was found to have ALS. Again, a man who developed ALS who also had other problems prior to it . . . problems that could be fully explained by his ailing health. As I stated previously, there is absolutely no way they can prove his prior cramping and fasciculations had a thing to do with his developement of ALS.

Case 4:

A 40 year old man who was an avid weightlifter and played competitive soccer. He complained of not being able to increase muscle bulk in his upper body. That isn't surprising given his age . . . and who knows if he knew "how" to lift weights. I see guys in the gym all of the time who have absolutely no idea what they are doing and never get results who are younger than him. He was seen by a neuro and fasciculations were noted as were cramps. Given he lifted weights and played competitive soccer, it isn't at all surprising to me. Was evaluated 6 months later and the same thing was found. Was then seen nearly 18 months later and was given a diagnosis of ALS based on upper and lower motor neuron signs and symptoms. I will repeat what I have already said: there is no evidence that his earlier cramps and fasciculations had a thing to do with his development of ALS. He simply . . . like the other three people . . . developed ALS.

In my opinion, this study is based on speculation . . . and in my opinion, these authors made the number one mistake in research . . . data bias. When research is done properly and accurately, the scientist seeks to DISPROVE their theory . . . NOT to attempt to prove their theory. That ensures that there is no bias when analyzing data.

Bottom line: This study means absolutely nothing and shouldn't cause anyone to worry.

 

[Elise]

My neurologist said they don't really understand the onset of fasciculations in ALS. He said they notice more patients who complained about fasciculations a long time before weakness or other symptoms. That it could be something like a paraneoplastic syndrome proceeding ALS.

 

[Blizna]

Elise, what a reassuring post..did your doc give some examples and timeframes?

Wright, good points, I would like to believe. However the onset of symptoms on the places that were affeceted by fasciculations years before makes quite clear it was preceding (the case 4 - twitching in upper arms and then wasting in these limbs). Also the age of the patients, below 40. How probable it was that they had fasciculations as entirely separate condition and then develop ALS in the age of 40..Just thinking that they are not stupid to publish something that they have no proofs for.
Also note that newer neurology books reads that "rarely fasciculations can precede the onset of other clinical findings by several months".
I looked to some older threads on this forum and is not unusual that people reported fasciculations before weakness...but still it is rare.

 

[Robynnblue]

Ok I must have missed something.:?::?:

Can someone please tell me how what Elise said was reassuring because for some reason it read the opposite to me.:?::?:

 

[Elise]

No he did not. I only asked about it . I don't know how, where and how long. There are more studies like this. Proofs it happens. You can find people on here with the same presentation.
This is only when it's ALS related. Not BFS so do not worry. It was the neuro who said this. There are so many studies and contradictions about ALS in general. Try not to worry about ALS. You know there are cases like that. It's written on paper. Anything can happen to you anytime. I think it's better for people like you who have BFS to not come on boards like this you will not get rid of your anxiety this way.

 

[Gusflower]

I don't really understand how people just by having fasciulations can develop ALS? Could it be a mental shut down thing by the brain or something? I read a part about how cells turn to suicide in ALS at the Packard Center. Lets hope that the Ceftraxione treatment becomes a real success that can halt the progress of most ALS patients.

Thanks Wright for summarizing the different cases.

 

[wright]

Blizna

I read that study and there is absolutely NO WAY they can prove a thing. Their data is anectodal at best. They simply made observations and with only four patients. That is hardly an extensive study. The old lithium studies done in Italy involved a lot more people than that and the lithium studies turned-out to be false. If they have proof, it wasn't published in that study, which means they don't have proof. Why? Because there is no way for them to prove it.

Again, I put absolutely no weight at all in that study. I don't care if case number 4 had fasciculations in his arms. He lifted weights for god's sake . . . of course he would. I lift weights and I have fasciculations all over my body as do my weight-lifting friends. If I polled people with cancer and asked if any of them watch television . . . and most of them would more than likely say yes . . . am I then going to say that watching television causes cancer? Of course I'm not, because the correlation cannot be made. Until someone comes-out with a study that proves their findings, I'm not going to believe it. That is how good science works.

Let's say for sake of argument that those people truly developed ALS and the disease onset occurred when their fasciculations and cramps started years and years earlier. That is four people out of how many? Millions and millions and millions. What are the odds? Incredibly small. There's a better chance of winning the lottery, getting hit by lightning and then finding a unicorn being ridden by BigFoot . . . all on the same day.

 

[trfogey]

trfogey: I really do not want to continue in arguing with you. But you are just not right here, here is the quote from the study:

A diagnosis of ‘cramp-fasciculation syndrome’ was made, and carbamazepine
prescribed. Case 1


case 2:
A provisional diagnosis of ‘cramp-fasciculation syndrome’ was made.

So who is missreading now? Hope it is enough to prove that you did not read it well.

No, it's not. It is sufficient to prove to me either that you haven't read the paper thoroughly, that you haven't completely understood what you thought you read, or you haven't thought through the implications of the interpretation you've done of what you have read.

I'll do you one better, Blizna. All four patients in the study were diagnosed with "cramp-fasciculation syndrome". Not just cases 1 and 2. Figure 1 of the paper shows the CFS diagnosis for each of the four, ranging from 6 months to 18 months before their ALS diagnosis (or death, in one case). I have never disagreed with that and never will. It is simply a fact stated in the paper, with no interpretation necessary.

What I have disagreed with is the idea that any of these patients had a official prior diagnosis of BFS. Neither the acronym BFS nor the phrase "benign fasciculation syndrome" appear anywhere in the paper. Show me the prior diagnosis of BFS, not BCFS or CFS and I'll agree with you.

But, if the first two cases had CFS (which you say really was BFS), then what about cases 3 and 4, who had CFS diagnoses as well, according to Figure 1? Is their CFS somehow different than that of cases 1 and 2 -- a form of CFS that isn't BFS? If so, how do you tell the difference? Obviously, you don't think I can understand what I read -- is it any wonder that your reasoning here seems confusing to me?

Or are you being inconsistent in your reasoning?

To be consistent in your reasoning, you should be asserting that all four cases had BFS. But you don't here and you didn't in the other thread. You've always said just two of the cases in the paper had BFS. Why is that?

It looks like you are assuming that BFS and BCFS/CFS are the same condition -- under some unspecified conditions, not all (see cases 3 and 4 in the paper). I don't make that assumption. And I think that the authors of this paper are attempting to make a distinction, too. From the Abstract of the paper:

Clinical diagnosis of amyotrophic lateral sclerosis (ALS) in patients presenting with cramps and fasciculations may not be evident at the first consultation. Sequential reviews, clinical and neurophysiological, form an important part of clinical practice in such cases. Recent attempts to delineate a more benign group with cramps and fasciculations have lacked information on the long term profile, both clinical and neurophysiological. Four patients who were initially diagnosed as suffering from benign cramps and fasciculations, but who subsequently progressed to ALS, are described. We propose that a diagnosis of benign cramps and fasciculations should not be considered secure without a minimum follow up of 4–5 years.

Note the parts that I have bolded and/or underlined. Four times in that single paragraph, the authors had the opportunity to say "cramps and/or fasciculations ", or something similar. That would have included both BFS and BCFS. They didn't, not once.

Notice how the authors characterize the study patients -- "Four patients who were initially diagnosed as suffering from benign cramps and fasciculations". The initial diagnosis -- BCFS, not BFS.

Finally, as I said on the previous thread that I linked, neither the acronym BFS nor the phrase "benign fasciculation syndrome" appear anywhere in this paper. How can the authors be referring to something they don't even mention, Blizna? If they meant to refer to BFS, they would have mentioned it specifically. If they did mean BFS as well as BCFS, then they were very sloppy in their writing, and that should certainly bring their science into question.

The combination of the two symptoms is the key factor in the paper. It's the factor that initiates the enhanced followup from the authors of the paper. It is the red flag because of its close association with ALS.

The authors of the paper are precise, Blizna, and you are not. And it is that imprecision that causes you to put words in the authors' mouths. And when you put words in the authors' mouths, you are using their authority to push your agenda, not theirs. That's why I call you a fearmonger, Blizna. You twist science to fit your agenda, instead of letting the science speak for itself.

Sure there is BFCS but most of us do not have cramps on daily basis..the patients mentioned there did.

And that's what makes them different from you -- both symptoms on a daily basis. You have BFS; they had BCFS. Two different conditions. You can't just wave your hand and casually dismiss facts that are inconvenient for your argument. Not if you have any kind of personal or scientific integrity, that is.

Do you have that integrity, Blizna?

Your contention that this paper is relevant to BFS appears to rest on an assumption that BFS and BCFS are the same condition -- that the two terms, along with "cramp-fasciculation syndrome" (CFS), can be used interchangeably. The authors of this paper appear to dispute this assumption, in both their methodology and their reasoning.

I invite you to defend your assumption, Blizna. Do you really think that BFS and BCFS are the same condition? If you can prove to me that they are the same condition, I'll concede that not only two of the patients in the paper had BFS but that all four patients in the paper had BFS. How's that for an incentive?

But you have to prove it to me. Not just assert it. Not just claim that "everybody knows it". Not "email the authors of the paper and you'll see they agree with me".

Proof.

Real. Scientific. Proof.

I'm game for it if you are.

 

[Blizna]

trfogey: read the paper to the end. Then you read that fasciculations OR (not both) cramps cannot be labeled as benign until .... , unfortunately.Yes, they did not mention BFS rather than BFCS..but go to bfs site and you will see that many people there were diagnosed with BFCS or just benign fasciculations and cramps...there is no proof and you know that. That is the reason why studies like that are published...to show that sometimes cramps and fasciculations are not benign. If there was not so many people with BFCS on the site, I would not worry.

 

[trfogey]

trfogey: read the paper to the end. Then you read that fasciculations OR (not both) cramps cannot be labeled as benign until .... ,

Yes, I saw that in the paper, in the last paragraph:

In summary, on the strength of currently available evidence the clinical profile of a benign condition comprising cramps and fasciculations cannot be reliably defined. Our experience of four cases prompts us to recommend that without a structured follow up over a minimum of 4–5 years, no decision about the benign nature of fasciculations or cramps should be made.

The first sentence in that excerpt is an accurate restatement of what was described in the paper. The second sentence, however, is a conclusion not supported by the evidence presented in the paper. That sentence directly contradicts their stated purpose for writing the paper and leaves the authors open to challenge on their ability to correctly interpret what it is they are actually observing.

Surely you aren't going to stake what's left of your reputation here on an offhand remark that should have been spotted and required to be clarified during peer review prior to publication, are you? You and I disagree on a lot of things, but it would truly be a surprise to me if you would be satisfied to lean on such a weak reed.

unfortunately.Yes, they did not mention BFS rather than BFCS..but go to bfs site and you will see that many people there were diagnosed with BFCS or just benign fasciculations and cramps...

And those people with both fasciculations and cramps have reason to be concerned about the conclusions of this paper. That's what the authors set out to say and what the case studies that they cite actually support -- people with both cramps and fasciculations need to have longer and more extensive followup and a single "clean" EMG at the time of CFS diagnosis is not adequate in and of itself to call the condition benign.

And what does the number of people at another site have to do with arguments that you are making here? If what you are saying is true, the BFS site is where you should be making your arguments, not here.

there is no proof and you know that. That is the reason why studies like that are published...to show that sometimes cramps and fasciculations are not benign.

Yes, I knew that you can't prove that BFS and BCFS/CFS are the same condition, because they aren't the same disease any more than PLS and ALS are the same disease. Related diseases, yes, but not the same. I made the challenge to you so that you would see the absurd claims you were putting in the authors' mouths.

If there was not so many people with BFCS on the site, I would not worry.

So many people with BCFS here? Given how few people here want to even consider a BFS or BCFS diagnosis, even when they get the diagnosis from an actual neurologist, I wouldn't think that there would be many BCFSers here. A handful would have been my guess.

 

[Blizna]

trfogey: I was reffering to bfs site..many sufferers there do have BFCS or been given vague diagnosis of benign fasciculations and cramps. The reason I discuss it here is just to do not scare them on their site, however I saw they discussed it there and it did cause massive anxiety to lot of them.
I agree this article mentiones BFCS but it is not more reassuring for people with BFS as lot of them have cramps.
Do not get me wrong, I personally hate studies like that but I simply do not believe that the ALS has nothing to do with their BFCS diagnosis, statistically this is nearly impossible. If all you say is that BFCS patients should be concerned more. But still BFCS and BFS overlaps, that is why I am worried.

And as Elise said, it just happens as the fasciculations are still not clearly understood, as stated in books dealing with pathology of ALS.
There is a very old thread on this forum, I think it was called "fasciculations before atrophy"..many people there stated they had fasciculations before the other symptoms..