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Emails from Profs Carvalho and Eisen

PostPosted: October 3rd, 2013, 6:52 pm
by Little Lost
Hello my name is Helen.

I have been around here for 2 years, I have BFS, and I live in the UK. As there have been many postings concerned the publication of articles claiming that fasciculation potentials MAY be one of the earliest changes in motor unit physiology in ALS I decided to email some of the authors. One email was to Professor Mamede de Carvalho in Portugal,and the other to Dr.Eisen in Canada Both are leading experts on ALS. Their credentials in this field are unquestionable and I agree with the following quote

Quote from one BFS member TWITCHDOC
"Just a side note, Prof. Carvalho is considered to be the best MND
specialist in Europe, so is Dr.Eisen in Canada (his books are
textbooks for MND specialists around the world), they are not some
neurologists who could misinterpret findings or do not know how to
correlate findings, you probably read just the abstract because I have
read many of their studies and they are pretty extensive, including
shape and waveform description of fasciculations etc. They presented
also a case of a "benign" MND, which started with fasciculations but
stabilized after a few years with only slight disability."

Anyway this is what I wrote under the heading “ WHERE DOES THIS LEAVE US WHO HAVE A DIAGNOSIS OF BFS” and their replies ( which they knew I would post)follows.

Dear Professor Mamede de Carvalho.
My name is Helen and although I have a background in medical research my PhD is not in neurology/neurophysiology, so I guess I am making this query as a lay person. It is about your article

Fasciculation potentials and earliest changes in motor unit physiology in ALS
J Neurol Neurosurg Psychiatry 2013;84:963-968

Although I don’t post, I am a member of the "about benign fasciculation forum", an online community of BFS sufferes that has been going for 11 years. The people on the site have generally had wide spread fasciculations that have either been witnessed by neurologist, or that have been captured on needle EMG, with no other abnormality seen. As the association between fasciculations with ALS is evident, it is not suprising that the majority, have a real deep fear of developing ALS, a fear that has at times hindered our ability to live proper lives .

As far as I interpret most of the people on the forum were well balanced productive professional people until those fasciculation potentials showed up on their EMGs ( or were confirmed via direct observation by neurologist). What typically happens next is the patient is diagnosed as having BFS, and some people have to wait for a follow up EMG given 6 -12 months later just to be extra sure of diagnosis.

The mental anguish involved in this wait between EMGs, or for others to accept no other symptoms are evolving is awful for us. (Have you ever put the word fasciculations into Dr Google or even PubMed..... enough said). There are people who have lost their families, become depressed and withdrawn living under what they feel is not just a possible death sentence, but a horrific death from one of the most feared diseases in medicine. Functional neurology is high, and on the outside we act normal, but inside some of us are terrified. Many members spend the follow up time strength testing their muscles every day. There are whole sections of the forum dedicated to it. Also having relentless 24hr widespread fasciculations is a visual reminder of the wait. I don’t think we would exhibit this kind of behaviour if it were a possibility of say breast or prostate cancer, but this is different, this is ALS.

However there was always an end point to all the anxiety, and that was the passage of time. There was also the fact that apart from a few exceptions, early BFS and early ALS were different. Until recently it was explained to us that weakness came first then fasciculations, and with ALS any fasciculations in the EMG always showed up in the company of other findings. This was the common dogma given by all the neurologists from various locations in Europe to Mayo in USA. It was the mantra we lived by, and got so many of us through that follow up period.

Recently though there have been a few articles challenging this, saying cortical hyperexcitability and its symptoms including fasciculations may come first, perhaps before weakness and other EMG changes, and it has taken away our safety net. Your article and one by Dr.Eisen
"Fasciculation potentials: a diagnsotic biomarker of early ALS?"
Are now quoted and discussed on the site, (viewtopic.php?f=5&t=19641&p=147218&hilit=+EISEN#p147218
) Many of us are now doubting the reassurance we have been given that our fasciculations are indeed benign and are wondering if they are actually an intermediate stage i.e. pre ALS. We know you say the potentials in patients with benign fasciculations were simpler than FPs in ALS patients with normal TA muscle strength, but we are never told anything about our fasciculations, just that we have them.

Let me highlight my case only because it is so representitive of a BFS sufferer. 2 years ago started getting rapid vibrations in limbs and visual fasciculations in calf, every investigation clean only abnormality were various fasciculation potentials on needle EMG so provisionally diagnosed with probable BFS, but told to return for repeat EMG in a year to make sure it was nothing sinister, any weakness develops I was to come back. I was then left to sweat out the whole year, it was hell, the aboutBFS forum was my saviour. So was the old dogma weakness before twitching. So over the year the fasciculations spread everywhere and eventually I had my follow up EMG it showed no changes, except what I had also felt, i.e. that the fasciculations were now much more widespread and seen in more of my muscles . My neurologist concluded BFS and discharged.

I felt really good, still twitched all over, but ready to get on with life, I was so happy until someone posted your article on the forum, and life has stopped again. I now feel sad all the time, and I am a mother to 3 young children. I thought the waiting was over, but now I feel it may only be beginning, in the order of fasciculations first, weakness later. Following your article I did try to ask about the morphology of my fasciculations but in the UK NHS is a bit different, we don’t get to see records and reports, and they said it was irrelevant to my diagnosis. My story is typical, of so many forum members who are confused following your article.

Please understand you and Dr Eisen are respected so your words and articles are analysed, because many of us are scared and have no one that understands what it is like to have the threat of this hanging over us the what ifs.... like a cloud. So we try to seek reassurance by reading articles by people who do know.

In light of all I have said I was just wondering if you could give me any advice or reassurance, ( which I could then pass on if you wouldn’t mind) about fasciculations on EMG progressing to ALS. Anything you can offer would be so good. I know you might not have statistics to hand but you have clinical knowledge, which has more value to the lay person like me. Something I could post that could be understood by people with various backgrounds. Some of us have tried to ask our neurologist about your research, but have generally been met with blank stares. From bench to bedside, research to clinic doesn't always run smooth.
With many thanks for your time.

So this is their replies. First Mamede de Carvalho (Portugal), who showed that in 21/61 ALS patients with normal strength TA muscles, FP was the only abnormality in this muscle ( actually 6 of these 21 had borderline increased neuromuscular jitter), and this anticipated other EMG findings by 3-9 months.

21 Sep (12 days ago)
Dear Helen
yes, your e-mail summarizes quite well the problem and what I think about it
I am sorry my paper increased confusion and anxiety regarding this relevant problem

As you can imagine I have many similar patients in Portugal, asking my opinion. I have observed many paients with bening FPs, I do not remember to be wrong about the diagnosis, benign FPs vs ALS. The reason is simple. ALS pts tend to have upper motor neuron signs at presentation, fasciculations are more widepread, weakness is common (even if subclinical) and the neurophysiological data is typical. In my paper I selected one single muscle, as the target muscle, to show that FPs anticipate other changes. But, although I could find many tibialis anterior (TA) muscle without any other change than FPs, more typical changes fo ALS were found in other more affected muscles at the same time. This is the problem, when I describe that TA showed FPs only because was not affected that did not represent that other muscles were normal, as well. Indeed, in all patients other muscles were clearly abnormal on EMG.
This problem is relevant, the only way to help people is to describe how benign their condition is. For this reason I am runing the questionnaire attached to people with benign Fasciulaions. Would you agree to participate by sending it back with your data, your identification is going to be deleted

best wishes
Mamede de Carvalho
Neurologist and Neurophysiologist
Professor of Physiology - Faculty of Medicine
Instituto de Medicina Molecular - University of Lisbon
Lisbon – Portugal

So I think he is saying that although FP were the only abnormality picked up in the TA muscles, these were muscles belonging to patients who already had clear upper motor neuron signs and severe abnormalities in every other muscle he tested ( they had criteria fitting ALS). Importantly he is not saying ALS starts with fasciculations, far from it, he has no proof of that he doesn’t have before and after patients. What he is concluding is that in patients already sick with ALS then fascicultions MIGHT be present in other muscles 3-9 months prior to weakness developing in that specific muscle. That is a big difference. This fits in with the overall cortical hyperexcitability phases seen in ALS. Migraine suffers who have aura have cortical hyperexcitability, perhaps then all of these patients have fasciculations, who knows. The survey he is referring to I guess is the one that can be accessed by TWITCHDOC, if this is not correct I can supply a copy for people to email to him.
Second reply was from a huge authority on ALS ( check out his articles on Pubmed) Dr Eisen, and this is what he said.

I am presently in the UK on partial vacation. I would be happy to write at length, but this may take a while. In any event from 40 plus years of clinical experience it is extraordinarily rare for ALS to truly present with fasciculations and in my opinion if after 8 months there are no other clinical features then it is not ALS. I do hope this reassures
Andrew Eisen MD., FRCPC
Professor Emeritus UBC Neurology

He also added regarding a question on fasciculation distribution
Andrew Eisen
Actually diffuseness is more likely benign since the onset of ALS is clinically focal. Please be convinced that ALS seldom begins as fasciculations. When (or of it does), the problem is that these patients have not been clinically or electrically examined by experts, so that subtle signs of ALS, are very likely to have been overlooked. The bottom line ALS does not present with fasciculations alone, VERY VERY rarely.
Hope this helps

(I think he may be referring to the Walton study that has been cooked to burnt on this forum).Anyway 40 year of dealing with ALS and his reply is pretty clear

Interestingly the 2 replies differ on their views on fasciculation distribution, Widespread vs focal, but I don’t think it is so easily defined. I think it is like a rash, some patients with chicken pox present with them everywhere, some only a few on the face, they are both chicken pox and both distributions are common. Perhaps fasciculations are like that, or perhaps they start focal and then become widespread ( I am digging my own grave now as that is my presentation AaaaaH), or perhaps widespread and then focal. Just not sure the answer to this particular question is out there.

Anyway I will lurk back into the shadows, but wanted to share this with you. I have been reading nearly everyday for just over 2 years, and I want to say a huge thank you, without this site I think I would have exploded and that would be messy.
Take care
Helen x

Re: Emails from Profs Carvalho and Eisen

PostPosted: October 3rd, 2013, 9:54 pm
by Jlc
I am sure this will be very helpful for many people on this forum. Actually, in my opinion, this is worthy of a sticky.

Re: Emails from Profs Carvalho and Eisen

PostPosted: October 4th, 2013, 4:54 am
by TwitchyDoc
This is great, I'm really happy such authorities are willing to mail to us! As for the TA study, it was among ALS patients and BFS controls, so dont worry. As dr.Carvalho mentioned, he choosed one muscle that was strong and had fasciculations only..but in people who already had ALS.

Anyway, the survey he is running - PLEASE PARTICIPATE! This is the only way how to make mroe neurologist aware of BFS with solid paper done by leading experts.

Re: Emails from Profs Carvalho and Eisen

PostPosted: October 4th, 2013, 5:14 am
by christo
I also believe this one should be a sticky.

Also, I really thank you Helen because I think all the previous post about the studies from Dr Carvalho and Eisen were the one that make me the most anxious when I was in the beginning of my BFS. You just killed all the anxiety coming from these post, thank you so much for me and all the newcomers.

Re: Emails from Profs Carvalho and Eisen

PostPosted: October 4th, 2013, 7:06 am
by bobajojo
Fantastic post Helen! I agree, I would love to see this bumped to a sticky.


Re: Emails from Profs Carvalho and Eisen

PostPosted: October 4th, 2013, 12:13 pm
by RGB
A very useful post Helen, thank you.

The apparent discrepancy regards widespread fasciculations MAY be in part due to how the term is being used... Widespread within a single muscle group or widespread within the body. These two uses are clinically different but the term is used interchangeably.

Thanks again though for a great post, you can't ask for more than reassuring FACTS.


Re: Emails from Profs Carvalho and Eisen

PostPosted: October 25th, 2013, 9:28 am
by tiffskuirl
I needed this today. I am going to cling to this like a raft in stormy waters. Thank you so so so so so much.

Re: Emails from P4fs Carvalho and Eisen

PostPosted: October 25th, 2013, 2:59 pm
by Little Lost
Thanks so much for your replies and I am so glad the emails are of some use. They knew I would post them on this foum, and I sent them the links to this site. Glad I could give something back to you people, who have been silently saving my sanity for the last 2 years.

tiffskuirl keep stong....I know how you feel.....I still wobble.

Thanks for putting forward the point about distribution, never thought of that, you must be a better scientist than me.
Helen x

Re: Emails from Profs Carvalho and Eisen

PostPosted: October 27th, 2013, 3:49 am
by Sadface
I'm going to sound really stupid now. But those long words in the emails..... I don't understand. I don't want to google them either. In simple language, what are they saying??

Re: Emails from Profs Carvalho and Eisen

PostPosted: October 27th, 2013, 4:56 am
by Yuliasir
they are practically saying that if you do not have clinical weakness, then no matter how and where you twitch, it is not ALS.
Nothing really new.

Re: Emails from Profs Carvalho and Eisen

PostPosted: October 27th, 2013, 5:23 am
by Sadface
Thanks. It was hard with the medical terms

Re: Emails from Profs Carvalho and Eisen

PostPosted: October 28th, 2013, 7:30 pm
by Little Lost
Hee Hee Yuliasir...I liked that summary....

Helen x

Re: Emails from Profs Carvalho and Eisen

PostPosted: November 18th, 2013, 12:24 am
by InvisibleTwitches
Wow, very nice post, very informative, and direct from experts nonetheless!!

I was at once reassured then at once scared, but I believe the issue is mainly my own. You would think, 3 years into twitching and still as healthy as ever, I'd be releaved. But my question to the doctors would be:
Would this general principle -- twitches for months without weakness -- hold true to each new location/body part/muscle where twitches take place?! That would concern me, cause the tongue twitches are relatively new for me.

Thank You

Re: Emails from Profs Carvalho and Eisen

PostPosted: November 18th, 2013, 12:35 am
by InvisibleTwitches
Actually, I'm more concerned after reading "people wait 6-12 months" between follow up EMGs! I never knew of this!? Is this the new standard to be in the clear?!

Coupled with my questions of twitches in new locations.


Re: Emails from Profs Carvalho and Eisen

PostPosted: November 18th, 2013, 12:58 am
by Yuliasir
Ryan, you are 3 years in. you had waited 5 times 6 month or 3 times 12 month already. EMG is not sepatated from any other processes in your body, so you do not need to wait for another 6 or 12 month to be sure you have BFS not ALS.