Question: Thanks for all your responses, Doctor. You've been great. I closed out my other queries with high marks, very appreciative of your time with me. I'm trying to get over the ALS concerns (I'm the guy from Indiana with the generalized twitching these last 7 or 8 weeks). Without any weakness I can note (nor my PCP noted last month), I'm wanting to move on. I guess this article really troubles me:

http://www.alsa.org/about-als/2013-aam/stories/2013-aam-stories-0000.html

This ALS patient discusses sporadic fasciculations as an initial symptom when most everything I read says it's highly unlikely to not have associated discernible weakness with ALS twitching. It's really my last stumbling block. Is this an outlier case or have I missed something? The site is, of course, reputable. It sounds like he went from some twitching in various places to a bulbar onset diagnosis...which makes NO sense to me. Your thoughts?

Thanks again,
XXXXXXX

Cleveland? Yes! I thought I might be able to find a LeBron XXXXXXX XXXXXXX for my son. :)

1. Exactly how long has it been since the twitchings began?

8 weeks ago...third week of September

2. Have you seen a neurologist yet? If so, what were the conclusions?

No Neuro, just my PCP about 2 weeks into my twitches (Early October PCP visit. Put me through a few limb strength tests, checked knee reflexes and did a couple of coorrdination/dexterity tests of which all seemed good).

3. I seem to remember that NO EMG had been done to date, correct? If not, why not?

No EMG. Had thought I "should know," one way or the other in the near future (as in progressive symptoms or a long passage of time with no weakness).

4. When the fasics first started- my recollection is that they started in the Upper Extremities but then, quickly started being noticed in the lower extremities and at present they are clearly not confined to a particular limb or region of a limb.....is that correct?

That same night I noticed a couple twitches. One was in my left upper arm and the other in my right thigh, I believe. Didn't think much of it then as I've had twitches in my lifetime...although just for a day or two in years past and not generalized. This was very quickly generalized (same day or that same week for sure). I had been very fatigued and stressed from work and my daughter's tonsillectomy for about a month.

5. Also, the fasics have for the most part slowed down compared to what they were like when you first noticed them.

Slowed down? Interesting question. Probably the same frequency. I had a day or two this week where my arms were pretty quiet but I had more activity in my calves. The more I read and research online though, the more I can see my anxiety rise...which leads me to believe I may have a few more twitches. That's hard to say though. I've been under stress for the 8 weeks now.


6. There continues to be no sign of weakness, unintentional loss of weight, tripping/stumbling other than over trip rugs....I'm sorry, THROW rugs....etc.

No sign of weakness at all. My walking is fine (even "test" it walking on my toes and heels). My hands perform all the normal tasks fine (buttoning my shirts, shaving, turning keys, etc.). I could jump rope, run up the stairs, lift ladders, luggage, etc. with no changes.


7. Any family history either of twitching limbs, ALS, or any type of neurological disease?

No ALS in my family. I have not inquired about twitching though. I'm afraid family members will "Google" it and start worrying for me. My remaining family is fairly small anyway.

There's no doubt, Doc, that the case I sent you the link on bothers me. There is also something I read, on a government health site, where Dr. Cavalho reports "some" cases of fasciculations and a clean EMG PRECEDING an eventual ALS diagnosis. I'm guessing (hoping) that's a very, very small number. I think that particular doctor reported just two cases. I believe the discussion was about "excitability" of nerves being a possible precursor to ALS in cases, rather than the standard thought that fasciculations are a product of a dying nerves "signaling for help." That article REALLY bothers me. They were saying it's possible that it could be 3 to 6 months before progressive symptoms appear.

I'm at my wit's end at 8 weeks. 6 months? I have some twitches. They're not centered in any one area. I don't note any weakness. My PCP didn't do comprehensive testing, so I guess it's possible there's "hidden" weakness. I'm performing my daily functions as normally as ever though. I'm just at a tough place. Just saw this, Doctor. Maybe you can help me interpret this, as to my description of 8 weeks or "random" (I hope) twitching...
XXXXXXX


Hello my name is XXXXXXX

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 XXXXXXX 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 XXXXXXX
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
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.


XXXXXXX
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 XXXXXXX Eisen MD., FRCPC
Professor Emeritus UBC Neurology

He also added regarding a question on fasciculation distribution XXXXXXX 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 XXXXXXX x

Thanks again,
XXXXXXX

Anytime is fine. I'm taking my family to my in-laws for the holiday but my cell phone is listed.

Although Helen's long, long post was more than either of us probably wanted, I thought the words of Dr. Eisen, within Helen's post, were encouraging. Dr. Carvalho's were interesting to me as well in that I misinterpreted his take on fascics months before weakness in that they MIGHT be seen in other areas of the body but that would be after ALS was present in at least one area.

Thanks again, Doctor.
XXXXXXX

Thank you, Doctor. I particularly enjoyed the Cuban Missile Crisis reference. I don't see those every day! I remember watching the movie "Missiles of October," with XXXXXXX Devane as JFK, many years ago.

I'll look forward to seeing you. I have an issue in that you're not considered in my network, so my insurance will cover just 65% but that's after my $800 deductible. So, I'll be paying for my initial visit and that's ok. I can cover it. I'd prefer to see you as, and as strange as it may seem, I feel I know you a bit. I think I'd be far more comfortable in this way than seeing a local neurologist. I hope this is ok. It may rule out more expensive diagnostic testing if it comes to it but I suppose I can cross that bridge if necessary. Is it ok to see you for just the clinical exam to start...and possibly any suggested blood work? Please advise.
Thank you again and Happy Thanksgiving, XXXXXXX