Brief Answer:
NOT ALS

Detailed Answer:
Good afternoon. My name is Dr. Saghafi and I am happy to answer this important question for you.

I've carefully read over your description of your problem as well as the fact that 2 neurologists as well as an EMG test have said, NO to ALS as a possible cause of your symptoms. So, on the surface let me say that I believe you SHOULD take those opinions very seriously and now you have a 3rd to back the others up. But hopefully, I'm going to provide you with more educational impetus to make a believer out of you.

I admire your zeal for knowledge by going on the internet and learning all you can about ALS and reading other people's encounters and experiences. HOWEVER, as you well imagine my caution to you as well as ALL OTHER hunters for medical knowledge by using the internet is to not apply what you read to your situation. The value of medical information obtained from the internet is really only as reliable and truthful as the person using it and though that probably sounds cliche it's absolutely true.

Adding to the textbook knowledge that your neurologists have who told you to forget about ALS (no matter what else you ran across the internet) they also have the experience and have seen ALS many times. They didn't like the way that diagnosis LOOKED on you let's say....why would you want to disagree? :)

Let me say this. I've been diagnosing and treating ALS at the VA Medical Center in XXXXXXX OH now for years and I cannot remember the last time someone came worried about the diagnosis who had your symptoms. How do they come then, you may ask? Most common reason I see patients who ultimately get diagnosed with ALS is the following- Unexplained clumsiness while walking, stumbling (sometimes falling) or other weakness such as in the arms where picking up gallon jugs or taking out the trash is difficult all of a sudden. Another major way I see these patients come in is tremendous and unexplained loss of weight. Everyone is thinking, CANCER....but then, the EMG and the examination which detects UPPER AND LOWER motor neuron signs practically clinches the diagnosis.

That's just not your case. But let's be clear....that's not to say that you may have something going on causing these symptoms but thank goodness it's not a neurological or neuromuscular issue. It still could be something but in all likelihood that will turn out to be fixable....just got to do a little more searching. So let's take a bit of a more indepth tour of the epidemiology of this disease so I can further make my case for you.


A few words on what we refer to "Juvenile ALS" This is taken to be ALS which has its onset prior to age 25. These cases appear to occupy about 10% of all described cases. However, these young onset cases are almost always associated with a family history of ALS which I don't sense you have. They almost all have tongue fasciculations (or twitching) at the time they present to medical attention and all cases which have had EMG studies done are ABNORMAL. The percentage of cases of Juvenile ALS since the beginning of when they were described in 1850 to the 1950's was in the range of 50% of all affected persons.

However, over the next 3-4 decades that percentage dramatically DECLINED to 10% or less. It is not clear why this dramatic decrease in case reported incidence, however, that is what the numbers show.

At present, the average age of onset for ALS is taken to be 65 years. More men than women suffer from this disease as well.

I can't recall the last time I saw a patient ultimately diagnosed with ALS coming in with complaints of cramping or twitches who was worried of that diagnosis or who turned out to have it upon further testing.

There is a very comprehensive and nice review article on the pure epidemiology of ALS as it has come to us through the past 2 centuries that you may be interested in reading. I don't know if you can open the article up at this link but it talks extensively about the characteristics of Juvenile ALS:

http://brain.oxfordjournals.org/content/early/2012/06/01/brain.aws144.full

Personally, based upon what you have presented I believe you MAY have a condition known as BENIGN FASCICULATIONS and this is not that uncommon. You'd be surprised to know how many people have muscular twitching underneath their clothing that you wouldn't even imagine! I'm sure the other tests that were done by your neurologists such as MRI, spinal tap, and the labs were done for the purpose of ruling other things out. You probably know that there is no single test currently available that positively rules in or out the diagnosis of ALS except biopsy of muscle and nerve sent to pathology but trust me please when I tell you that you should not be sacrificing good muscle and nerve that a young person such as yourself can certainly use for better things than to get a negative diagnosis.

At any rate, so long as your neurological examinations were deemed normal as well as the EMG and you've got a NEGATIVE FAMILY HISTORY of ALS then, I would trash the notion of having ALS no matter how much twitching or cramping your muscles were doing and talk with your primary doctor or neurologist as to what else could be causing all of these annoying symptoms. If it's BENIGN FASCICULATIONS it is treatable but I'd do the full metabolic or other workup first before jumping into medications.

So in conclusion, I agree with your neurologists and hope you can put your mind at ease with the above information. I think the chance of you having ALS based on the information above is about as likely as it is for The Moon to decide to start orbiting XXXXXXX instead because we just got too boring for it to stick around! HAHA!

If the information I've provided has been of use to you I'd appreciate a bit of written feedback so that I may know how well I hit the mark at answering your questions. Also, if there are no further questions or comments on this issue would you be so kind as to CLOSE THE QUERY on your end so that the network may archive this case for the future as necessary?

I would also like to let you know that if you'd like we can continue these discussions on this network if you specifically direct questions to my attention (DARIUSH SAGHAFI, MD) or if you'd like to even do a live WEBCAM telemedicine chat please look me up at www.healthTap.com/drsaghafi. I am in the state of OHIO. I am on shifts from 3a-7a Wed-Sat. That way you may be able to show me what the fasciculations look like as well as their distribution.

All the best to you.

This query required 120 min. physician specific time for review, research, and final draft documentation and envoy

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Brief Answer:
Thank you for additional information

Detailed Answer:
Thank you for the additional information. My understanding is that you are diagnosed with pseudotumor cerebri? Is that a REAL diagnosis on the chart or is someone THINKING that maybe you could have that? True pseudotumor affects about 1/100,000 people in the U.S. so it is somewhat of a rarity. How much was your opening pressure and what does the MRI look like? Can you upload it to our system or at least copy out the results from the radiology report?

If pseudotumor (which is an antiquated term-- we now call it IDIOPATHIC INTRACRANIAL HYPERTENSION or IIH) is clearly the working diagnosis then, my next question is, "with what agents is it being treated?" Some of the medications to treat IIH themselves can cause muscle cramping such as certain diuretics (Diamox is one).

As far as the fasciculations of the muscles are concnerned I am unaware of that particular symptoms in association with or caused by IIH. I've never seen it and I've never read any articles or case reports which list it as a feature so those fasics are separate.

BUT THEY ARE NOT ALS FROM EVERYTHING ELSE WE'VE TALKED ABOUT.

Now to your questions in this 2nd round of questions:

1. I am sorry to ask so many questions, but does it matter that I had my spinal tap and MRI done by someone other than my neurologist? Should I have him do one just in case?

ANSWER: NO and NO.

As I said before I would not concern myself with invasive procedures such as spinal taps because they SHOULD NOT have been obtained with the idea of ruling in or out ALS. That test is not indicated to check on that diagnosis. They would've had to be looking for other things. No matter who does the tap so long as spinal fluid was sent to the lab (and BTW the lab would've said it wasn't spinal fluid) the results are not going to change when someone else does it. You do not need another tap. And even more so for the fact that you are saying there is a diagnosis of IIH. Tapping someone under those conditions and with that diagnosis is a RISK of nontrivial proportions. No tap.

2. Also, would BFS cause one area to be a "hotspot" such as my upper right body area. I have the cramping in my right forearm 24/7 and also my bicep area as well. The twitches come and go throughout the day, but mainly stay on that side and it I can't really see the muscle moving underneath, just can see the skin going "boing, boing" on my arm, if that makes sense.

ANSWER: There is an entity in the literature known as CRAMPING FASCICULATIONS SYNDROME since BFS really doesn't have fulminant muscle cramping associated but CRAMPING/FASC SYNDROME does. However, if the EMG was dead normal for any evidence of myotonia (i.e. muscle cramping) then, it is unlikely that it is of a neurological or neuromuscular origin.


INTERESTING FACT: DID YOU KNOW THAT ANXIETY AND STRESS ARE CONSIDERED THE 2 LEADING RISK FACTORS FOR THE DEVELOPMENT OF ACQUIRED FASCICULATIONS AND CRAMPING FOR WHICH MEDICAL CAUSES CANNOT BE FOUND?


3. Lastly, does it matter the EMG was done on the left side of my body, when now I am feeling the twitching/cramping and shakiness on the right arm? Would it have picked up ALS no matter where the needle part of the EMG was located/tested on?

ANSWER: IT DOES NOT MATTER

EMG signs of abnormality would be expected to be abnormal independent of side chosen by the operator. If it were my call I may have asked the operator to please muscles in the most affected limb but again, no matter which side you choose....if there is ALS in the body (even if it chooses to affect only one side initially more than another) by the time it reaches a point where EMG is relevant for testing you should see problems no matter which side you choose.

4. Also, just wanted to add, my right arm will shake a bit when lifting it up and my wrist has some weakness as well. Is that common to experience this, under a lot of stress?

ANSWER: STRESS/ANXIETY can definitely cause there to be fasciculations, are associated with muscle cramping due to hyperexcitability of muscle nerve junctions which can be easily excited when the person is in a heightened state of anxiety and has a hard time just relaxing.


In conclusion, and taking into account some of the newer information that you are referring regarding your diagnosis of IIH I would say the following:

1. I am no more moved by the new information to change the position of the likelihood that you have ALS. Remember The Moon orbiting XXXXXXX analogy? Still true

2. I MIGHT consider your asking the current neurologist you are with if any of your symptoms of cramping and fasics could be due to any treatment you may be receiving for the IIH. If you are not taking anything specifically for that condition or if it truly not a working diagnosis yet and simply being contemplated then, would he/she consider a diagnosis of CRAMPING/FASCICULATION SYNDROME or NEUROMYOTONIA as a possibility?

3. If the answer to considering neuromyotonia as a possibility were YES then, would they also consider potentially REDOING the needle portion of the EMG to include affected muscles you are referring to on the right side and especially those muscles which you know cramp often?

Take a quick look at the following link that I think you will find comforting and applicable to your case on the cramp fasciculation syndrome:

http://rarediseases.info.nih.gov/gard/6205/cramp-fasciculation-syndrome/resources/1


The following is the abstract from the original article that appeared in Neurology's Green Journal (1991) where they coined the phrase CRAMP FASCICULATION SYDNROME:

http://www.neurology.org/content/41/7/1021

Mind you that I also know that as you search these links and other things you are going to run across many stories and accounts of people who are going to say that they had all these things before finally being a diagnosis of ALS. I do not deny that those people are being honest, truthful, and their stories are what they are.

However, your picture as presented at this time and with available data does not support ALS as a likely diagnosis to explain the fasciculations, twitches, and cramping that you have compared to other possibilities.


If any of this information has been useful for you and helpful would you do me the favor of providing some written feedback and a STAR RATING.

And in addition, if there are no further questions or commentaries related to this thread of answers your CLOSING THE QUERY on your end ensures that the network will credit me for the transaction and archive it for future reference.

I wish you the very best and am sure you will get better with continued effort and perhaps, a little R-e-l-a-x-a-t-i-o-n!

Cheers.

This consult required 40 minutes of physician specific time to review, research, and document in final format for envoy.

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Brief Answer:
I think medications need to be assessed

Detailed Answer:
Thank you for the additional information. Diamox can cause cramping as one of its side effects and this is MUCH MORE COMMON than the prevalence of ALS...as you probably know....and so in Medicine as in most other things in life....we prefer to choose the more common and least "Zebra Like" disease to give our patients. And certainly medications in this case could be the cause of some of your symptoms.

The photos (looked at at in detail), unfortunately, don't help in the way of showing fasciculations since they are pictures and not cine shots or video. I don't think you can upload video to this network as far as I know. If neuro has not commented on tongue fasciculations then, that's a good sign that they're not present.

Once again may I ask a big favor that you provide some written feedback on how well you were served by our conversations? And also I'd be appreciative if you could CLOSE THE QUERY at this point which will alert the network that they can file the case and that I will be properly credited for the provided information. You can certainly reopen any query in the future and I'd be honored if you wished to specifically send your questions my way (DARIUSH SAGHAFI, MD). Don't forget that I am also available by webcam chat as well and in that forum I would likely be better able to see your fasciculatory activity and so forth....just a thought.

All the best to you.

This query required 18 minutes of physician specific time for review, research, and final draft documentation for envoy.

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