My own BFS in a nutshell

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My own BFS in a nutshell

Postby JodiD on December 21st, 2005, 7:19 pm

In case BFS in a nutshell isn't enough for your reading pleasure, this is my own attempt to put into a nutshell everything I know, or think, about BFS (unless I forgot something, in which case I guess maybe I don't know it anyway :D ).

ALS :roll:
BFS aint it, so how about we stop wasting our time talking about it so much and talk about stuff that's actually relevant (doesn't apply to newcomers who may still need to get over that hurdle).

Voltage Gated Potassium Channel (VGKC)
BFS is presumed to be an autoimmune attack against the VGKC. When a motor nerve impulse reaches the nerve terminal, the calcium and sodium channels open the gates which allow the neurotransmitter acetylcholine to flow to the muscle. This causes the muscle to contract. Afterwards, it's the potassium channel's job to close the gates back up. If the potassium channel fails to do its job, the muscle fiber will stay active.

There are 2 different tests for VGKC antibodies. The most widely available is an "immunoprecipitation" assay. Unfortunately, it's not a very sensitive test and has a lot of false negative results. The other test, a "molecular-immunohistochemical" assay, is much more sensitive but not available to the vast majority. (Few people on aboutBFS.com seem to have had either test.)

There are several treatments for VGKC autoimmunity (reserved for those who are significantly affected):

1) Plasma exchange (strips antibodies out of blood) - works well, but relief is only temporary; it's a slow in-patient procedure.

2) IVIg (injection of certain antibodies into the bloodstream) - doesn't work very well on PNH; expensive.

3) Immunosuppressants (drugs that suppress the immune system so that it doesn't produce so many antibodies) - works well for some but not for others; body becomes vulnerable to infection because of the weakened immune system.

4) Anticonvulsant drugs (carbamazepine, phenytoin, and lamotrigine, which suppress the sodium channel, preventing the muscle from receiving as much acetylcholine) - relieves twitching in many; drugs may have adverse side effects; doesn't address the underlying problem.

Neuromyotonia (NMT)
BFS is considered by some experts to be a mild form of neuromyotonia (aka Isaacs' syndrome), so the umbrella term "peripheral nerve hyperexcitability" (PNH) is the preferred term for all conditions on the continuum.

The features of NMT can include muscle twitching, muscle cramping, muscle stiffness, pseudomyotonia (delayed muscle relaxation), pseudotetany (constant muscle contraction), sensory symptoms, CNS symptoms, muscle hypertrophy (enlargement), muscle wasting, autonomic symptoms, and symptoms triggered by exercise.

Note that one of the symptoms is weakness (and does not say perceived weakness). The explanation for the weakness is that muscles that are constantly active get tired, and it is the muscles that are the most active that become the weakest. (I think it goes without saying that this type of weakness is not permanent.)

Another symptom is pseudotetany, which is sometimes confused with spasticity. Spasticity is caused by a lack of signal from the brain. It's the CNS (brain) that sends a signal to inhibit muscle contractions. When there is no signal from the brain, the lower motor neurons have a hayday and tell the muscles to go ahead and contract all they want. Tetany is similar to spasticity in its manifestation, but different in its cause. Tetany happens in the peripheral nerve level, not in the brain or spinal cord. The difference between tetany and pseudotetany is that tetany is caused by a dysfunction of the sodium channel, whereas pseudotetany is caused by a dysfunction of the potassium channel.

Paraneoplastic conditions
Some cases of neuromyotonia (15% or so) are caused by a cancerous tumor (neoplasm) somewhere in the body. The term "paraneoplastic" is used to refer to conditions that are indirectly caused by a neoplasm. Usually the neoplasm is a thymoma (tumor of the thymus gland); occasionally it's lung cancer; rarely it's plasmacytoma (multiple myeloma except that it's single rather than multiple). Since BFS is considered to be a mild form of neuromyotonia, it stands to reason that some cases of BFS may be associated with a tumor, although the percentage is probably lower than it would be for full-blown neuromyotonia.

Here's the reason why tumors can cause autoimmune diseases. The tumor first develops, which then causes the immune system to launch an attack against the tumor. From the immune system's point of view, something in the tumor coincidentally appears identical to some other type of body tissue, so those tissues end up being attacked as well.

Interestingly, people with this type of autoimmune attack tend to have a better prognosis than those with the same type of tumor but without the autoimmune attack. That's because those with the autoimmune attack have more robust immune systems which are fighting off the tumor. (Apparently those w/o the autoimmune attack have weaker immune systems and are more likely to succomb to the cancer.)

The term "benign" :?
I consider the term "benign" to be misleading. While BFS IS benign in that it isn't fatal, that doesn't mean that it isn't a real illness with a real cause. It is real, and it does have a cause. It can be somewhat disabling, and it can also be associated to things that are serious. Just ruling out ALS isn't enough. Just because you don't have ALS doesn't mean you shouldn't get diagnosed, and possibly treated, for what it is that you do have.

According to Dr. Hart, "...all patients presenting with acquired PNH should have a serum autoantibody screen that includes VGKC and AChR antibodies, plus glucose and thyroid function tests to help exclude other autoimmune diseases. Secondly, because PNH can be paraneoplastic, it is important to search for an underlying thymoma or lung cancer."
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Postby basso on December 22nd, 2005, 12:01 am

Very impressive Jodi, but you really must get out more.

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Postby dave y on December 22nd, 2005, 3:37 am

Interesting Jodi,

I would like to know however why the tumor theory is not supported by any other studies than the Hart study. I believe it would have shown up in the Mayo study, which surveyed all health problems, I believe, without going back to it.

I really think if the numbers were that high on tumors, it would have been discovered in other studies.
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Postby SuziQ on December 22nd, 2005, 8:18 am

Wow-
That's awesome Jodi. You should be writing for a medical journal.

I'm wondering about the 15% figure for cancer also. That seems like a high percentage to me, considering how rarely the paraneoplastic syndrome occurs?

I don't think my doctors worked me up for cancer technically, though I was ct scanned and mri'ed out the wazoo, so I'm sure they would have found it.

I had my first mammogram recently. It wasn't as bad as people say (and I'd been procrastinating because I'd been told how much it hurts when your "girls" get squished between the machine.) I've had ex-boyfriends who have treated them worse, lol.
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Postby wjjw on December 22nd, 2005, 8:42 am

Some cases of neuromyotonia (15% or so) are caused by a cancerous tumor (neoplasm) somewhere in the body. The term "paraneoplastic" is used to refer to conditions that are indirectly caused by a neoplasm. Usually the neoplasm is a thymoma (tumor of the thymus gland); occasionally it's lung cancer; rarely it's plasmacytoma (multiple myeloma except that it's single rather than multiple). Since BFS is considered to be a mild form of neuromyotonia, it stands to reason that some cases of BFS may be associated with a tumor, although the percentage is probably lower than it would be for full-blown neuromyotonia.

Anyone reading this should not mistakenly jump to conclusions about BFS symptoms being indicative of paraneoplastic syndromes. Paraneoplastic syndromes are associated with many different symptoms including fever (common), muscle weakness, acute and uncontrollable eye movements, painful nodules, inflammatory arthritis and bone pain, edema, severe skin disorders, GI symptoms, and many other severe and obvious symptoms. Not just muscle twitching, aching or cramping. Some of these involved topics are not easy to discuss "in a nutshell."
A knowledge of the existence of something we cannot penetrate, of the manifestations of the profoundest reason and the most radiant beauty, which are only accessible to our reason in their most elementary forms--Albert Einstein
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Postby Taylor on December 22nd, 2005, 10:46 am

I read the Hart study several times and I question several things. First I don't recall ever seeing anyone on this website mention that they had developed cancer (lung cancer or thymoma). It would seem from the high percentage listed in Hart's study that there should be at least a few people on this board that have developed something.

The 7 year Mayo Clinic study does not mention anything about paraneoplastic conditions either. In fact if I remember correctly a large majority had an improvement in symptoms over time.

The last neuro that I saw who is a specialist in neuromuscular diseases at a major teaching medical center told me that 70% of benign fasiculation cases begin after a viral infection. He ran a VGKC test on me but told me "I don't think this applies to you but we have to cover all bases."

My neuro also told me that benign fasiculations can last a long time then suddenly stop and start again at a later date. Does this support an autoimmune attack against the body? For instance look at rheumatoid arthritis which is an autoimmune attack. Once the symptoms start do they suddenly stop for perhaps years like bfs? Hart mentions in his study that none of the patients experienced any type of remission during the study. I have read posts on here from individuals who say their twitching has decreased tremendously or stopped completely after a period of time. This also supports my neuro's statement and conflicts with Hart's study.

I have read a lot of the information that you have read and I am not trying to disagree but trying to keep a positive outlook about things.

I am thankful that Hart is studying this condition but some of the information conflicts with statements from my neuro and individuals on this board.

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Postby Pasics Pete on December 22nd, 2005, 11:46 am

Taylor wrote:My neuro also told me that benign fasiculations can last a long time then suddenly stop and start again at a later date. Does this support an autoimmune attack against the body? For instance look at rheumatoid arthritis which is an autoimmune attack. Once the symptoms start do they suddenly stop for perhaps years like bfs?



This is not unheard of. For example, I suffer from an arthritic disease known as Ankylosing Spondylitis. For the most part it stays in remission (without the use of any medications) only to show its face every few months or years. Also, take a look at a virus like herpes simplex. Most of the time it stays hidden in nerve cells but will occasionally (or more often) make its presence visibly known. Once infected with it, you're infected for life although the symptoms may not always be noticeable.
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Postby JodiD on December 22nd, 2005, 12:04 pm

dave y wrote:I would like to know however why the tumor theory is not supported by any other studies than the Hart study.


I've seen the tumor theory in quite a few places, not just the Hart study. Here are a couple of references:

http://www.pnseuronet.org/professionals/nmt.htm
"In about 25% of cases, PNH is paraneoplastic and can predate the detection of a tumour by up to 4 years."

http://neuropathymd.org/topical/28/Para ... athies.pdf
"PNH is associated with autoantibodies to voltage-gated potassium channels (VGKC) that increase the release of quanta of acetylcholine and prolong the action potential. The tumor most frequently involved is thymoma, and these patients may also have MG. Patients with thymoma, with or without MG, may harbor antibodies to both, VGKC and acetylcholine receptors. Other tumors include, Hodgkin's lymphoma, bronchial carcinoma, SCLC, and plasmacytoma. Symptoms improve with diphenylhydantoin, carbamazepine, and plasma exchange."

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Postby stevepaul on December 22nd, 2005, 6:13 pm

Surely people are not suggesting that the Mayo clinic has only BFS patients on it's records who have no other disorders that can be associated with it. If Hart's clinic has a mix of both then so does the Mayo's

What the Mayo did was a follow up. They contacted patients from their records who had been previously diagnosed with BFS and nothing else, to see if they had developed any other complaints. After all it would be pointless to contact those who might have BFS and thymoma or lung cancer or MG. If they could identify 137 patients from their records, then what where they identified from, presumably from those BFS patients who had associations with other disorders.

From another paper of Harts it says that spontaneous remissions can be seen in autoimmune PNH.

Does any of this sound familiar notice, the word Mayo

Department of Neurology, Mayo Clinic and Mayo Foundation, 200 First Street S.W., Rochester, Minnesota 55905, USA.

Neuromuscular hyperexcitability is a characteristic of Isaacs' syndrome. Autoantibodies specific for voltage-gated potassium channels (VGKC) or ganglionic nicotinic acetylcholine receptors (AChR) are markers of this disorder. To determine the frequency of these ion channel antibodies and of related neuron- and muscle-specific antibodies in patients with acquired neuromuscular hyperexcitability, we tested serum specimens from 77 affected patients (35 neuromyotonia, 32 cramp-fasciculation syndrome, 5 rippling muscle syndrome, and 5 focal neuromuscular hyperexcitability) and 85 control subjects. Among study patients, 14% had coexisting myasthenia gravis, and 16% had an associated neoplasm. We found that 35% had VGKC antibodies, 12% ganglionic AChR antibodies, 16% muscle AChR antibodies, and 10% striational antibodies. Overall, 55% had serological evidence of neurological autoimmunity compared to 2% of control subjects. Patients with neuromyotonia were more frequently seropositive (71%) than patients with cramp-fasciculation syndrome (31%). We conclude that acquired neuromuscular hyperexcitability consists of a continuum of clinical disorders with a common autoimmune pathogenesis.
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Postby JodiD on December 22nd, 2005, 10:49 pm

I just want to add that maybe many of your doctors actually are looking for signs of cancer but not telling you about it. I think doctors are gun shy about mentioning the "C" word because so many people freak out about it.

In my case, my neuro ordered a test for Bence Jones proteins, but he didn't say anything about what it was for. From my research I knew that he was looking for multiple myeloma, but I didn't let on that I knew. (Later, the rhumatologist was looking over my records and asked me if I knew what the Bence Jones test was for. I said that I did, and he seemed a little surprised that I knew so much.) At a later point the neuro ordered a chest x-ray. I knew about thymomas and figured that's what he was looking for, but when I asked what it was for, he just said something about accumulations in the lungs and sort of brushed it off. I let it drop.

I'm glad that my doctors are aware of the paraneoplastic possibilities and seem to be on top of it. :D On the other hand, I have yet to have a VGKC antibody test. :evil:

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Postby basso on December 23rd, 2005, 9:18 am

Jodi:

You know far too much for your own good. :lol: There is talk being bandied about by some of your cyber-friends to send you a gigolo for xmas. Something to take your mind off of all this tremendous knowledge. :wink:

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Postby SuziQ on December 23rd, 2005, 10:00 am

Just to get some perspective on the cancer thing.

Cancer in a young person is never a good thing. It is always aggressive, always progressive, and will generally show itself very early on.

Why is this good news? Because most of the folks here have been twitching for quite some time. If you had an underlying malignancy, it would have claimed you by now, or you would be having other symptoms.

Also, like Jodi said, the doctors do look for these things, they just don't necessarily tell us.

Basso-I'll go in with you on that gigolo.
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Postby homer8 on December 23rd, 2005, 5:23 pm

More perspective on the cancer thing.

I am unaware of anyone on this board or in Brain Talk Commmunities that has been diagnosed with cancer. I have been following both for over 2 years.

I also recall reading in one of the studies don on PNH that the paraneoplastic sympoms the predate a tumour by 4 years are usually small cell lung cancer.

If you smoke you should probably get a chest xray.

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