I am also posting a few of these websites. It seems like the lingo these days for Charcot Marie Tooth (CMT) has been interchangeable with Hereditary Neuropathy....They can be the same thing. Some myopathies are turning out to be neuropathies or neurogenic myopathies. The whole, entire area is in flux right now do to major discoveries with the genome.. Some of these diseases were at one time considered to be different entities and alas, are actually differing degrees and manifestations of the same disease.

I strongly encourge any one with an idiopathic or hereditary 'cause' to please check out these sites and do some research. It takes a while to understand it all, and I admit the letters and numbers of the genetic entities are confusing, but definitely worth taking a look at.

http://ajrccm.atsjournals.org/cgi/co...hort/160/1/368

http://www.ncbi.nlm.nih.gov/entrez/d....cgi?id=302800

You can click on the numbers and it will take you to the next entity. So you can access a lot of information very quickly.

Several sites indicate that 42% of Idiopathic cases are, indeed, hereditary.

Testing for hereditary causes is expensive. More and more loci are being identified every day. Having a negative result does not mean the disease is not hereditary, it simply means that the specific gene locus has not been found.

You can wait things out for a while in hopes that more symptoms emerge giving geneticists a better idea of which genes might be implicated or you can try now, if you can get your doc to order the test and your insurance to pay for it.

Athena Labs, has a program where they charge patients with no coverage at max 20% of the full cost.

If you have several family members, who have good insurance and are in no danger of losing a job or insurance if they test positive for a disease, I would encourage you to check things out.

Keep in mind, not all people can cope with the concept of hereditary disease and prefer to remain oblivious, until it hits them....and some even beyond the point where it hits them. Denial has some function for some folks.

I am quite sure that mine is hereditary. My doc feels it is hereditary, however, no one existing 'type' fully explains all my symptoms yet. I fully fit the criteria of several diseases. I do have family members showing some pretty odd symptoms at this point, so it is pretty likely hereditary. Whether or not they have found this locus or can find it is unknown.

I figure in a few years, more and more loci will be identified. I am unsure as to WHEN to undertake the actual genetic search.

The biggest caveat here is cardiac disease that comes with some of these neuropathies or myopathies or both in my case. A consult with a good cardiologist who is familiar with these neruomuscular diseases is a good idea...THAT is not easy to find. Some folks require ICD-pacemaker placement to avoid a totally preventable sudden death from a 'blip' of the neuro system. It is hard enough to find a neurologist familar with these diseases, let alone a cardiologist. We have some sudden cardiac deaths, early on. ICD-pacemaker placement runs roughly $50K. They don't do it on a whim. I have runs of nonsustaining ventricular tachycardia, that symptom is associated with some of these neuromuscular diseases. However, cardiologists are loathe to place these devices until one 'passes out.' I have yet to have my 'run' on the ambulance due to THAT reason. These cardiac occurances can happen only rarely and are very hard to catch on tape. I have some recorded, but apparently have not met the 'time limit' or duration of length that they want....however these duration criteria they set up are for folks without neruomuscular disease. It is really complex. I have biopsy proven neuropathy, biopsy proven myopathy (far from the stocking glove area--so not influenced by the usual neuropathic myopathy that occurs with any neuropathy) AND an abnormal cardiac stress test with hypotension AND recorded nonsustaining VTach. I have one quarter of my genealogy traced to the same province on almost all of the dozens of branches to the year 1470AD...and they stayed in the same province! I have found several diseaes linked to that group of folks.....I am still getting a pat on the head and a 'there, there'. I hate to say it, but you have to build a case for intervention to save your own life, if you are 'blessed' with one of these gene mutations. I have other lives to think of besides my own, and nothing is meaner than a 'mother bear' when protecting her cubs....so no, I am not releasing my jaws at this point, until I get answers from the docs.

Granted, it is cheaper for insurance, if I have a sudden cardiac arrest.

All these evals take a long, long time to get done...no doc wants to fight the system to get this done, and there are pitfalls to genetic testing and diagnosis. There are also benefits.

I suggest doing as good of a genealogy as you can. Some diseases predominate in certain ethnic groups, even down to the provinces and townships.

Thanks everyone for the links- I have had a muscle biopsy done and it did not show anything specific-I think it was fairly normal. I had genetic testing done for some of the muscular dystropophies but they came back normal. The EMG done all come back abnormal. I have had several of those. The frustrating part is that most of the genetic research was done on disorders that were autosomal recessive and I could have told them that they would not find anything there as I know it is x-linked and autosomal dominant.
The teaching hospitals that I went to were disappointing. I spent a lot of money and it seemed they did not listen to me at all. There Emg testing finds abnormal results but they seem to ignore most of ny symptoms. The doctor at Emory gave me some medicine to take and said it would cure me. It was anti-siezure medicine and my local neurologist had already tried it before and he knew this. When I went back I told him that it helped with cramps and the fasiciculations but my muscles were still stiff and sore which is my biggest problem. He said you don"t look stiff and seemed to be mad that his cure did not work. He said for me to go back to work that I could sell real estate or insurance. I said what should I do about the stiffness and soreness and he said get some exercise. If I could exercise I would not have been there to start with. As far as my work history I had worked the last 25 years as a contractor and have never been out of work before this happened.
My primary neurologist that is local is very good and is understanding and does not want me to work. I want to work but I don't want to hasten this disorder. My father worked until he could barely walk and would sit on a stool or lean against something until he could no longer get away with it and finally quit work. All family members that have had it have retired early in their fifties. Someone in a previous post mentioned denial and that is very true. My cousins who have it deny having it and one walked with a walker and the other has to use a cane. I am the only family member that has pursued a diagnosis. My neurologist now has decided that we will eventually find out as it progresses but this is very frustrating.

Add that doctor who ignored what you said, wasted your time and money, and was annoyed he didnt cure you on the first shot to the out basket. Hes a real peach.

Hi,

This is very interesting this MPFS. When you first got it did you have other symptoms first or has it always been just the fasics and the aching? Have you had other PN type symptoms develop since?

What is its course?

How does it vary from BFS (Benign Fasciculation Syndrome)?

My first symptoms were aching legs and legs getting stiff when seated, Hands that hurt when gripping something like a steering wheel and feet that hurt so bad I can hardly wear shoes. I have now progressed to where it hurts to walk- mostly legs , hips and pelvic area. I can actually walk better than I can stand in one spot. I think it has to do with being able to switch legs when walking. When I drive I have to switch hands back and forth as it is hard to hold on to the steering wheel for long. Almost any exercise or work and I can not get out of bed easily. I helped a friend with some wiring issues the other day as that is what I am trained to do and it actually felt great to be working but I did not get out of bed until one oclock the next day and I have been sore all week.

I have not been able to find much information on MPFS either but what I have found is that it is a hyperexcitable peripheral nerve disorder. I think it is kind of like benign fasiciculation syndrome except there is a more muscle pain.
MPFS does show up on an EMG test.

I don't think MPFS is supposed to do what is happening to me and that is why I think it is just part of my problem. I told the doctor I had fasiciculations and he tested me for that and found I did have them by performing the EMG and since I had pain he said I had MPFS. I paid $ 1600 just to have them tell me I had Fasiciculations when if they had been in the waiting room they could have seen them. It was kind of like having a headache and going to the doctor and him running test and saying yes you do have a headache. I don't mean to sound so bitter but you wait months to be seen at Emory and you hope to at least find what is causing the problem and hoping that there is a cure so you can go back to work and they do a ten minute eMG on one calf and say it is MPFS and it is not heriditary and I should not be having any stiffness and that it is not disabling. When I went back for my follow up and the doctor said that he gave me medicine to cure it and I told him I was still having the soreness and stiffness he got kind of huffy and said that was all they could do. It was like a one shot deal and if they did not get it on the first guess you are out of luck. I could understand it if they had run a battery of tests but all they did was an EMG on one calf muscle. I also went to the Medical Collge of GA. and had a muscle biopsy and EMG. They told me that it was a unspecified myopathy probably inherited. I pretty much knew that when I went. Both teaching Hospitals would give you one shot at an answer and if that did not pan out it was too bad they were done. They both know there is a problem but they are just going to take one guess at it.

My neurologist thinks it will become more evident later and my GP says that it could be a new genetic disorder that they have not classified yet.

Cyclelops you had asked about CMT and I think that has been ruled out because my ncv or nerve studies have been normal. It is my EMG that come up abnormal along with my symptoms. My local neurologist has run a lot of test and ruled out a lot of things but just hasn't nailed down a distinct disorder yet and that is why he has sent me out for the other consults. They have checked my heart and and my father who has this has to be medicated for afibrilation but so far I have missed this part.

TLSMITH

I PM'd you. CMT is not ruled out if EMG is normal. There is are now several axonal variants with normal nerve conduction studies and EMGs. As I said, the entire group of what was once believed to be just a few CMTs has exploded...not to say, your specific locus has been identified. Check your private message box...if you have one as a visitor, I don't know how that works.

Cycleops- I PM'd you back if I did it right-Thanks

Thanks for your response.

I was wondering how long ago it was that Emory were still using this MPFS term? If they are still using the MPFS term then possibly it is in current usage however there certainly is a dirth of information about it in the current medical literature. When literature is as old as Hudson's articles (1970's) one wonders whether another term or diagnosis has supplanted it.....or whether Hudson et al. are the only ones who have diligently pieced together the symptoms!!!!

My symptoms, - muscle aches, fasciculations (several hundred per day - hard to count!), extreme fatigue, cramps, burning skin pain and other odd sensations sure seem to fit the MPFS syndrome as outlined by Hudson. Oh well maybe I'll never know!

Megan

Your symptoms also fit hundreds of neuromuscular disease possibilities. I don't know when they will start offering intraepidermal skin fiber density biopsies or the less invasive procedure of doing it with lasers, in Australia. I am surprised that it is not offered in Australia.

Small fiber neuropathy, even the axonal varients of Charcot Marie Tooth disease, and some anterior horn cell diseases will not show on EMGs. Small fiber neuropathy, is not really a diagnosis, but a 'lead', to start unravelling the hundreds of possibilities that cause small fiber neuropathy.

Most SFN is caused by diabetes and probably undiagnosed impaired glucose tolerance. Ater that come the many autoimmune diseases, monoclonal gammopathies, and other rare diseases, such as porphyria, sarcoidosis, amyloidosis etc.

Then the 25% left over is called 'Idiopathic' which means an obvious reason did not pop up.

Out of those 25%, 42% are hereditary (HSMN, HSAN etc) also called Charcot Marie Tooth in some cases. Out of that 25%, 16% are said to have Celiac Disease, which, altho many neuros will rule it out by blood test, truly to have it ruled out the villi of the intestine need to be sampled, which is not done very often to diagnose the cause of SFN.

Small fiber neuropathy can manifest as sensory or autonomic neuropathy. I think, and I could be incorrect, but, I think if fasciculations are involved it is involving motor neurons. There are diseases which involve all three kinds of nerves, I have one. Myopathy is some disruption of motor nerves, as if motor units start to die due to loss of innervation (as in my case), those nerves are motor neurons.

If one is very persistent, after the small fiber is diagnosed by biopsy, one may be able to secure a muscle biopsy, but there usually has to be substantial reason to do it, as in TLSMITH's case, he has a definite hereditary pattern, that is why his diagnosis of benign fasciculation disorder, does not appear to fit. His condition does not appear to be benign, he has neuropathy and myopathy with a definite hereditary pattern. He likely has a hereditary neuropathy, at this point unspecified, which is what happens to a lot of us that fit his and my pattern. If the genotype is not readily identified, it would take getting all affected members in for testing and a motivated institution to try to find the gene locus. Most do not want to invest that energy and funding. I am running into that roadblock, which I find ironic, as they push genetic counseling these days, yet in cases like mine and TLs, we have clusters and nothing is moving to identify the locus. It is a matter of resource allocation.

I see the standpoint that, we can predict the course of disease via looking at other relatives. In most cases, all you can do, is prevent some things like joint deformity, and try to increase or preserve mobility, and treat pain and spasm with medication. Hereditary PN, as of yet, in most cases, has no treatment or cure....hence, it doesn't interest a lot of docs, as it is not gratifying to treat.

In my case, we have quite a few sudden cardiac deaths, and that makes me uncomfortable, as THEY have not been identified as individuals with this diease, altho the parent of 3 lost siblings was advised that there was 'some' like hereditary cause. I am the first to discover that we likey have a hereditary syndrome, however, we have not narrowed it to which one. I have children, and don't want any other family members dying of neurologically produced, preventable arrythmias, when ICD-pacemakers prevent it. I would like genetic testing to see if I fit the established parameters of any of the neuro hereditary diseases out there, but I have a hunch, my search will be similar to TLs.

Many of these diseases take many, many years to manifest in their full glory, and it is a frustrating wait. I am going to advise you to wait, as frustrating as it is, until the skin biopsy becomes available, or until other symptoms develop, before you bring up anything 'Benign'. Both you and TL seem too affected for anything to be 'Benign'. Also, it is best to see if you have a treatable form of PN, of which many if not most of the members of the forum have.

I hope that some neuro center in Australia, starts doing the nerve fiber biopsies. It is a shame that you can not get this simple procedure to confirm or rule out small fiber neuropathy.

Megan- I was diagnosed by Emory in 2006 so they are still using it at that time. I think that the muscular pain fasiciculation syndrome and the cramp fasiciculation syndrome are basicily the same thing except one is more cramps and the other is more muscle pain. They are muscle or nerve hyperexcitability disorders. But neuromytonia and isaacs syndrome are also hyperexcitability disorders. They also call it Quantal sqaulor and continous muscle activity syndrome. How they use the terms is pretty much up to them I guess.

You have all the symptoms I do except for burning skin pain- I don't have that. Do you get stiff? I get so stiff and then the next day I am sore. I get so sore I feel like i have been working out with weights. My hips and legs get so sore it hurts to walk if I do anything. I think that the constant muscle hyperexcitability just keeps the muscles active all the time. Anything extra and they are just overloaded. I have no problems at night in bed my legs feel fine. But when I get up they start hurting as soon as my feet touch the floor. You mentioned fatigue- I do almost nothing all day and I feel like I have just worked a 12 hour shift. So tired.