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.