Cycleops- Just one point I am not sure about- My EMG testing is abnormal- I think with benign fasiciculation syndrome the EMG would be normal. Is that right? Megan, have you had a EMG? I have had Three EMG's and they all are abnormal. I wish I had Cycleops training and knowledge to figure out why. I know they say increased insertional activity and a lot of other terms that I don't understand. They just say there is some kind of myopathic like disorder going on. I have never had the skin density biopsy done either. As far as I know my nerve conduction test have been normal.

Cycleops is right about the doctors-There not going to get real excited about these disorders. They are discovering new gene defects all the time so maybe eventually they will have an easier way to diagnose us. My local neurologist has taken a great interest in my case but there is just so much he can do. He has sent me to the big MD clinics but they seem less than interested. I think some of it has to do with research money and if you fit certain criteria.

Cycleops- about the genetic testing- When I was tested they would not test for everything they just tested for what the doctors thought you might have. I think I was tested for DMD1 and 2, Some form of LGMD and a couple of others. I thought they would test for everything known but that was not the case. I could have a known genetic disorder and they just did not test for it. I just went back and counted the test and there was six total. I think to test for everything would be way to expensive. So the genetic testing is a little bit of a crapshoot or it was for me. They tested me for six disorders and there are hundreds of known genetic disorders. And of the ones that I was tested for two or three were recessive disorders that I knew I did not have.

TL,

Hereditary Myopathies, I believe I sent you some sites to look at, can be typed by where in the sarcomere the abnormality exists, and what kind of abnormal protein exists. Mayo is doing work on zaspopathies which are Z line abnormalities. There are A bands and I bands and H zones. There are different proteins, dystrophin, titin, myosin, zasp protein etc. Those can be checked for abnormalities and the different genes checked for. There are many primary myopathies, some of them quite obscure, but many linked to 'old world' diseases, that docs here, just do not follow as they have had no experience with them. And, many of these diseases have similar courses.

The skin biopsies are the intraepidermal nerve fiber density biopsies which are small punch biopsies taken at 4 sites, ankle, calf near the back of the knee, inner thigh and fore arm near the elbow. They can be taken other places as well, but these are most common. I would encourage you to get these done to see if your myopathy is accompanied by small fiber neuropathy and if your muscle biopsy was done in a highly neuropathic region. Myopthies can be primary, or can be neruogenic, which gives you a lead as to which genetic tests to pursue, instead of that potshot.

Your family has such a clearly deliniated pattern that I am amazed that some one does not want to study it. Again, if you can link it to an old world cluster you can stir up some interest.

I do not know how they can diagnose a primary myopathy with nonspecific changes. That is not congruent. I hate to be critical but it seems too hasty.

I have a non-specific myopathy, (expected) no abnormal protein found, however, I still know I have angulated fibers which are common with neuropathy. I know muscles are innervated by motor neurons. So whatever I have encompasses all 3 types of nerve tissue and has produced a myopathy, far, far from stocking glove areas (unexpected and unsual-more anterior horn like). Technically in SFN it should be normal that far from affected areas. Muscle biopsy would be grossly abnormal and non-specific, in the stocking glove distribution. So I have a neurogenic myopathy, not a primary myopathy.....they have told you that you have a primary myopathy, and I wonder on what basis they came up with that premise. It appears you have abnormal neuro testing. The punch biopsy should be done and you should know what is wrong with that muscle tissue. Which protein is abnormal? What type of fibers do you have? What pattern of motor neuron loss? You are sophisticated enough to comprehend this stuff, and to ask the questions you deserve answers to. I will PM you more information regarding muscle biopsies. If your muscle biopsy was done in an area affected by neuropathy, you would get a highly disordered muscle biopsy, incapable of being typed and the disease unable to be identified...a non-specific biopsy. The site of muscle biopsies in people with neuropathy must be discussed and a decision made as to take it from muscle that is not totally damaged by neuropathy.

What I have not yet conquered it how to highlight web addresses, on this Mac....hmmm....perhaps my cognitive abilities are limited....give me a few days, I may yet figure this out. Please bear with my not being able to highlight the sites and having to type them out.

Again I will encourage you to talk to any 'old timers' and dont ask questions about disease let them ramble on and you may find out the most interesting things regarding your past. If you can get a definite ethnicity and even more specific provincial area, your disease has already been identified there....where your ancestors may have lived for generations.

It may not change your treatment or outcome, but I know your concerns for future generations are the same as mine. Let me know if I can be of assistance.

Oh, one more thing for general consumption. Muscle biopsies are surgical procedures far more complicted then the skin biopsies. They won't be done unless there is a strong suspicion of a hereditary myopathy or primary myopathy. It is not helpful in most cases of PN. Most folks with PN will show some myopathy in the regions affected by PN, which for most folks is the stocking glove region.

Myopathies are a whole new can of worms...as is finding a myopathy in a non-neuropathic region in some one with neuropathy.

The most known myopathy is Duchenne's Muscular Dystrophy, another one is Becker's Muscular Dystrophy. These are the more common ones, but there are many uncommon ones. These are neuromuscular diseases.

I will say that some neuropathies are associated with myopathies in some hereditary syndromes, and for example, in the Charcot Marie Tooth category or the HSMN categories, can be helpful at isolating the gene. These, too, are neuromuscular diseaes.

They can't potshot gene loci for any one with idiopathic PN. It is not unlike finding a needle in a hay BARN.

The thing that comes to mind when folks have fasciculations is ALS, and yes, fasciculations are associated with ALS, however, most people with fasciculations DO NOT have ALS, rather have benign fascics or can have fascics that come with PN, which is also common. Fasics can even happen in perfectly healthy folks after increased activity.

TL

One more thing, that biopsy should have stated whether rimmed vacuoles were found, inclusion bodies, and mitochondrial abnormalities as well....there seems to be a lot about your muscle biopsy that they did not tell you.

If it was done in your calf muscle, your gastroc or anterior tib, and you have problems with walking and DO have neuropathy there, all that could possibly be found, is non-specific myopathy. They may have messed up....neuropathy is established in the area of the biopsy, can easily be severe enough to produce non-specific myopathy. You could actually have a neurogenic myopathy.

Another entity to just glance thru and look at is Myotonic Dystrophy type II.

The biopsy was taken in my left quadraceps muscle. It did not show any myopathic process. I think it showed one central nuclei. The EMG's show something abnormal. I had a general diagnosis of unspecified myopathy while they were doing all the test. After the Biopsy results they changed to unspecified neuromuscular disorder probably familial. After Emory it changed to muscular pain fasiciculation syndrome. But my neurologist knows that the MPFS cannot be the cause of all my symptoms. He has never mentioned PN and I don't think I have the classic PN with the painful nerve myelin sheath problem but rather a hyperexcitable peripheral nerve disorder. Whether this is the cause of my problems or my problems is causing it I don't know.

Oh yeah Cyclelops I forgot -I have been tested for Myotonic Dystrophy 2 on the DNA test and was not positive. It really fit my symptoms also.

TL

I think we are sitting in a similar if not the same boat, up a creek without a paddle right now, except that MPFS diagnosis is off base for you....hereditary neuropathy seems the likely culprit.

I had myopathy in my bicep. SFN by biospy, and abnormal autonomic tests (some of yours could be abnormal too, doesn't sound like a autonomic battery was done). I can honestly say for the amount and degree of SFN throughout my body according to tests, I have had little of the typical burning, but stuff everywhere is quite numb, and or deep aching painful. The cramping results in spasms, I am hoping orthotics will help with that.

It is a very hard situation to be in, the disease is both painful and disabling, and options are limited, true, but, comfort can be taken in the prospect that your physician agrees that the diagnosis of MPFS is off base, that future genetic research may reveal the culprit at least in time for our kids, and that hopefully, there will be some kinds of drugs available to assist our 'issues'. I use oral baclofen, are you using that or a pump? I also use diazepam, both drugs need to be increased for me, as they are not up to snuff. I also need better pain management. Sleep is almost impossible. I don't know if you are able to get orthotics to assist with function? There is a lot of stuff out there that can help to some extent with maintaining independence, which is a huge issue, I don't need to tell you that. I can just say I understand.

There is a CMT forum that is free, and a hereditary neuropathy forum, however, it appears that to post you must join, and there is a fee. You can read the posts on both for free....however, a fair number of posts refer to early onset. Adult onset neuropathy gets less attention.

Also females in your line may be affected, not just carriers. Most hereditary neuropathy has a huge intrafamilial variance of onset and symptom severity.

I am on oral balcofen 20 mg. three times a day, Diazapam three times a day and pain meds as needed. I cannot take the pain meds as they make me itch so I don't take them much. I also take the arthritis strength BC powders as they are the only thing that gives me much pain relief. I take them until I start passing blood then I have to stop awhile. My doctor wants to increase my meds but I am holding off for awhile.
I also have to take sleep medication as I used to go days without sleep. I have a hard time going to sleep but once I go to sleep I sleep like i am exhausted- a lot of times I can't get up and sleep until 12 or 1 oclock. When I first lay down I can still feel my legs moving under the skin. I don't have RLS or anything I just feel the nerves or muscles writhing under the skin. After a while that quits and then I hate to have to move them again as it starts up again.
The hardest thing about this stuff is trying to explain it to people. How do you answer questions like what is wrong with you? Why are you limping? Or all the advice you get like eat bananas or drink more water. I have people say why don't you get out and get more exercise or I have that all the time and it will go away. I guess you have to have some of this stuff to understand it.

Hi TLSMITH,

I had the EMG about six weeks after the widespread burning/buzzing skin sensations started, but about one month BEFORE the fasiculations started. I do wonder now whether they would show up as they are constant.

I get terribly stiff - it's ridiculous. Way, way out of proportion to the amount of effort expended. Just sitting down for a few minutes then getting up I stiffen up and I am not in my 80's, only just in my '50's. My mother is better than me most of the time and she is 86.

TL,

I respond to questions from people, by saying I have a neuromuscular disease, period. If they indicate they want more information, I give them a cursory explanation that it involves degeneration of the nerves and muscles, that there isn't a cure, and that it feels like I perceive MS would feel, and that in fact, it is not dis-similar to MS but in MS the myelin covering of the nerves degenerates and in my disease the actual nerve cell degenerates. Most folks comprehend MS....and small fiber neuropathy can be similar in symptoms, so that they 'get' it.

If they want more info, I explain the kind of neuropathy I have, that it affects sensory, motor and autonomic nerves and that I have to manage a lot of process our bodies do automatically.

On gait disturbances, I just say, my feet can not feel the pavement....I feel like I am walking on a mattress. My issue is in general, I LOOK really good, and if I am sick I hide out, so most folks only see me feeling half way decent....I have a spouse who does all the things that a lot of folks on here have to do for themselves. I have my 'she cave' and my husband knows when to leave me in it, undisturbed.

I do have a large back brace, which I hope the orthotist can give me something more functional...if I wear that, folks ask me how I hurt my back...LOL. It chokes me and I can't sit with it on, so needless to say, it gets little use these days....I will be getting some kind of ankle-foot orthotics, and i wear custom plastic thumb splints for day use and these honking big plastic custom hand, wrist splints for night use....I feel like the Michelin man.

People without chronic degenerative diseases have no comprehension that holistic cures are generally not the answer, nor is exercise, and I am a former recreational competitive athlete of addictive proportions. Now I know why I felt I could not stop. It generated a lot of endogenous opoids, and now, I cant generate that anymore, and of course, I am in a lot of pain just from the loss of the endogenous opiods.

I am not against holistic medicine and feel that some things such as massage therapy hold a great deal of benefit. It is expensive however and insurance does not pay. I think massage therapy is great. I can't soak in a hot tub, as I overheat, but I do try to swim and on good days, i do try to bike..I don't know why but biking seems easier than walking....only thing is, I do get those dorsiflexor spasms. I am sure yoga or tai chi would benefit me, but I will admit to some embarassment to going to a class, and tipping over and having to explain or excuse my 'issue'.

Some larger doses of vitamins may stave off deterioration, but, in your case I have no idea what I would recommend. Some folks on here, are way more knowledgeable then I and I would hope they have some input.

I would think you already tried all that. As for the banana crowd, I would tell them if something worked, some enterprising physician would have bottled it by now and sold it to become the world's newest billionaire. I think there should be more research done on this, however, that won't likely produce any breakthru's soon for folks with advanced neuromuscular disease. I assume they keep an eye on your magnesium.

I find most folks when they ask me how I am doing, really don't care....they are being polite...so I say, 'great'....Usually, I have some obvious orthotic on, and ask if they want to see my newest 'support system'.

My real friends, ones who care, seem to understand....one friend of mine gets so upset, I hate to bring it up...we used to bike together and she can't handle this....I tell her I am fine, because I don't want to upset her. She gets all mushy and tearful and I feel even worse, so there is no balance, LOL....

I don't mention it is probably hereditary, as I feel I have to protect my kids privacy. I don't want anyone making judgments about my kids futures based on mine.

I have fascics, but nothing like yours. I have RLS, which has abated lately, which I think is a bad thing, as it seems when you have it your whole life and it suddenly stops, some nerve pathway dumped on you...It seems like neither drug is stopping the fascics for you, and that concerns me. Does morphine make you itch as bad as codeine? I imagine they have tried the lyrica and neurontin stuff. Ambien can be used in larger doses than most docs prescribe, and I would speak with your neuro. They can go with these higher doses. However, with any neuromuscular disease, night time breathing should be considered, and if you have not had a polysomnogram, I suggest it, as you may be having night time oxygen desaturation. You could potentially benefit from CPAP or BIPAP.

How do you react to anticholinergics such as Elavil? I would assume that the anticholinergics cause more problems.....if so, then a dopamine agonist is much more worth a try. Fascics seem to defy treatment, so the drug to induce sleep has to override the sensation of the fascics. I imagine your doc has tried all the obvious stuff, and this is redundant for me to go over this. CMT has a 'toxic' drug list. I have issues with way more drugs than they have on there....most folks with neuromuscluar disease have many drug intolerances.

Baclofen is best administered via pump. tolerance to oral Baclofen develops quickly, and perhaps you could inquire about a pump. Pumps have pros and cons...weigh them.

A fascic is not the same mechanism of RLS, but, I am wondering if trying a dopamine agonist such as Mirapex, isn't worth a shot....you can start with a small night time dose and see if it works....nothing ventured nothing gained. It might not work or even cause you more misery, I don't know.

Most neuro drugs out there work on the few neurotransmitters we know of....dopamine, acetylcholine, serotonin to name a few....mind going blank--sorry. Most of them are some 'take' on compounds that work on these neurotransmitters.

My fascics are in my quads, hamstrings and gluteals, for the most part....I have had a few in other places, they occur daily, but not anywhere near the severity of yours.

If you are having foot drop, I would definitely see an orthotist, as night splints and walking ankle-foot orthotics may help your gait. Keeping moving is important, as the body is made to function upright and active....at least to a minimal degree. Gravity has a function.

You are getting hit with this at an age when you expected to enjoy the benefits of having some freedom from caring for young kids, your biggest success at work, and increasing time for self development. It takes a huge attitude change....and I am not there yet. My plans are requiring adjustment and there is the constant internal struggle on how much do I push myself, how much of this is emotional, how much is physical, and it is a roller coaster of pushing too hard, and not pushing myself hard enough, getting angry with folks who help me, then complaining they did not anticipate my needs enough, and then if they watch me struggle to do stuff myself, just as I asked them to do, I get upset that they let me struggle....or if they offer me assistance, I mutter, "I can do it myself'...and I often do try stuff myself and produce a mess, and walk away, peeved, frustrated and depressed and too tired to clean up the mess I made. I intersperse this with enough humor and wisdom and kindness so that my family doesn't boot me to the dog house.

....I don't feel good about this and my family needs support and understanding from others as I am not easy to live with many days.

I am up all night and keep a working spouse up all night....I don't mean to, but if i wake and have to grovel for pills, it wakes him. I have also had to untangle myself from spasms, sleep upright from esophageal problems, blah, blah and more blah.....I wonder at times if I should just get a night job and forget sleeping. I can not initiate sleep, at all.

Which brings up the thought of a beta blocker for you?? I don't know if atenolol would be an option? It can turn off the sympathetic nervous system pretty well....brings down the BP as well.

Your case is complex. No doubt. I am concerned about your loss of ambulatory function....abnormal EMG....and quadriceps myopathy....none of that sounds, 'Benign'. Benign implies fairly normal functioning, with no serious abnormalities.