Anacrusis, forgive me if AT FIRST this doesn't SEEM like I'm answering your original post.

My first symptom was not being able to whistle. I told my dentist and my GP. They thought it was TMJ. My mouth felt "funny" -- sort of numb at times -- sort of "tingly" at other times. I did a lot of research on the internet. I could never find anything that related to MG. When I was FINALLY referred to a neuro (after about 2 years), he didn't think my symptoms sounded at all like MG -- he suspected a brain tumor or stroke -- but, he ran the MG panel anyway. It turns out that I was POSITIVE to blocking, binding, AND modulating antibodies!!

So, in relating this TO your original post......I think that BECAUSE MG is so rare, there are just things about this disorder that are still unknown. I have SINCE noticed that when my eyes are "wonky", the muscles DO feel numbish -- and when my legs and arms are misbehaving, they, too, feel like the nerves aren't "connected" (if this makes sense). So, just make note of your symptoms. And don't be surprised if a neuro hasn't yet heard of them. I suspect that mine (both of them) have learned a few things from me. (They are good guys!)

Oh, I have the "snarl", too -- a Halloween mask without the expense.

Another thought. My sister went to one of the nations "leading experts" on MG and told her that her "snarl" and sagging face on one side had nothing to do with MG. He told her that even though she had positive modulating antibodies she did not have MG because her single fiber test was not conclusive. Even though in his book he states that a Neg single fiber test does not mean you don't have MG. So this leading expert says one thing and prints another.
Mike

Anacrusis, I feel the need to do a little fact checking here.

MG affects any of the 640 skeletal muscles. It is considered a "head and down" disease because it often affects the head/neck/bulbar muscles first (usually). Guillain-Barre is considered a legs and up syndrome, for example.

MG can be asymmetrical or symmetrical. The right side of my face, for example, tends to droop first or more. When my MG gets worse, my entire face droops. Yeah, even my nose. Not attractive pictures. But it's good to document by taking photos when this does happen to you.

When any muscles get weaker, they can feel like they're numb. Like my legs after walking in a store, which I can't do. Think of muscle strength on a spectrum from strong to paralyzed. Can someone with paralyzed legs feel them? No. When your muscles don't get enough acetylcholine and they can't move well or at all, they can feel numb. Does that make sense? So while "sensation" is not a primary symptom of MG, it is a secondary one. So is pain. When muscles get too weak, like when marathon runners go past the "safety zone," their muscles can cramp up and be painful too; just like in MG.

Since a lot of people with autoimmune diseases can also have Antiphospholipid Antibody Syndrome and be prone to a clot and, therefore, a TIA or stroke, if you have one-sided weakness that persists in spite of Mestinon or other treatment, get to an ER right away. It's always best to be checked out if you don't think it's MG making your muscles weaker.

The Congenital Myasthenia Syndromes are a collection of a variety of genetic syndromes - caused by genetic mutations - and have basically 3 subtypes (generalizing to make a point). In one, people don't have any acetylcholine. In others, like sodium channel ones, they have too much. In still others, like DOK 7, they don't have enough.

So Mestinon will work for those who don't have enough acetylcholine. 3,4 DAP is another drug that is sometimes used.

Mike, I don't recall if they actually did the blood work to determine if you had a CMS or not. The antibody tests you had done show you have myasthenia gravis of autoimmune origin. If they didn't find a genetic mutation, then it is not a CMS that you have. They usually have to do specialized blood tests (at Mayo Rochester or UC Davis) plus a specialized muscle biopsy (which is dangerous due to where it's done and how much tissue is taken). You could say that you have genetic myasthenia gravis, meaning that a particular gene in your family is dominant that predisposes you and others to have MG. But it is NOT CMS. It's not the same thing.

And while these diseases can be genetic, it doesn't mean that if you have a particular HLA typing of a certain disease that you will get that disease. And you can not have an HLA for a disease and can still get a disease due to things like toxins mutating your DNA/RNA!

Whomever the "expert" was that told your sister, Mike, that she can't have MG with only a modulating antibody and a negative SFEMG is completely WRONG. Oh, no, how dare I question a doctor? There are many subsets of MG. I have modulating only AB's, borderline SFEMG, highly positive Tensilon test, beyond positive response to Mestinon, diagnosis by both a neuro-ophthalmologist and MG expert, breathing tests indicative of a neuromuscular disease, have had an MG crisis and even more exacerbations. So what your sister was told is a load of bull, IMO.

They're all covering their legal behinds.

I hope that helps to clarify a few things. No, I'm not a doctor. Wouldn't it be great if all doctors actually did their jobs well? Doctoring is not about absolute facts and diseases don't follow algorithms.

Annie

He is supposed to be an expert and he told her that even though she has symptoms and antibodies, she still doesn't have MG??

I wonder what it would take to get a positive diagnosis from him?

I will go ahead and spill the beans on him in case some of you are considering seeing him. It was Dr. Howard at UNC. He is rated as one of the best?????
Mike

Thanks for sharing. We need to stick together because we are all we have.

Dr Howard is considered one of the best but i think when dedaling with very complicated illness like this the doctor patient relationship is very important that therre is not only lack of arrogance (or at least less arrogance) but there has to be a strong well developed trust both ways, which is why i choose to travel 500 miles to see my neuro, not that even he himself says there are equally competent doctors closer.

Annie juat a side note i had guillain barre was paralyzed from neck down for 4+ months and although i couldnt move a thing, i felt everything, i would cramp up every 15 minutes and in fact was extremely hypersensitive to touch, it was excruciating.

Thanks Annie for your masterpiece in medical writing – Doctor or no doctor -much appreciated.

PS Now I know that my foot (dorsiflexor?) might just have been one of those 640 muscles when it fatigued completely just tapping a few beats to my favorite song! (For goodness´s sake - whatever will it be next time round?!!!)

I usually worry myself about going off topic. However – at least in my life it´s the minute that someone gives the little extra information I didn´t ask for or that something has gone off completely on a tangent that I find I get the revelation that I actually needed in the first place!

Also the post is there for all otherwise we´d be PM´ing each other instead. If an answer does not help me then it might help someone else - So much appreciated.

Yes I do have one more question for you!

Do the others in your family who are affected also have high antibodies like you do?
We know that doesn´t correlate necessarily with high severity in MG but does theirs follow a similar pattern to yours?

And thanks

Sometimes patients want to be reassured and told that there is nothing they should be concerned about.

Sometimes the diagnosis is not straightforward, and the expectations of the patient influences the physician's decisions (physicians are people after all, and so are patients).

I have seen two patients in my clinic recently. Both with fairly similar complaints which could be anything from a minor temporary problem to the first signs of a more serious condition.
One wanted every possible test to be done and consulted numerous physicians (getting very conflicting information), and the other was very happy to know that I have found nothing wrong and hardly agreed to even come for a follow-up visit.

I know that I myself, when I was referred to an MG expert, wanted him to tell me that this couldn't be MG and a few days of vacation is all which is required.
And this is exactly what he said. I had vague symptoms (at that time), a normal neurological examination and a history of similar symptoms years before, which turned out to be "nothing". He also suggested that he would do an EMG or that I could try taking mestinon, but I just asked him to write a letter to my endocrinologist telling him that this is not MG. And he gladly did that.

What I am trying to say is that no doubt that some physicians forgot why they decided to be physicians (or maybe chose this profession for the wrong reasons) but there are many who didn't.

I don't know Dr. Howard, so can't say anything specifically about him, but you don't know what kind of interaction he had with your sister. MG is a fluctuative illness, which improves with rest. Possibly he saw her at a relatively good time. Some people try to let their neurologist see them at their worst and others do the exact opposite.

I don't know how severe your sister's symptoms are or how much they interfere with her life. If they don't too much maybe she is doing the right thing. I had mild MG symptoms 20 years ago, and they disappeared without treatment for 15 years.

It is hard to know what my life would have been like, if I was given steroids then. Possibly it would have led to severe deterioration in my condition (like it did now).

When I was a young fellow and very eager to treat a patient I saw in my clinic, the head of my department said to me- It takes an excellent physician to know when and how to treat a patient, it takes an outstanding physician to know when not to give treatment.
Most physicians tend to put more emphasis on the potential benefits than on possible risks. Very few truly weigh both and are honest enough with themselves to admit that they have very little to base their decision on.

I am very fortunate that after quite a few years of having excellent physicians taking care of me, I now have an outstanding one.