Ptosis? or something else?
 

I´ve had this very rarely and it surprises me that it should come at the end of a progression of myasthenic muscle sets to be involved and not at the beginning.

The left eye lid will droop just a little – it´s definitely mild, but it feels like more than just the eyelid is affected – around the cheek and eyebrow seem involved as well. One side of the face feels a bit like night and the other like day. I know it´s not a stroke as it´s fluctuating and will go away with a cooler breeze/change to a cooler room.

Does ptosis affect a larger area than just the eye itself?

Thanks

Anacrusis

Sounds like you are experiencing facial weakness in addition to ptosis. They commonly go together.

Sorry. :(`

I can´t believe it! It started at a party a couple of days ago after standing on my feet too long! :thud:

Thanks for answering so quick :)

Dear friend, well, thats exactlt what always happens to my face! Ptosis never comes alone here, I always have ptosis (1 side way more visible then other) accompanied by weak cheeks and no expression. Most of the time it's one side thats looks almost normal, the other side is weak and weird (stroke like).

Does yours feel a bit numb on the affected side and like something is pulling on the cheek (that´s the only way I can describe it I think)

I don't feel anything with my ptosis. If it is severe enough it will obstruct my vision. Other than that, I can only tell that I have it by looking in the mirror. Well that and by noticing that people are staring at my eyes and then they look away when I notice....

OK thanks :) So no sensation - good to know....

I occasionally get a little tingling and decreased sensation on the one side of my face with ptosis but it is rare. But all the muscles on the one side of my face seem a little droopy. I only have dimples on one side of my face!
kathie

Thanks much for sharing your ptosis symptoms Kathie!

I also got a really strange sensation at base of skull back again which might hang together – with this or it might not. Also my son has double vision and intermittent ptosis which has us all even more confused.

Will be good to get to first neuro appointment but don´t expect they will know more than you guys do :You-Rock:!

Anacrusis I know they say MG is not inherited but my mom and 2 of her sisters had it plus I think my sister has MG.
Mike

I think that the tendency to get ANYTHING is genetic. Even stuff that is caused by a specific organism will be more apt to get you if you have the right genetics. Also, there is not much known about it.

My cardiac arrhythmia problem that I had was said to not be inherited. My grandfather had it. My mother and all my sisters had it. I had it. I found out years after the fact that my first cousin had it. My daughter has it. We were all treated with ablations and are doing much better. My point is, it is genetic.

as you know, i'm not a confirmed MG diagnosis, but my symptoms started with my eyelids.. and then shortly thereafter my entire face.... I remember at one point my face felt funny.. and I looked in the mirror and thought I may have had a stroke (my right side is more affected than left)... after a few weeks or months (it's all a blur) of having symptoms- it was then generalized.. i was so upset by it all and dr's telling me it was stress (ugh).. that I was wiped out one night and started to cry.. only that my face wouldn't even make the "cry face"!!!! which upset me even more haha.. when my symptoms are at a flare, i have this ugly snarl even when I'm smiling or laughing hard, and I used to have a quite animated face!!!

On another note- cooler weather is on it's way here - yesterday (3 days post IVIG) I woke up breathing my easier.. and we were outside at a fair all day- once we got home and my husband was talking about how exhausted he was, and i was feeling great - i realized.. hey no double vision all day, my eyelids weren't droopy and I smiled all day without that tired muscle feeling and fr the first time in months no melting face in the weather!! YAY for fall!!! :)

Mike
Thinking back could there have been anything that your mom, her sisters, you and your sister could have all been exposed to that could have caused it? If not that is really amazing dont you think?

That is not possible. My sister and I have been apart almost all our lives and the same can be said of Moms sisters.
Mike

Here is my BIG pre-neuro appointment question for the day:

I can relate to just about all the symptoms I have read through on this forum the last 3 months. Someone here has already suggested looking into environmental toxicity.

IF that were to be the culprit then might the following be true about environmental toxicity?

1. Improves with Mestinon *
2. Fluctuating symptoms and remissions
3. Affects same sets of muscles as MG
4. Worsens with heat/improves with cold

We are doing some testing in the house. I´ve lived there for 20 years - also nothing ever happened until after I got pregnant/ got a virus/took antibiotics

* I don´t take Mestinon all the time but got really surprised it changed my vision so drastically with each dose taken.


I heard that congenital usually doesn´t respond to Mestinon which is what I use with good results. What you have is not congenital right? & if I remember correctly it took quite a while for your antibodies to´present themselves´.

Have you applied for that job at Mayo yet, Celeste?! :)

I know what you mean! Believe it or not where I live it was so chilly that we wore scarves and gloves one day last week and on those few days I felt so asymptomatic that I thought about leaving the forum!!!:wink:

Steph you always ask great questions for the good and enlightenment of all :grouphug:– Thank you

Well, I dont really feel the ptosis, I only know because I just see a little less or because I see myself in the mirror (or someone says, what are you doing?)
But because its always accomplied by weak facial muscles overall, cheecks, lips, etc, I do feel it. Because it feels.... I dont really know how to describe it. Something between thight, heavy, unmovable, weird, like my face is going to fall off a bit. Like Im wearing a mask, kind of.

Yes I have been DX'ed with CMS (congenital Myasthenia syndrone) plus others.
Mike

That really is an EXCELLENT description...Thanks and - see you soon :)
(Your mood is still hungover???!!!!)

Is it OK for me to ask if you all had symptoms from early childhood or did they start later on?

A.

Mine started at age 69. Mom was older as were her sisters. My sister was in her early 50's. Ask any questions you want. We all need to understand as much as we can about this disease.
Mike

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. :D

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? :eek: 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. :deadhorse:

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?:eek::eek:

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.
:hug:

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 :Clever:– 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.

Does the attachment picture of my son look like mild ptosis.....or am I totally way off? Any honest opinion welcome.


Thanks for this, Alice:

And even more so for sharing this:

Anacrusis

I diagnose him with beautiful eyes. As for ptosis, well, in the photo one eyelid is clearly higher up than the other. First, this might be just a quirk the camera caught. Is it just this photo, or do you notice this often when you look at him? If you do notice it, it may be just the way he was born, and it has nothing to do with MG. But I think the crucial question here is: do his eyes always look like this, or just sometimes? If this is variable--in other words, if his eyes seem equally open in the morning, but not in the evening or when he's tired--then it's definitely worth looking into. Also, even if it's not variable, if it's new, you should have him checked out. If you're not sure, look at older photos of him and see if you can notice it.

Congential myasthenic syndrome is hereditary. I believe that there are both dominant and recessive versions. Myasthenia gravis is not supposed to be hereditary, though a predisposition to autoimmune diseases in general certainly is. And then we have Mike (PingPongMan), who's a special case of everything... with CMS in the family and antibodies besides. Nobody can figure that guy out!

Abby

Anacrusis, If you have any concerns, just take your son to an ophthalmologist! A sideways photo is not as good as a straight on shot. And a photo is not as good as a shot at a doctor! ;)

Abby, I know someone whose sister has MG too. And another situation where it looks like that but the person won't get checked out! I have to wonder if it's more common than that. Is it actually getting reported and to whom?

And what if siblings have a less severe case of MG? In some dominant forms of CMS, one sibling can be very bad while there can be another where you can't even notice they have a problem but they test positive for that particular CMS. I wish the PDF and Powerpoint files I have weren't so huge or I'd post them.

Annie

Thanks for the nicest diagnosis our family has ever received, Abby!!....Annie, thanks as always :)

The´ptosis´ started 3 days after birth and is definitely fluctuating from normal to slightly ptotic especially with throat infections etc. One day it´s there the next day it´s not. Always the same eye though. It is getting a little worse over time but very very gradually. He also complains that all things have 2 lines just since this summer.....´Mummy it looks like two apples on top of each other but I know there is only one apple´.

We just got a call yesterday for an immediate appointment via referral. My son got to see both an orthoptist and ophthalmologist just a couple of hours ago. No nerve damage, some slow reaction times, no glasses necessary but still double vision. Showed a selection of pictures.....Ptosis was also elicited during the eye exam - yet the ice pack test did not resolve my son´s ptosis like it does with mine.....
His next stop will be a children´s neuro appointment at the hospital in 3 weeks time. The ophthalmologist´s opinion was that the neurologist would know much more about it than he. So there´s a neuro appointment for each of us now just around the corner, but first - a well deserved week of holiday.....

Just want to wish you good luck! Both with your son and with yourself, it must be weird to both have appointments.

I was totally thrown off my perch today.
I was expecting my son to be´discharged´from the neurologists office today after his mild ptosis failed to resolve with ice pack test at a previous ophthalmologist visit. So I sent my husband along with my son and did not go along myself. After a one hour exam and with his ptosis worse this evening than in the picture the neuro said he could not rule out the beginning stages of MG anyway. – So we now need to go back in again soon for more testing and also blood tests.
So.... - not what I was expecting :(

So sorry to hear that. I am sending good thoughts your way that nothing comes of it.

My son has a puffy lid like that...he was born with it.

In fact he also has some conjuntival swelling in the same eye.

As he grew up it became worse and we ended up at a specialist who did a CAT scan of his face and head. (looking for a sphenoid bone defect).

The diagnosis was congenital damage from an amniocentesis procedure I had...that the needle poked his cheek near the eye and upset the lymphatic drainage and caused the puffy eye.

He is also congenitally nearsighted (legally blind).

Here are two photos...
2) is at 3 mos before we had his specialist vision intervention at
8 months. His left eye always looks this way, sometimes a little less, others more.

1) This is a photo at 5 or 6 yrs...showing the eye, left again, but I had to enlarge it so it is blurry.
I can't tell you how many doctors we've seen over the years.
Recently he started getting blurry...and ended up at the Univ. of Michigan and saw 3 specialists who cannot fix it or help it any at all.

3) shows him as an adult...the angle looking up does not show the puffy lid as much but it is still there. It can be worse at allergy season, and this picture was taken in winter.

One puffy lid may be due to something else besides MG.

I would suggest a heavy metals test, as ptosis can occur with some mercury overloads, or other heavy metals, lead, arsenic etc.

This link has a photo of Freda Koss who had mercury toxicity. Her eye
shows the ptosis clearly. She has a separate website also discussing this environmental issue.
Scroll down this link to find her:
http://www.mercurypoisoned.com/FDA_h...am_safety.html

Believe me we have covered many many bases over the years, with my son's eyes and esp the left one. He does not have MG at all.

Just adding this to the thread because of our experiences.

Thank you Mrs D Your post has helped ´round out ´this thread for anyone needing more ptosis info. And thanks so much for sharing your story and photo examples of your (very handsome) boy!

The only other discrepancies that we have to consider in our family are the following:

1. We live in an area with high radon levels. We haven´t tested for quite a number of years.

2. I also got a high Uranium level on the heavy metal section of a hair mineral analysis test. I´m not entirely sure those tests are 100% valid though.

Thanks again,

The link for Freda Koss was quite fascinating
(I had all my mercury fillings replaced to see if it was causing CFS a number of years ago.The dentist warned me only two out at a time as she had previously worked on a patient who developed neurological symptoms from the excess of fine particles when drilling all out at the same time)

Anacrusis

To MrsD
 

I was thinking last night your family must have been through a lot. Normal life is enough but when you add health/disease problems with children into the picture - that is when the real challenge is presented for any family.

It really is one thing to suffer yourself, but when children do it´s another story. Everything takes on a completely different perspective. I do hope my son´s double vision (which presented itself at the neuros again) and mild ptosis are nothing serious but we´ll just take one day at a time now.
Once again just wanted to say - before it becomes too late - that I so appreciated the story you have shared on this thread.

I´m also glad to have heard that your son is doing well despite all the setbacks he has had to encounter during his life.

All the best to you – and to the cats as well!!!!!!

Anacrusis