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new and nervous about getting diagnosis - advice required
Hi all,
First of all that’s for sharing your stories and advice, reading this forum has helped me feel far less alone. I’m in the process of trying to get a diagnosis and am hoping to get some advice from those of you who have been there. Long story but here goes…. About two and a half years ago when I was 31 years old, I suddenly noticed my right eyelid was dropping out of nowhere. I goggled a bit and read some information about ocular MG and the ice test. I tried the ice test and was really surprised that my lid jumped back into its rightful position. I went and saw my GP who agreed I had ptosis and she referred me to an ophthalmologist. On a side note - around the same time I got the ptosis I got all the symptoms of being hypothyroid. Hair turned dry and brittle and started falling out by the handful, my skin became pale and veins showed through, my tongue is swollen and has teeth marks on the side, my periods have become irregular after being clockwork for years, I’m cold, lethargic tired all the time. I’ve only recently had a thyroid blood test and still don’t know what the results are but I seem to have a lot of the symptoms. When I saw the ophthalmologist two years ago he was completely dismissive of the ptosis and told me that my problem was that my contact lenses were too tight, which is absurd, as I’ve never had any issues with my contacts and had been wearing them for over ten years with no problems. I mentioned the ice test and he sad it was irrelevant. He sent me to get my antibodies test at the hospital lab regardless and gave me an appointment in three months time. My optometrist looked at my contacts, he said they seemed fine but he gave me a larger pair yet it made no difference to the ptosis and it makes no difference to the ptosis if I wear glasses instead. When I returned three months later I was told the appointment was reschedules for yet another three months in the future. Fed up I asked a nurse about the blood test results. They said they had no record of them in my file but she said she’d chase it up and they would post them to me. I received the results by mail which came back in the borderline / positive range. My dad who is a doctor (and OBG) said that didn’t necessarily mean I had MG but he admitted he didn’t really know how to interrupt it. He also said if I didn’t have limb weakness then it couldn’t be myasthenia. It seemed like he had never heard of having purely OMG. I took his word for it and went and consulted an eyelid surgeon privately. She told me that it was possible that I had levator damage from contact lens use but it was difficult to say for sure. She said because the ptosis was so variable then surgery wasn’t an option until it became constant. She said she might be able to do something if the ptosis stabilized. Fast-forward to today and I still have ptosis that is fine in the morning but bad by afternoon and awful at night. I now have ptosis in both eyes although it’s always worse in the right. I also get blurry vision after staring at a computer for a few hours or reading although I’ve never get much double vision. In the last couple of months I’ve started experiencing limb weakness in my legs and arms. I’ve had a few experiences of walking along and feeling like I’m wading through mud or dragging my legs, which feel heavy like I have concrete shoes, and I’ve had to rest after walking a few blocks. I also experience this sometimes on stairs. But other days I’m fine and running around with no issues and I wonder if I imagined those previous episodes. I’ve also had a few bouts of arm weakness. I work in TV and there was one day when I was on a shoot and I was operating a camera hand held and it felt like I couldn’t hold the camera anymore. My arms felt so weak that I couldn’t hold them up I felt like I was going to drop the camera. I had to call someone else do the job for me and everyone looked at me as if I was crazy because the camera wasn’t heavy. My co ordination is also a bit off. I drop things a lot. Every lid of take of jars gets dropped. My typing is always a few keys off the mark and riddled with errors. There have been times when I’ve been holding a glass and talking to someone and suddenly out of no wear my grip loosened and it falls on the floor and smashes. The limb weakness is fairly intermittent and doesn’t cause huge problems in my day-to-day life but the ptosis is the bane of my life. It’s impossible to control my own eyes and eyelids when they are tired. My job requires me to stare at a screen all day long but my eyelids will droop dramatically after a few hours my vision will blur. For the past year I’ve been breaking up my workday quite a bit to stop the ptosis from looking awful whilst at work but it makes me so ineffective. If I work all day my eyes look awful and people will comment that I look sleepy or that there is something wrong with my eye. I’ve seen myself on work video and I can see the right eyelid lags behind my left eyelid when I blink or look around. I’ve noticed this from playing footage frame by frame whereas everyone else lids move together in perfect alignment. After having all these issues I did the ice test again and my eyelids both shot back into position. I started to do some more research and found a lot of sources mentions that OMG was very common in Chinese, Japanese and Koreans and tended to co-exist with thyroiditis and that subsequently the course of their OMG tended to be quite mild. Suddenly I felt like maybe I’d found an answer as I am ethically half Chinese and I seem to have all the thyroid symptoms. Both condition appeared around the same time or within a few month of each other. I’ve now gone back to see a neurologist through private health insurance to see if he can help. He reordered the antibodies test and gave thyroid test as well. I showed him a picture of my eyes before and after ice but he didn’t really react one way or the other. He said he couldn’t see any eye fatigue on the 30 second up gaze. It takes more than that to tire my eyes if they’re not already exhausted. My ptosis wasn’t too bad that day as I hadn’t been using a computer. However he did notice some leg weakness. He also sent me to get and EMG and SFEMG. I have no idea what the blood test results were as he’s on holidays and due to upcoming public holidays I’ll have at least two more weeks to wait. I went and got the EMG and SFEMG this morning at 9am I was freezing cold and well rested so not really optimal conditions for showing muscle fatigue. The doctor doing the EMG said he didn’t see anything that indicated MG. The SFEMG was done in the left side of my face although I don’t know if I did it right. So my first question is – Are you supposed to open and close your eyes during the SFEMG? I kept them closed the whole time because the needle was freaking me out. There were a few times he instructed me to close my eyes but my eyes were already closed. After thinking about it - was I supposed to be blinking as instructed and would that mess up the results? He said that he had to analyze the data but the initial results he saw didn’t indicate any MG. So now I’m kind of freaking out since a SFEMG is supposed to be so accurate. My second question is. I was going to post a before an after picture of the ice test on my Ptosis for your opinion but I can't until I have more posts I'll try and do it soon. My third question is – I know I seem to have some kind of fatigable ptosis that reacts well to ice but if it’s not OMG what else could it be? Would any other kind of Ptosis behave this way? My fourth question is what was your experience of going from OMG to generalized MG? Did it feel anything like I described? Fifth question – How do I advocate for myself with neurologist? I feel like they seem quite disbelieving. I’m really worried all the results will come back negative and then I’m stuck with a bunch of symptoms with no solution. If everything comes back negative is it possible my neuro would let me try mestinon trial? I desperately want to see if it helps the ptosis if not I can explore the surgery option but I really don’t want to cut into my eyelid unless I can rule out OMG for sure. Thanks so much for reading this super long advise. Your advice would be much appreciated. It feels like these next few weeks will drag whilst I wait for answers. I hope everyone out there who is struggling with MG or getting a diagnosis is doing ok and that you all feel better soon. |
Hello eyejoin
I just wanted to say hello. I am sorry you are going through all the uncertainty that comes with a hard dX. I can tell you one thing that will help with your neurologist. Bring a journal with you of all you have experienced. Also if you have someone with you in the room, the doctor has a tendency, to listen a bit better, and pay attention. If he responds, and you miss something, the other person can help you. I did this with all my appointments, and found that the doctors I saw, took more time with me, and listened much better. I hope that you can find answers to all the questions you have. Please let me know how you do. ginnie:grouphug:
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I can't answer many of your questions because I was dx'd with general MG before any eye symptoms were evident to me. But I will say that your descriptions of the leg and arm weakness are EXACTLY what I experience. And the fact that it can be intermittent - - that's MG.
There are a few folks here who have both MG and thyroid dx's. I'm sure they will be able to help you more than I. Perhaps your father can check around to see if he can find a neuro who currently treats patients with MG. They are the ones who really get it. Don't give up - - it can take an irritating long time to get a dx. |
Hang in there, go with your instincts. Depending on where you live and the doctors available this could take some time. Be patient!
Mike |
We have very similar symptoms. Like you, mine started out as Ocular MG and has generalized to arm and leg weakness. When I am tired I develop ptosis around my right eye brow and my right eye crosses inward (esotropia) which causes double vision (diplopia).
I started taking Pyridostigmine Bromide (Mestinon) in February and it has been a LIFE SAVER :-) I keep reading on forums that Mestinon doesn't work for diplopia or a crossed eye, but it has for me! It has also really helped with my arm and ankle weakness. I take 60mg 3 x day. Unfortunately, one pill only lasts about 3-4 hours, ugh. Sometimes, I wonder if I *really* have MG; but the fact that Mestinon works so well is a pretty convincing indicator that I do. One idea would be to ask your neurologist for a one month supply of Pyridostigmine Bromide (Mestinon). You will know if it is working by just looking in the mirror :-) lol Please keep us updated :-) |
Hi, eyejoin. Welcome to the forum!
I'll answer your questions first. 1. Yes, the SFEMG requires your participation in contracting muscles while the doctor attempts to find any "jitter" or blocking while you do that. It's not necessary to do that for a regular EMG or RNS. 2. Yes, do post a before and after. If you can take the photos in the exact same light, exposure, and background, with the same head tilt, that will really help. 3. The only diseases that cause fatigable ptosis are MG, LEMS, and the Congenital Myasthenic Syndromes. Fixed ptosis has other causes. 4. If you're having that many generalized issues with strength, AND you have MG, no way is it only ocular MG! ;) In fact, they have done SFEMGs on the limbs of people who allegedly only have ocular MG and have found positive test results, even if there is no obvious clinical correlation. 5. MG will persist in drooping your eyelids, even with surgery. There are many muscles in the fact and you can't lift them all without looking like your face is frozen! This has to be a separate topic: How to deal with neurologists? They can be quite arrogant. If you don't have an MG expert helping you, the neurologist might have only read that two page spread in most medical textbooks on MG. And they might only have had a handful of MG patients. Doctors, in general, don't like to look or feel stupid. Who does? I personally think that neuros should be resolved to feel stupid, because the human body can always surprise a doctor and there's no way they could ever know everything! Do you have an MG expert? If you said what area you live in, someone might be able to point you in the direction of a good neuro. It helps if you bring someone with you to an appt. They can back up your "story" to the doctor. Or take notes for you. Or advocate for you, if you're worn out. Being calm and matter-of-fact with doctors helps. You know, not overly assertive but not a wimp either. ;) You seem very methodical, the way you wrote your post, so that's good. Beyond that, you really need an expert. Ptosis from contacts? Oh, brother, what nonsense. Do contacts cause your legs to feel like lead weights, too? Talk about illogical. Did you see a neuro-ophthalmologist? They are the ones who can specifically say if your ptosis is fatigable. They do very specific tests to do so. You say you have blurry vision, and not double. You might not realize that you do! Take your pointer finger and hold it in front of your eyes about a foot away. Then, keeping your head still and only moving your eyes, move your finger from side to side. Do you see double at any point in the field of vision? If you do, does it go away when you close one eye? MG ptosis is caused binocular, and when you close one eye, it goes away. Why? Because the muscles of each eye do not get weak "equally" and, therefore, focus differently on objects, causing the DV! Can you list what the results of the antibody tests were? Both the results and the ranges? Don't kid yourself into thinking that if you have MG and are ethnically half Chinese that MG will stay mild!!! It doesn't sound like you have mild symptoms at all. MG is highly unpredictable, and can vary from hour to hour and day to day. Are you short of breath? If you are, that's one more bit of "proof" you can document. See a pulmonologist who can do full PFT's on you. That would include MEP (maximum expiratory pressure) and MIP (maximum inspiratory pressure). Basically, the tests are specific to neuromuscular diseases and shows how you are doing at breathing air in and out. You should know that heat can make MG dramatically worse. Stress, lack of sleep, infections, surgery (like that eye surgery), etc. can make it worse, too. Certain drugs can, too. The eye drops optometrists use contain Atropine, which does the opposite of Mestinon, one of the drugs used to make MG better. If you ever can't move well, can't breathe well, or can't swallow, that is a 911 type of MG emergency. MG can go downhill rather quickly and you need to be in an ER at that point. Don't be stubborn and drive yourself in. ;) Do you know if they ran both the Acetylcholine and MuSK antibodies? If you aren't positive on them, that does NOT mean you don't have MG. A lot of MGers have thyroid problems, too. I have MG and celiac disease. I hope your doctors will realize that you can have more than one thing going on and not attribute all of your symptoms to one disease! Let us know what else you need, okay? To me, it sounds like you have fatigable (instead of static) weakness. No matter what the cause, it needs to be defined and treated!! I hope you get the test results soon. In the meantime, take things a little easier so that you don't get worse. Annie |
This reply is so informative! :-) THANK you!
I am so glad someone actually answered her questions. :-)
--- I was just way too tired last night :-p Quote:
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Thanks everyone for all your responses and warm welcomes :) And thanks for answering all my questions Annie.
I don't have much too report. I received a copy of the findings of my first consultation letter from my neurologist. He was very detailed in writing up all the history I gave to him. He's a myasthenia expert based in at one of the big hospitals at South London so I guess I'm seeing the right guy. He's very poker faced when you talk to him so it's hard to gauge his response. He's overall finding and recommendations were "Clinically it is not definite that she has myasthenia, but the symptoms might be suggestive and some additional symptoms might suggest thyroid disorder which could be immune. For this reason I am arranging to recheck the acetylcholine receptor antibodies, thyroid function and autoantibody screen. She will also have neurophysiology study to include repetitive stimulation and single fibre EMG" Unfortunately I no longer have the results of my initial antibodies test from a few years ago. I accidently threw the piece of paper out whilst cleaning up. I don't even remember how the results were presented but I remember being able to understand that it hadn't come back as a negative. I also have a referral letter from another doctor where they wrote that the results were borderline / weak positive. So that's all the information I'm working with. I'm living in London by myself all my family are back in Australia which is why I'm finding the medical system a bit harder to navigate as I'm quite unfamilar with it. I can't post a picture of my ptosis before and after ice due to being a junior member. Is it possible i can PM it to someone that can post it for me? I've also recently read that it's possible to have ptosis from being hypothyroid. I don't know if anyone has any experience of it? But I guess it may me possible in my case. Do you also all find that alcohol seems to make your ptosis get worse really quickly? One beer or wine seems to make a huge impact on my eyes. It's kind of strange that the Dr doing the SFEMG couldn't seem to tell whether I was moving the muscle or not. I would have thought it was a sensitive test that they'll be able to pick up on the fact that you weren't contracting a muscle as directed. Weird. I'll keep you updated. I don't see the neurologist again until the end of the month. How everyone is keeping well :) |
you wrote: "Do you also all find that alcohol seems to make your ptosis get worse really quickly? One beer or wine seems to make a huge impact on my eyes."
my answer: YES! |
Hypothyroidism can definitely cause ptosis. I had it for years and until my other symptoms got out of the realm of hypothyroidism, I blamed them all on that.
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A few sips!
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When I would attempt to drink an "adult beverage" after only a few sips, I would have dbl vision and I would stumble around like a drunk. In seeking a dx, I would share this with various Drs and I would get the 'eye roll' Thanks Bipedal! Till seeing your post, I thought I was nuts! |
I guess it makes sense that alcohol would make muscle weakness apparent very quickly. I'm glad I'm not the only one. It definitely stops you over indulging in social situations.
Wow Maggie - 8 years is a really long time to wait for a diagnosis! How bad did your symptoms get and how did they eventually realise that it was MG? When did you first go to a doctor? Thanks for your reply on the hypothyroid ptosis Limpy. Do you attribute your ptosis to thyroid issues or the myasthenia? Is there any way of telling the difference? |
I'd like to clarify a couple of things, in an effort to be helpful.
A thyroid condition can cause ptosis, but not fatigable ptosis. Yes, the ptosis can be variable, along with any changes in the thyroid condition, but that is not the same as fatigable. Muscles are fatigable in MG because we run out of the acetylcholine that makes them work. That might seem like an obvious statement, but there are times that even doctors lose sight of that simple truth. Sort of similar to when a battery runs out and can't run your cell phone or other devices. And there are other signs such as Cogan's lid twitch and enhanced ptosis that can differentiate MG from other conditions, in addition to the fatigability. LEMS patients can also have enhanced ptosis. That's why seeing a neuro-ophthalmologist is so helpful if you suspect you have MG. http://www.ncbi.nlm.nih.gov/pubmed/21654336 http://archneur.jamanetwork.com/arti...ticleid=580026 If an MG patient has double vision, they do indeed have ptosis. It might not be noticeable, but "uneven" muscle strength of intraocular and extraocular (you can't see those) muscles, not to mention facial muscles, is what causes double vision in MG. If you close one eye and the double vision goes away, that's one more sign that there is uneven focusing of the eyes! Any drug that relaxes the muscles, as alcohol does, can make MG worse. Meditation takes the edge off just as well as alcohol. ;) And in order to get the good mood hormones such as endorphins and oxytocin going in the body, you need to move/exercise. Since MG sometimes limits the ability of the body to exercise, you can feel more depressed with MG. Although, here are some ways to increase oxytocin without exercising. http://www.psychologytoday.com/blog/...raise-oxytocin But don't do #6 on her list, unless you know you'll be okay. I wouldn't exactly recommend #4 either. And a lot of you might not appreciate #3, since you have cats. ;) Eyejoin, As long as your doctor(s) is being logical and thorough, there's no reason they can't diagnose what is going on. The most important thing is to take care of yourself right now. Try not to worry! Annie |
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Yes, 8 years is a long time, however, many here waited as long or longer for their dx. My symptoms started 8 years ago after a head injury. At first, my symptoms were ocular only. Within a year, I started having muscle weakness in my arms and legs. Over time, all symptoms worsened in freq. and severity. My neuro thought all symptoms stemmed from the head injury, totally overlooking the possibility of MG. Last fall, my neuro opthamologist, within a 10 min. exam, suggested that I had MG. Within weeks, my symptoms worsened to the degree that I could barely walk. I had blurred or dbl vision most of the time. My balance and coordination were so bad I would freq fall into walls. Then, Last November, I had surgery for a small bowel obstruction (my surgeon actually believes that the obstruction was caused by MG) during that surgery, I quit breathing. Because I had forewarned the Drs that I had a tentative dx of MG, they immed began treating me with mestinon, high doses of prednisone and a round of IVIG. I now had a group of Drs on my side, one of whom was instrumental in getting me onto the schedule of a local neurologist. So far in testing I'm seronegative. However, both my neurologist and neuromuscular dr have confirmed a dx of MG My current treatment is mestinon timespan. I'm still working on the dosage. I see my neurologist next week so hopefully I'll have more to report after that visit Good luck to you. You've found a great source of information within this forum. I know they've helped me immensely Jan |
@ Maggie. That's a pretty dramatic way to get diagnosed. I'm glad you finally got onto the right treatment and diagnosis.
Thanks for the information on ptosis Annie. I think if the neurologist finds nothing I might go get it checked by a neuro-opthamologist to see if they can shed any light on it. Interesting link. I've also noticed when I've tried the upgaze in the mirror my better eye does seem to tire and close much quicker than the one that normally has more severe and constant ptosis. |
Simply pull up on the droopy eyelid for ten seconds. Then watch how the eyelids play see seesaw. ;)
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Hiya,
I am also based in the Uk so maybe I will be able to help a little. Have you been in contact with https://www.mga-charity.org/ they are the UK charity for MG. I rang them years ago and they were very helpful. I was initially diagnosed with ocular MG and then generalised and then that diagnosis was removed. The charity told me that no dr should be diagnosing purely ocular MG within the first two years of diagnosis as most people present with eye problems and then it progresses over the two years. There is a specialist MG centre not far from you in Oxford - John Radcliffe hospital. There are specialist neuro ophthalmologists and neurologists etc. My case is difficult the ophthalmologist there told me I had MG only for his boss the guy that is the chief UK expert over ruled him! I am negative on all tests except the ice pack test. Having researched this for the last 7 years I know MG is the only disease / condition where the ptosis resolves when ice is applied. No one can explain to me why mine resolves if it isn't MG! But I am past caring now as I have too many other medical issues going on. You have the right to a second opinion and you have the right to ask to see a specialist any where within the UK - as long as your GP agrees to your referral. If you want the name of the guy I saw then please private message me and I will supply it. I hope you get some answers soon. Rach x |
Hi everyone,
Thanks for all the replies and support. I haven't checked this forum for a while but I thought I'd post an update on my situation in case it helps someone else. I had all the tests for Myasthenia and had to wait for the results over easter. During the easter break everything suddenly seemed to go downhill. I went from having minor episodes of weakness to suddenly experiencing full blown attack of flaccid paralysis in my arms and legs that would just hit out of no where. The first few occurred during a work and everyone thought I was having a stroke. It also affected my eyelids and made the ptosis occur. I thought it was just untreated myasthenia. I emailed my neurologist when the situation didn't improve after two days. He emailed back and said that the blood tests, EMG and SFEMg showed no signs of myasthenia and I should wait to next consultation and we could discuss what else the problem might be. I mentally flipped out and then jumped on google and looked up episodes of paralysis. I found out about periodic paralysis and thyrotoxic periodic paralysis which is a rare condition that can occur in asians who become hyperthyroid and gone thyrotoxic. Although it usually only happens to asian men and usually isn't seen outside of asian countries - so I managed to fall into that annoying 0.01% category. Finally everything made sense. I'd been having attacks of paralysis in my arms for the past year whilst lying in bed. I always wrote it off as sleep paralysis - even though I was fully awake each time and each episodes lasted over ten minutes. All the weakness I've experienced during the day had been abortive attacks which haven't progressed to full blown paralysis and the eyelids have been equally affected accounting for all the fluctuating ptosis over the past two years. Frustrating my thyroid is only the tiniest bit elevated and they can't understand why I'm so symptomatic and have gone thyrotoxic. I anticipate having the same problems whilst chasing down the thyroid problem when I finally get to see the endocrinologist. My neurologist is insisting that I have another specific EMG test to confirm the diagnosis of periodic paralysis which I'm having trouble obtaining because nobody performs this test as the condition is rare. I've been like this for three weeks now and have missed a lot of work. I'm hoping that I can sort out my thyroid and put this experience behind me. But frustratingly my neuro is suggesting I might have the inherited version of this disorder because my thyroid looks fine despite all the hyperthyroid symptoms. (Agggh.... I just wanted to punch him at that point) He also seems to think I need a diagnosis before treatment. The only way to stop this happening is for them to get my thyroid back to the perfect level and treat it with beta blockers in the meantime. The McManus test for periodic paralysis only has only an 80% pick up rate and that makes me nervous. Why do they seem to make it all so difficult? The symptoms all add up - It seems like a no brainer to me. Special thoughts go out to those of you who are still chasing a diagnosis. Especially those of you who are being disbelieved, dismissed or having diagnosis revoked. I can truly sympathise with what you must all experience on a daily basis and how debilitating neuromuscular illnesses are. It's a really horrible place to be and I do hope that things get better and the picture becomes clearer for a final diagnosis. Thanks for all the support. It was nice to speak to people in the same drifting life boat :) :grouphug: |
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I'll check out your blog. I did look at the Mga-charity website whilst looking for information and it seems like a great organisation. I'm still unsure why my ptosis reacts so well to ice. I have really bad eyelid myotonia in both eyes due to either the periodic paralysis or being hyperthyroid or both - maybe I don't know. But I'm hoping it's all just a part of the PP puzzle. Part of me has wondered if I have ocular MG on top of the PP. If I confirm the PP diagnosis and get treated with Beta Blockers and it makes the ptosis worse than that might provide some answers. |
After reading you post about your success with the ice test, I tried it and it didn't seem to do anything for my annoying <ptosis> droopy eye brow and droopy eye lid. :-( I cringe, when people want to take my photo :-/
I was thinking, if this works, this would be great for family photos,------ "wait, hold that picture taking, I need to get my Icepack!" {{{LMAO}}} :-) I used a regular icepack from my freezer, and gently pressed it on the right side of my face/ eye area for 3 minutes. Do you know the specifics of the "clinical" icepack tests that Nueros Do? --- do you hold the icepack over the whole face or only where the ptosis is presenting? --how long are you "supposed" to leave the icepack on your face? |
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I just read an article that says to hold the ice pack on the affected area for approx. 2 minutes. Hope this helps Jan |
I'm no expert - but I closed my eye and held the ice over the levator muscle for about a minute and the lid springs back upon opening the eye.
I wondered if I was doing right as well. I googled the ice test for myasthenia and found a video. It seemed like that was what they were doing in the video. Hope this helps. You'll need to be quick with the camera though - the effect only lasts a few minutes :winky: |
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