Hello,

I am new her

I was wondering what you make of the following list:

-fluctuating fatigability / weakness in varying muscles, which increases with exercise and improves with short rest. Forcing when the muscle is already very tired can make the muscle temporarily unusable. Most affected muscles are in trunk, neck, legs. Sometimes in arms (shoulders) Few in chewing / swallowing muscles.

-fluctuating ptosis, sensitive to effort, improves with cold, worsenes with heat (heat increases the problem in other muscles too)

-extensive muscle testing in the hospital ( on a good day) shows muscle weakness in some muscle groups: neck (30 seconds instead of the 2 min your supposed to be able), hips / legs (mild, can make the 2 minute test, but can't lift my leg afterwards) and eyes (can not close them properly)

-single fiber EMG showed some mild deviations(2 with increased jitter, 1 with block) in a muscle which wasn't weak visibly weak at the moment of the test (not even after provocation). (more than 10% of the measurements, counts as a deviation, 3 out of 20 = 15%)

- I have hypothyroidism: auto-immune, there are other autoimmune diseases in the family

-antibody negative / RNS EMG negative

According to the doctor this can not possibly be myasthenia. In my idea there must be a misunderstanding. He asked if I ever considered visiting a psychologist, since I seemed to be obsessed with my symptoms (I had to discuss very long before every new test, so yes I am a bit obsessed by now)

I like your opinion before thinking what should be my next step.

If my English isn't very well I apologize for that, I live in a none English speaking country.

with kind regards,
Matilda

Hi,

welcome and your English writing is excellent

Why does your doctor think it cannot be MG? You're describing classic symptoms of the condition...

Matilda, I was in a similar position. I had symptoms of MG, but the antibody test was negative. When I had a single-fiber EMG, it was only border-line abnormal. Later I had a second SFEMG, and it was only slightly abnormal, but the neurologist didn't think it was abnormal enough to diagnose me with MG. He wanted to do nothing. I asked him to refer me to another neuromuscular specialist. He did (I had to travel an hour and a half). The second neurologist did another SFEMG and diagnosed me with MG. The first neurologist accepted his diagnosis.

I hope you can find a new neurologist, one who specializes in MG or at least in neuromuscular diseases. Your symptoms are very consistent with MG.

Abby

Thanks for your reactions.

I am puzzled why the neurologist says this. He is one of the few neurologists in my (small) country who specializes in Myasthenia’s. I have been to another neurologist. But he says he doesn’t know as much about these type of diseases as the first one, so he accepts his judgement without a doubt. And refuses to do any more tests.

Problem is I was suspected of having mitochondrial disease for a long time, the suspicion was quit strong since I do have other proven diseases that come with mitochondrial disease. Mitochondrial disease has never been proven in any test though. Mitochondrial disease also has a pattern of muscle fatigue with exertion an improvement with rest. I have always had my doubts about the mitochondrial disease though, something wasn’t fitting there. Last year I had an maximum exercise test with a cardiologist and to my surprise it was perfect. Someone with mitochondrial disease affecting their muscle could never do a perfect exercise test at one time an have serious trouble walking another time, I have fluctuating trouble most of the time, but this was a lucky coincidence, I don’t think I have experienced such a good day since.

I thought that every neurologist would immediately realize that I couln’t have mitochondrial disease, but I have seen 3 (!) doctors (of whom two are neurologist) since then, all saying I should accept that I probably have mitochondrial disease. They all say people with myasthenia do not have pain, which I do. They also think I should have more trouble with my facial an throat muscle.

At my last appointment the mg neurologist finally admitted that I couldn’t have mitochondrial disease. (after I tried to get him to read a scientific article about exercise testing in metabolic myopathys for months).But instead of rethinking my symptoms he suggested the psychologist.

The mg specialist also tested for LEMS after I almost begged him, but those test were negative. I do have constipation, dry eyes, dry mouth and orthostatic hypotension. Those symptoms vary at the same time as the rest of my symptoms. He says his tests are 100% reliable.

It is really strange for me hearing him talking about going to a psychologist. Only a few months ago some other doctor wanted me to go to a psychologist to learn to except the diagnose of mitochondrial disease (at that time I already had the exercise test, so I knew that couldn’t be the right diagnoses). And before I got the ‘suspected mitochondrial disease’ diagnosis I was supposed to be someone denying her depressive symptoms, which in turn lead to the physical symptoms.

I did manage to get mestinon at some point and it does something, but not what should be expected. I mainly helps with symptoms that didn’t really bother me in the first place, like the ptosis (which is usually mild)

Sigh.

Where you ever tested for MuSK MG?

My first neurologist said that I was crazy. Even if I am crazy, how can insanity cause ptosis? It sounds like you have MG. Have you tried to put ice on your eye for 5 -10 minutes and check to see if it reversed the ptosis? This "ice pack" test is what made my doctor call my illness MG.

Matilda, Hi and welcome.

Actually, muscles in mitochondrial diseases do not fluctuate like they do in MG! Mitochondrial diseases tend to be static or progressively disabling.

I agree with these guys that what you're describing sounds like MG. There are very objective markers they can look at - like fatigable ptosis - that can show if you have MG or not.

Orthostatic hypotension could be from dehydration too! No diagnosis should be made on a collection of symptoms that don't all fit one diagnosis. You could have more than one thing going on.

Don't sweat the psychologist crap. They tend to do that to many people, especially women, when they can't easily figure something out. You obviously have a very real disease state.

Your response to Mestinon sounds like a typical response. Mestinon does not get rid of ALL muscle weakness! It helps our muscles to be stronger but does not address the immune response that is attacking our muscle receptors.

An MG expert I saw said that he can have MG patients who need a wheelchair and can hardly stand and have a normal SFEMG. Then he can have patients with a seemingly mild case of MG with a highly abnormal SFEMG with blocking. Or anywhere in between!

Your SFEMG results need to be combined with the clinical exam and other tests to diagnose MG. A SFEMG is not specific for MG but is sensitive for it. Having blocking on a SFEMG is pretty indicative of MG, however.

Do you have copies of your antibody tests? If not, get them! And do ask for the MuSK antibody test, like Alice asked about, if you can.

If you have trouble breathing, you can have a pulmonologist assess that to see if you have fatigable chest wall muscle weakness. MIP (maximum inspiratory pressure) and MEP (maximum expiratory pressure) are the breathing tests more specific to MG and other neuromuscular diseases.

You can see a neuro-ophthalmologist to assess your ptosis and check for double vision.

Sometimes it takes seeing more than one doctor or specialist to figure out what is going on. I really hope someone takes you seriously soon because undiagnosed and untreated MG can be dangerous. If you ever get suddenly weak, can't swallow, move or breathe well, get an ambulance and get to the hospital right away!

Hang in there. Keep trusting your instincts and trying to get help!

Annie

I have very similar situation to yours re symptoms and tests, including hashimoto's and other previous auto immune disease and dr diagnosed as MG so it isvery subjective. I would
try another doctor especially since that one has prejudged your interest in educating yourself as being obsessive as opposed to being interested and concerned about understanding what is going on with your body. J