Hi all, Sorry this is a long post but I need some help from you:

Please provide an objective opinion on what this could be. I have autoimmune diseases and other diseases/syndromes but my question is only about my neurological symptoms.

Sero-negative on all labs for MG, including musk. MRI brain/eye orbit negative, CT thymus negative, NCV negative, EMG revealed fasciculations only, 2 GI studies revealed oropharyngeal neuromuscular weakness and an aberrant right subclavian artery. CK was 2400 in Sep 2013 but went down to normal on subsequent tests. Aldolase was normal fall of 2013. Electrolyte panel and all vitamin/mineral lab tests are always normal (tested multiple times per year when I have my thyroid and kidney & liver labs).

Symptoms:
Dysphagia liquid and solid
Shortness of breath/cant get enough air in
Feels like worms in chest
Fasciculations in feet 24/7 since March 2013
Paresthesia in legs and right side of my face
Severe foot cramps and pain (cramp can last an hour or two)
Hand cramps and pain
Cramps on sides of head above ears
Sporadic twitches all over
Tremors and vibrations
Rash on chest since March 2013
Eye weakness, ptosis, diplopia
Thigh and shoulder weakness
Neck weakness (back and sides)
Chilblains
Cognitive difficulty (SLP says "deficit in executive function")
Hair loss since June 2013 (telogen effluvium per dermatologist)

I am on the following meds: Baclofen 20 mg day, Mestinon 90+ mg day, Synthroid 100 mcg day, Cytomel 20 mcg day, Bupropion 300 mg day, Famotidine 80 mg day, Hydroxyzine 10 mg or less per day, Pro-air, Ocella and Nitro-bid. I take multivitamins, vit C, BCAA's, L-glutamine, Cinnulin PF, Jarrow EPS, Halo. I have been on all RX meds for over a decade except the Mestinon was started in 2012 and Baclofen last summer. No caffeine. No alcohol, drugs or smoking.

These symptoms have presented over the past 72 months and I've been treated by a Neurologist since Nov 2011. She was treating me as sero-negative MG but since the spasms and cramping started a year ago, she really thinks it's something else but cannot tell me what it is. I tell her that my Vascular Surgeon says it's MG causing the dysphagia, the Radiologist who did the GI's told me it's neuromuscular oro-pharyngeal weakness and showed me the video of the study I saw the left side is not coordinated with the right, causing dysphagia. The neuro still says it cannot be MG because I do not have "profound" symptoms when she evaluates me a few times each year and the labs are always negative.
She says she is only giving me Mestinon because I say it helps me.

I can tell you the spasms did not go away when I stopped Mestinon for 30 days before the EMG last summer. Yesterday the neuro told me to try stopping Mestinon again to see if the spasms/cramping stops. I am very mad because I've already done this for her and it proved the medication was not the cause. I do not want to have a crisis (breathing). Although the breathing issues do not happen too often, I can control it by taking 30-60 mg Mestinon when it starts acting up and in 15-20 minutes it usually goes away. The neuro says that Mestinon helps anyone that takes it so just because it helps me does not mean I have MG.

People with MG, don't your symptoms wax and wane like mine? Aren't they always different in severity? Don't you feel ok for a few days and then have a bad day or two?

That is how I experience my symptoms. Every day is different. I may have 4 or 5 good days then 1 to 3 bad days then back to good. It just goes back and forth always. The spasms are always there 24/7 (feet). The cramping in feet is worse after a day at work. The right foot has more spasms than the left. The left foot has more severe cramps that last hours and hurt beyond belief. The cramp is in the arch from the heel to big toe. It makes my foot feel bruised the next day and it happens a couple times a week. I have normal foot cramps in both feet daily and the toes move around in all directions on their own. They start when I am active or just sitting on the recliner. I get daily cramping in my hands and fingers - painful. I have to stop using my hands for a while to fix it.

Sorry for the long post but I am beyond upset with my neuro for putting me through all this. I need you, a person who's had MG for at least 3-5 years to tell me what you think.

Thank you.

I am seronegative. My weakness is waxing and waning. I have muscle fasiculations. I have some muscle cramping occasionally, but nothing near the magnitude of what you are describing. My neuro is convinced that I have MG. I guess he is right. I'm really not sure.

I have Lems and possibly seronegative mg, but have never been denied mestinon, even when I didn't have a confirmed diagnosis. I would advise you to get an unbiased second opinion. Many of us have had to get more than one doctor before getting diagnosed and properly treated. Some, unfirtunately, are still searching.

I have double seronegative MG confirmed by single fiber emg. I also have symptoms not typical of MG, that started before diagnosis and all the meds. These include severe tinnitus, diarrhea, muscle cramping and fasciliation, lots of pain like being stabbed with dozens of knives all at once, and limbs going numb, and several different types of rashes. Most of my doctors think these symptoms are an autonomic component of an autoimmune disease since they wax and wane with my MG. They improve with prednisone and IVIG just like my MG. Don't be afraid to try another neuro. It took me dozens of specialist and 3 neuros to get a diagnosis and proper treatment.

good luck
kathie

SO sorry to hear you are going through all of this - the first thing that really stands out in your case by far is that CK!!! that is a very high CK - even if it went down in the following tests, I would think that could potentially hold your answers - have you had a muscle biopsy?? With proximal weakness, dysphagia etc.. very much could be some sort of polymyositis, or with the rash - dermatomyositis... even with a normal adolase, that ck is impressive.. is your ANA elevated usually? (not that that really matters either, just curious)..

And yes,, I had to see multiple neuros.. i finally crashed while in the silly limbo period of we will test this... wait.... and if negative, test something else ... and wait.... then I crashed.. still technically a mystery, but LEMS is highest on the list with autonomic involvement ..

Hi, HDJJ. Welcome to the forum. I'm just going to throw out a bunch of thoughts from the information you've given. It's so hard to say what is going on, but you can at least muse all of this over.

Do you have lupus? Some of your symptoms (rash, hair loss, chilblains, etc.) point to that. Have you been tested for it? A dermatologist can do a skin biopsy to see what type of rash you have. You should really see one who specializes in lupus or other inflammatory conditions. Did the sun or fluorescent lights precipitate the rash?

Myositis, and a CPK, can fluctuate. Had you been exercising within 5 days of that first CPK that was high? Have you seen a rheumatologist? They normally deal with any "itis" or lupus, not neurologists. It might be useful to have a second opinion with one.

http://www.myositis.org/learn-about-...is/blood-tests

Do you have double vision? Have you seen a neuro-ophthalmologist to test for that? Do you have ptosis (droopy eyelids)? MGers can also have droopy eyebrows and the entire face can droop.

Is the hair loss on your head? Eyebrows? Has it been termed alopecia, or has a cause been found?

Have you had your vitamin D3 and B12 checked?

Do you have a primary doctor who checks any side effects or interactions of the drugs you're on? You say that you've had electrolytes, etc. done but have they been done in the morning, while you are fasting?

Have you spoken to a cardiologist about peripheral artery disease?

Has anyone done a celiac disease antibody panel?

It's quite possible that there is more than one thing going on here. So many of us do have more than MG going on, unfortunately.

Since you are short of breath, have you seen a pulmonologist to see what type of breathing pattern you have? If so, have they done MIP and MEP, which show how you are doing at breathing air in and out? That is a test more specific to neuromuscular diseases. You should at the very least see one! Difficulty breathing is nothing to mess with, especially for MGers.

I'm sorry you have so much going on. It's obvious that the doctors you're seeing aren't thinking about the whole picture. You might have MG but it sounds more inflammatory in nature, at least to me.

Please do some more doctoring with other specialists, if you can. They might help you narrow down what is going on. I hope you can get this figured out, so that you can have the very best treatments.

Annie

Hi, Thank you for your response! Yes, my ANA is always 1:80 but that is not high enough to concern them (neuro & rheum). I have been worried about myositis, no biopsy done just NCV and EMG's and labs. Within the past week my CK came back normal again as well as all my elecrolytes which are always very good. Waiting for the 2nd aldolase results. Neuro always wants to blame my issues on Hashimotos, my Endo disagrees with her completely. I can go on and on, but I won't waste your time!

Thank you for the response. I put some answers in above.

Thank you for your response!

I questioned my neuro last year about LEMS because I am able to lift weights still and have good strength in the gym. With MG people have progressive weakness upon exertion. She said no, it's not LEMS, that I have the strength from being on mestinon.

She is not denying mestinon, she is having me stop it for 4 weeks to see if the cramping subsides. I did 2 weeks at 60 mg day, 1 week at 30 mg day and yesterday was my first day off it completely. It's very difficult cutting back and now that I don't have any in my system I feel pretty weak. I will stay off until April 4th. If I have a breathing episode I will take it before then.

Even if she told me to stop the mestinon, I have 5 or 6 100 count bottles that do not expire for a couple years. I will continue to take it either way because it helps my weakness (vision, quads and upper arms and my breathing).

Hi: I am really quite unsophisticated when it come to the MG as I'm still laboring through diagnosis, but I can read you chapter and verse about the cramping. Every time I experience a really nasty episode with my feet (usually one or the other but sometimes both) it's a combination of two factors: lots of walking and lowered calcium intake. I try to get at least 1,000 mgs of calcium a day, but I truly hate champing the stuff down ('cause I can't swallow the capsules), particularly right at bedtime, which is the only time I can take it to prevent interactions with other medications. When I take it on an emergency basis, it usually takes about 20 minutes to be effective on a gradual basis. I also experience cramps in other muscles from time to time which are far worse than the foot cramps...has me shouting in pain. Calcium appears to work for them too...just not as fast as I would like. BTW, my mother (a nurse) discovered the calcium solution as she also had muscle cramps as did my grandparents...on both sides. I take care to try to get 100% calcium as I don't want to have to factor in the Vitamin D, Magnesium and Zinc that the manufacturers like to add. It's a cheap enough fix if it work for you.
Best,
Laurie