Originally Posted by AnnieB3

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? No lupus, I've always had ANA 1:80 rheum says that's too low for lupus. Rheum dx includes undiff. connective tissue disease. I've also had sero negative sjogrens & fibromyalgia for over 20 years.
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. I asked my endo to order the CK because I was concerned I may have myositis. He ordered it and it was 2400. I had not lifted weights for 8 days prior to the test and I have significantly cut back on the amount of weight (in #'s) that I lift ever since the high result. I think that is why the CK has gone down. I've been lifting weights almost 30 yrs now and I wonder if I was hurting myself doing it because I have a muscle disease.
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. Diplopia at least for past 15 years. Also, my eyes felt weak and ptosis both eyes (alternating), positive ice pack test since the beginning of 2011. Mestinon helps the weakness, some of the double vision and ptosis. Not completely though.
Is the hair loss on your head? Eyebrows? Has it been termed alopecia, or has a cause been found? Derm said it was telogen effluvium, Endo said it was from a generic thyroid med formulation change. He put me on name brand in Sept and very slowly it's stopping. The loss started almost a year ago.
Have you had your vitamin D3 and B12 checked? Yes, they are always normal.
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?Always morning fasting between 8-9 am because they also monitor my cortisol. I have hypercortisolism and hyperinsulemia. I get labs (both blood and 24 hr urine) more than 6x year.
Have you spoken to a cardiologist about peripheral artery disease? No, but I have a vascular surgeon that monitors my aberrant subclavian artery. When I got the chilblains, rheum referred me to get a vascular ultrasound to test Reynauds, my father has it. I have been putting that test off.

Has anyone done a celiac disease antibody panel? Multiple tests negative. Sister is positive.
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. I blame it all on autoimmune issues. I just want to know what it is and how to fix it so I can try to live as normal of life as possible.
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've had asthma my entire life (I'm in my 40's). PFT's at Dr. are always normal. At home my peak flow has been down to 250, normally around 400. I do not think they have ever tested MIP MEP - I will have to research that.
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. I agree with you.
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. The problem is I have a lot of specialists (I am regularly seen by Endo, Neuro, Rheum, Gastro/Liver, Neph/Kidney, Vascular Surgeon/Heart). Each Dr blames the other for what I have, Neuro blames my thyroid, Heart says my MG causes most of my dysphagia, not the aberrant artery, etc. My Endo is my best Dr and he has always helped me out. I am thinking about getting a second opinion at UCLA. They can review all my records prior to my visit and see it from the outside.
Annie

Originally Posted by HDJJ

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.