Hello

I'm in the middle of being worked up for "something neurological." My symptoms are:

Double vision (4th nerve palsy)
Trouble breathing
Trouble swallowing
Muscle weakness
Muscle cramps
Severe fatigue
Complete loss of appetite

Tests:
Single fiber EMG-- normal
Pulmonary function test (done 3 times)-- 28%, 55%, 75%
Pulmonary stress test-- showed sudden drop in O2 with no apparent cause
CPK-- 2000
Aldolase-- 14.9
Acetylcholine receptor antibodies-- negative

My first neurologist specialized in MS, but that's been ruled out by a clean MRI. He believes I have MG so he's referred me to a second neurologist who handles patients with muscular diseases. I'm also being worked up by rheumatology but my autoimmune panels have all been negative.

So here's where I'm confused-- everything I read suggests that CPK isn't elevated with MG. Does anyone have experience with getting an MG diagnosis and elevated CPK? Thanks!

Oops, my mistake. I didn't have a single fiber EMG, just the standard one. They're already planning to order another one because my rheumatologist is certain there ought to be something.

Hi, ArtandIron. Welcome!

I'm really surprised that the rheumatologist didn't think of polymyositis. Or didn't that doctor know about the elevated CPK? You're right; it's not elevated in MG.

http://emedicine.medscape.com/article/335925-workup

Which pulmonary function test are you referring to with those numbers? Did they do MIP or MEP on you (specific to neuromuscular diseases)? And is that the order in which they occurred, getting better each time?

You might also have more than one thing going on. Did they check any basic levels, such as thyroid, B12, Vitamin D, etc.? Why did they think MS? Do you have peripheral neuropathies in your feet, hands, or face? If so, get that B12 checked right away, and don't accept that 400, for example, is normal. It's not, especially when you have symptoms!

When was the last time you had an ECG (12-lead of the heart) done? Have you had an echocardiogram done?

Does your weakness fluctuate? Does it get worse with activities and better with rest? Fatigable muscle weakness is the hallmark of MG.

It's good for you to see a neurologist to at least rule some things out. Hopefully between them and the rheumatologist, you can get some answers!

Annie

I agree with Annie - with an elevated CK and adolase that points to a myopathy , like polymyositis, which could account for all those symptoms you listed.. Did they do a muscle biopsy? have they tried steriods or anything yet?? good luck!

Hi Annie. Thanks for responding!

I'll try to answer as many questions as I can but I admit I haven't quite wrapped my brain around all the tests yet. Also I have preexisting fibromyalgia so that complicates things a bit.

The rheumatologist does not think MG, she thinks MS. Pretty much all of my doctors have suggested MS except the MS specialist. He said it's possible to have MS with a clean MRI, but it's not possible to have MS, have the symptoms I have, and have a clean MRI. Also in my exam he said I was showing signs of muscle weakness but not signs that there's something wrong with my brain.

The rheumatologist does know about the elevated CPK since it came back on her panel of tests. She is now listing "myositis" on my chart under "diagnosis" but she still wants the neuro workup because all of my autoimmune tests have been negative.

The three pulmonary function tests occurred in that order. I don't know specifically what kind of tests they ran but I doubt they did anything specific to neuro diseases. Pulmonary was my first stop on my mission to see every specialty in the hospital and they didn't know what they were looking for then. The first one was done by my GP at the local Navy clinic. The second one was done there a couple of weeks later when an inhaler failed to make significant difference. The third was done at the Naval Hospital. It's possible that the third was the most accurate (the test seemed more involved) but anecdotally I did feel as if it was gradually improving.

They did a full metabolic panel several times. Thyroid etc is fine. They said no nutritional deficiencies and they check my Vit D with regularity because of the fibro aches and pains. I don't have the tests so I don't know how they came back exactly, just that they were within normal limits. I have a tiny bit of tingling in my feet sometimes, but I've always had it with the fibro. There's none in my hands or face and it's been going on for . . . 13 years? So no one is really considering that a symptom of this latest mystery.

I had an ECG at the ER when the breathing trouble started. That and the echo were normal.

The symptoms are all better first thing in the morning. It seems that every new symptom I've had has followed this pattern-- I get really stressed/tired/overworked. The symptom hits suddenly and with some severity. Over time, with rest and lots of time in bed, it gradually improves. Day to day I notice that I wake up with almost no symptoms-- vision normal, able to eat normally, etc. Then as the day progresses the symptoms get worse.

They haven't tried any treatment yet but my GP gave me prednisone when I told him it felt like my throat was swelling shut (that's how the weakness felt to me at first) and it seemed to help. Whether that was real or placebo effect I don't know.

They're planning to do a biopsy but it hasn't been scheduled yet. Also a second EMG I think. The repetitive one maybe. They haven't tried any treatments yet but the prednisone my doctor gave me in the beginning for my throat seemed to help. We thought that might be an allergic reaction at the time because it felt as if it was closing up.

I'd like to suggest two things:

1) get the test results for the B12... lab ranges go down very low and labs continue to report the low values as "normal"... some doctors (but not all doctors) know now to go by the numbers, not the ranges.
You should be at least at 400pg/ml or above. If below that then you need to supplement with active methylcobalamin daily.

2) this is pretty obvious, but are you on a statin for cholesterol?
Statins raise CPK.

I'm not on statins.

I'll ask about the B12 but would that explain the elevated muscle enzymes?

It sounded from my talk with the rheumatologist like the elevated muscle enzymes meant that there was definitely some kind of muscle disease, especially given that the CPK was so high.

Still, I'll definitely ask when I go in.

No, a low B12 would not explain the CPK.