SFEMG Results--Does this mean I have MG??
 

The acetylocholine receptor antibody test was negative for binding, blocking, and modulating antibodies. I just got the report for the SFEMG and EMG tests done at Duke last week. This is what they said:

SFEMG: Single fiber EMG was performed of the left frontalis
muscle. 20 fiber pairs were examined with a mean MCD of 30 usec
(ref < 30 usec); median MCD was 29 usec (ref < 30 usec). 5 % of
fiber pairs demonstrated increased jitter without blocking and
the remaining 95 % were normal. SFEMG of the left frontalis
muscle was normal. [emphasis added]

I think I read somewhere that if 2% or more of the fiber pairs showed jitter, then you had MG, but I can't remember where I read it.

If anyone else has had SFEMG, could you please comment on these results?

They also did regular EMG testing and there were some abnormalities:

EMG: Needle EMG of selected muscle of the left arm and leg and
paraspinals is remarkable for a clear population of short
duration, polyphasic motor unit potentials with multiple thin
spikes worse in the upper extremity and C8-T1 paraspinal. [emphasis added]

Has anyone else had this type of EMG test result? Any idea what it could mean?

Their conclusion was that it was an abnormal study, but they blamed it on the 20 mg of hydrocortisone I take for adrenal failure. I plan to get a second opinion, because I disagree with their conclusions, but I wanted to see what you guys thought. Any ideas or suggestions are welcome.

Thanks.

Rose

Hi, Rose.

It's when there are 10% or greater pairs in a SFEMG that doctors consider it to be positive for MG.

http://emedicine.medscape.com/article/1832855-overview

Are your doctors thinking you have a steroid myopathy?

The irony of that kind of thinking is that Hydrocortisone IS a steroid. Steroids reduce or erase any signs of MG or other autoimmune diseases. It doesn't matter if you're on 5 mg. or 50 mg., that's what the drug does.

You could call Dr. James Howard at UNC and see if he has any consultation appointments. He's the main MG expert there. He's hard to get into to see as well. They all are.

The fact that Dr. Massey did not order the blood tests strikes me as very odd. You can't really rule out MG in your situation (due to the steroid) without extra testing.

I think that a second opinion is in order. MG is a clinical diagnosis that's backed up with tests. Maybe you don't have MG. Maybe you have an inflammatory disease. But they can't really say for sure one way or another without further investigation.

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2504120/

You can't go off of that drug without serious consequences, as you well know. So the doctors are going to have to doctor outside of the algorithmic box here.

Other things you could do is to see a neuro-ophthalmologist if you have ptosis (drooping eyelids or eyebrows). Do you? Some N-Os will do the Tensilon test.

If you are short of breath, you could see a pulmonologist to assess what the possible cause of that is. MIP and MEP breathing tests would need to be done, for they are more specific to neuromuscular diseases.

Please don't get frustrated. It won't help YOU.

It was Dr. Howard who said at a conference in 2004 that it takes an average of one year for a man to be diagnosed with MG, but that it takes SEVEN for a woman to be! Sexism is alive and well in medicine. And your weight does NOT cause muscle weakness that is FATIGABLE! If you have fatigable muscle weakness, only LEMS, MG, or a CMS causes that! Duh, doctors.

So take a step back, maybe a deep breath, and take an analytical approach to getting some help. You can always scream or cry later. ;) We all have.

Hang in there!

Annie

Hi, Annie. Thanks for the clarification on the SFEMG. I am trying not to get frustrated, but I have been trying to get diagnosed for 40 years! Hard to stay hopeful after that many dismissive, uncaring, condescending, snarky "you just need to lose weight and exercise" responses, from so many useless doctors I've lost count! I didn't expect to get that from Dr. Massey, but she just added herself to the list.

You're right, she is blaming it on the hydrocortisone. The problem is that I have had the muscle weakness and fatigue since I was 12 (or younger) and I only was diagnosed with the adrenal failure in 2011. I was not the only one that was surprised she didn't order any blood tests--so was the Endo that referred me to her. My PCP ordered the Ach Receptor Antibody tests, but that didn't help since it's negative.

While Dr. Massey was doing the SFEMG, she asked me if I had ever had botox injections in my forehead. Then when she was doing the EMG, she asked if I took cholesterol medication. When they were doing the nerve conduction study, her Fellow asked if I had diabetes. So clearly, they were seeing something abnormal on the monitor. I just think she didn't want to be bothered.

I decided this evening that I am going to ask my PCP to refer me to Dr. Howard for a consultation, so your suggestion is just confirmation that he's a good option. The Endo at Duke is saying she doesn't know what else she can do for me, and NO WAY is she going to volunteer or agree to a referral to their arch-rival, UNC. Luckily, my PCP believes there is something wrong.

The only ace up my sleeve is a cardiopulmonary stress test that I had done back in 2002, which I flunked, when I was being evaluated for Chronic Fatigue Syndrome. After baseline levels were recorded, I was told to ride the bicycle at maximum effort for as long as I could. I rode the bicycle until I was drenched in sweat and my leg muscles gave out, which was at about the 6 minute mark.

Six minutes! I hit anaerobic threshold before 5 minutes. They had to help me stagger over to the table to take my core body temperature again, because my leg muscles would not support me. My core body temperature only went up half a degree (normal is one to two degrees). I had to lie there for a long time before I could get up and leave the test room and I was completely exhausted for days afterwards. That's how exercise has always affected me.

Their conclusion was that I did not meet the criteria for CFS, that there was a metabolic cause for the results, which they said were all abnormal, and that it was NOT due to deconditioning. At the time, they said it was a 25% whole-person impairment, and that was before I got so bad I couldn't work full-time. It's gotten a lot worse since then. Now I have the data from the EMG tests to add to that evidence. Some day, I will find a doctor that likes puzzles and is willing to figure it out.

The muscle weakness doesn't improve with exercise, so I think we can rule out LEMS. I don't have ptosis and never have, but one eyebrow is always higher than the other, and it's the only eyebrow that goes up when I try to raise my eyebrows. The other one just sort of twitches. Does that count? :p

I have shortness of breath if I do much of anything, which I never used to have, and now I also run out of breath before I finish a sentence, which never used to happen. You know how when you sing songs, you know where to breathe to get through the words to the end of the phrase? Well, now I have to breathe half-way there--I can take in the same amount of air, but it doesn't last as long. I don't have asthma or bronchitis, and I don't wheeze, but I have a chronic cough that I never used to have.

Worrisome signs that something is going on, but I don't know what. Maybe I need to find a pulmonologist too. I know I don't have the typical symptoms of MG, but I have enough that someone needs to pay attention. There is something wrong.

Anyway, thanks for listening. If you can tell me any other specific blood tests or other tests that I should ask for, that would help, because my PCP wants to help but doesn't know what tests to order--and neither do I.

Thanks again.

Rose

Rose,

If you get in to see Dr. Howard, he can order pulmonolgy function tests. It's best to try to find a pulmonologist closest to where you live, though. Then they can follow you if you become worse.

Try taking photos of your face in the morning and then later in the day or after you do an activity.

I didn't notice until I was 41 that I had ptosis. When I looked back at all of my photos, I realized that it was there since about birth. I was misdiagnosed at age ten with lazy eye. I guess that day, my right eye was more droopy than the left!

So I "get" the having something a long time and not knowing what it is. I always adapted my activities accordingly and always had a stamina problem.

I think it's pretty sad that doctors see each other as "competition" or "opponents." They really need to start having a team mentality. The goal is not a "goal," but helping a patient—no matter what that takes.

Twitching is also a sign of muscle weakness. It's fatigable weakness that is the hallmark of MG, though.

It doesn't hurt to check your TSH, Vitamin D and B12. Thyroid disorders are common, as are those two vitamin deficiencies. If you have a deficiency, they still can't say, "See, that's what's wrong with you," because neither deficiency causes fatigable muscle weakness. ;)

I'm assuming that your heart checked out during that cardiopulmonary test, is that correct?

Sometimes it takes more than one doctor to figure all of this out. I hope you'll be okay in the meantime. If you do get to a point where you can't move or breathe well, or can't swallow, then get to an ER. Dialing 911 is best. If you have MG, it can tank pretty quickly, especially in hot weather!

Annie

Annie, maybe you can help. What is fatigability in muscles? Can it only be seen with a SFEMG or EMG?

The MG Expert here in the Netherlands has declared that I do not have a Myasthenia, because the blood tests were negative, and I don't have a clear ptosis. I do have Vit D deficiency, which they are suggesting is the reason for my muscle weakness.

But one of the other physical tests that the neuro did was to push against resistance, which I tried my best to do. But after a few seconds my "effort" failed completely. To my simple mind that would be fatigability, but apparently the reverse is true, according to the neuro.

Hi, Annie,

Yes, my heart checked out okay, and at the time, I wasn't having trouble with running out of air. I will take those test results to the pulmonologist, so he has something to compare with any new testing he does.

I take vitamin D3, because I avoid sunlight whenever possible. I have about a 10-minute sun tolerance before I burn, and I've had too many bad sunburns as a kid. Trying to avoid melanoma.

I take Armour Thyroid, because I have pituitary failure (it is useless to check TSH) and the thyroid has stopped working as a result. Same reason why I have adrenal failure. The fatigue issues have been blamed on my endocrine problems, but the Duke Endo says she thinks the hormonal issues are being adequately addressed now, and the fatigue is just as profound as it always was. That, plus the muscle weakness, is what's making me think MG.

I will ask them to check my B-12 levels on the next blood draw. They've checked them before and said they were fine, but it never hurts to check again.

Thanks for the suggestions.

Rose

Hi, Juliejayne,

Fatigable muscle weakness is just what you described. You use the muscles, and at first you can do whatever, but the longer you do it, the weaker the muscles get, until you can't do it anymore. I have that too. Walking, vacuuming, sweeping, scrubbing, stirring. Have to stop and rest the muscles after about 2-3 minutes. No strength. Even something like making the bed is hard for me. By the time I get to the fourth corner, I can't lift the mattress to put the fitted sheet over it.

But I also have trouble opening doors if they are heavy, or carrying anything that weighs more than about 15 pounds. So there is muscle weakness as well as fatigability. I suspect some of the doctors think we are faking it, or just not trying very hard.

I hope you can get a diagnosis soon.

Rose

Rose,

When they check your B12, make sure that you get the actual number!!!

The "normal" range can be very deceptive. If you have any symptoms of a B12 deficiency, that should be what guides you when looking at those numbers and deciding if you need B12 (methylcobalamin).

Any further reports?

Annie

Still in Limbo
 

Hi, Annie,

My primary care doctor has ordered blood tests for B-12, and folic acid levels inside the RBCs. She also referred me to Dr. Howard at UNC-Chapel Hill for a thorough evaluation. I have no idea how long it will take to get in to see him.

I always get copies of all my test results, and I'll let you know what the B-12 levels are.

I also saw my usual neurologist today, whom I've been seeing since 2000, and he agreed that the EMG, etc. from Duke was abnormal, but says there's no way to determine why my muscles are weak. (Really. :rolleyes:) When I asked if they could test different drugs, he said the side effects are really dangerous, and some of them can cause cancer. (Translate that as: I don't want to do any more work than I have to--just live with it.) He wants to see me again in six months. (I don't know why--maybe to see if I'm still alive?)

I'm completely exhausted, and very frustrated. Let's hope Dr. Howard actually is as good as his reputation. I don't know what I'll do if he pats me on the head as well.

I might have to start looking for places to hide bodies! :p

Rose

Rose, I've seen Dr. Howard. Yes, he's as good as his rep.

I'm not sure he's tall enough to pat you on the head. ;)

Seriously, though, since you already have an abnormal EMG, he might be able to get you in sooner. MG is a clinical diagnosis that is backed up with tests. He's been around long enough to train other MG experts who are highly regarded as well (Dr. Weiss in St. Pete, FL).

I hope you don't have to wait long. School hasn't started yet there (he teaches, too), so maybe he'll have some time now.

Annie

I'm so glad you liked Dr. Howard, Annie. Thanks for the encouragement.

UNCG classes start on the 17th, so I only have next week to get ready for the semester. I was hoping I would have answers by now. I hate to miss classes so I can go to the doctor, but I might not have a choice. I guess I'll have to tell my professors if it comes to that.

I did what you suggested, and took pictures of my face. My right eyebrow is more than half an inch below the level of my left eyebrow, and my right upper lid (from the crease to the eyebrow) looks puffy and completely covers the lower lid, but the eyelid itself doesn't drop over my iris. The upper lid on the left eye does not look puffy, and the lower lid is visible almost back to the crease. There is no difference at the beginning or end of the day--the droop is the same.

They don't look the same at all, and they sure don't look like they both belong on the same face. Good thing my glasses hide it fairly well. Sure looks weird.

Rose

A little update
 

Well, I was wrong. I've been tracking the changes to my eyelids, and by the end of the day, both eyes have the same amount of droop. So the left side starts out normal, but by the evening, it's just as bad as the right side. I've taken pictures, so I can show Dr. Howard. Still waiting on the referral to him.

The B12 was 572 (range is 211-911) and the RBC Folate was 580 (range is >280). So they seem to be normal.

I got the physical therapy notes from 2006 from my neurologist. The results are VERY interesting.

After one month of physical therapy, the functional testing revealed:

• Walking 3 minutes causes stumbling due to fatigue.
• Standing 15 minutes with feeling of legs giving out.
• Fatigue of the lower extremities with 3 minutes upon treadmill test, and fatigue with 3 minutes and 50 seconds on the bike.

After another month of physical therapy, the functional testing revealed:

• Walking 5 minutes causes stumbling due to fatigue.
• Standing 12 to 15 minutes with feeling of legs giving out.
• Fatigue of lower extremities with 4 minutes upon treadmill test, and fatigue with 3 minutes and 10 seconds on bike.

The prognosis says that "the patient has met maximum functional independence at this time. The patient shows strength to be good and to be within functional limits upon one repetition of maximum strength; however, upon repetition, the patient continues to fatigue."

Now, you would think that the neurologist would have run some tests to try to figure out why my muscles were so fatigued, but he didn't. When I saw him last week, he continues to say that he thinks the problems are all hormonal, although he agreed that all of the muscle testing the doctor did at Duke was abnormal (SFEMG, regular EMG, Nerve conduction).

I can only shake my head. The evidence is right in front of him, but because I don't have classic ptosis, he refuses to consider that I have MG.:icon_sad:

So now I have this evidence, plus the pictures of my eyes, plus the cardiopulmonary stress test that I flunked, plus the Duke endo saying the muscle weakness and fatigue is NOT hormonal and NOT because I take physiological doses of replacement cortisol.

I sure hope Dr. Howard can figure this out.

Rose

Latest twist
 

I finally got a call back from Dr. Howard's scheduler, and she says he's making appointments for 18 to 24 months from now. Yikes! I will go on the list, but I hope I can find someone else that can see me sooner.

While I wait to see him, I went to the Winston-Salem MG support group meeting and asked them if they could give me the names of any doctors in the WS area that might be able to diagnose me. I also called the Greensboro MDA office, and they gave me the names of two doctors at Wake Forest Baptist Health in Winston Salem, which were also names that the support group people had given me.

I tried to make an appointment with the doctors at WFBH, and they said I needed to fax my records and the clinic manager would review them and determine who I needed to see. She called me back today and said that she had reviewed the information I sent her with one of their doctors and that they didn't think they could help me and "they didn't want to waste my time." What does that mean!! Doctor speak for we don't want to waste our time?

On further questioning, she said they could only do the EMG etc. tests again, and if they got the same results that Duke got, then I would be unhappy with them as well. I said I wouldn't be unhappy if they got the same results because it would mean they were valid, but maybe I would be able to find out why I have "non-disfiguring myopathy" (the diagnosis the Duke doctor gave me). She wouldn't budge. Just said I needed to go back to Duke or try UNC-Chapel Hill (2 year wait-see above) or Vanderbilt (my insurance is only good in NC, can't go there).

I am trying to make an appointment with the other doctor that the support group recommended. I have a call in to Dr. Edward Hill with Salem Neurology--waiting to hear back from his scheduler. I've been waiting nearly a week already, no call back.

At this point, I am starting to feel hopeless. What do I do next? Should I go to a neuro-opthalmologist? A pulmonologist? Maybe they can refer me to a neurologist that will take me seriously?

I am so tired of being patted on the head and told to go away. Do I have to be dead before someone will try to figure this out?

If you have double vision I highly recommend a neuro-ophthalmologist. A neuro-ophthalmologist gave me my first DX.
Mike

And I would also recommend a pulmonologist (in addition to what Mike said). Use as many specialists as you can to narrow this down. When you see a pulmonologist, make sure you ask for MIP and MEP to be done. If you can get into UNC to have that done, that would be best. They "get" MG and what to look for.

I'm really sorry you are getting the runaround. So many of us have.

Your B12 is not that great. It certainly couldn't hurt to take some daily (methylcobalamin).

Fatigable muscles are never normal.

Non-disfiguring myopathy?! Seriously?

http://www.clevelandclinicmeded.com/...hy/Default.htm

There are many MDA Directors around the country. Dr. Allan Weiss at the St. Petersburg Neurology Clinic is one of them. They often have "free" exam days, or MDA Clinic days. It's at least worth a call to a director in your area.

https://www.mda.org/clinic/universit...lina-hospitals

Why don't you see if Dr. Chahin or Dr. Karam can see you at UNC?

The reason that it takes so long to see Dr. Howard is that SFEMGs take 1 - 2 hours to perform and an additional 2 hours to evaluate.

Just keep trying to seek out help. And take it as easy as you can!

Annie

Hi, Mike,

I don't have double vision (like 2 of each letter), but when I get tired, my eyes won't focus properly, so everything is blurry. And after I read for a while, one eye tracks on one line, and the other eye tracks on the line below it.

So I guess it is double vision, sort of, and not all the time.

Kind of hard to read that way...:rolleyes:

Rose

The Plan
 

Annie, thank you for your suggestions and responses to my posts. You are so amazingly helpful to everyone on this board. Thank you for the links and the feedback, and most especially, for the encouragement you give everyone. I hope you are feeling better--I read one of your posts that said you had had a rough time of it lately.:hug:

I talked to my primary doctor today for about an hour. I am going to call and find out what the wait time is to see either Dr. Chahin or Dr. Karam. If they can see me sooner, I will let her know and she will do a referral to one of them. I am also going to try to find out the name of a pulmonologist at UNC, and she is willing to refer me there as well. So we'll approach it from two directions.

We also discussed the fact that my temperature doesn't go up when I exercise. My physiology professor at UNCG (a PhD) said that indicates there is a problem with the mitochondria, which would also cause a lack of energy in the muscles. My primary has a patient with a mitochondrial disorder that is so rare, there are only six people in the entire WORLD who have been diagnosed with it. I don't remember the name of the enzyme that is defective in this patient, but she was diagnosed at Cleveland Clinic as a kid.

I think I should contact the United Mitochondrial Disease Foundation and see if they know of any doctors in NC who see adult patients. My primary will refer me if I can find out a name. Maybe there is someone who specializes in muscle disorders specifically, since we've pretty well determined that the problem is with the muscles, not the nerves. We just don't know if it's MG, or a glycogen storage disorder, or a mitochondrial disorder, or something else. I don't know what that kind of doctor would be called. Do you?

I am going to ask my insurance company if they cover treatment outside of NC, in case I need to go to someplace like Mayo or Cleveland clinic. I think I would have to pay the bill out of my own pocket if I went elsewhere (which means I couldn't go), but it doesn't hurt to ask. I will also ask if they cover muscle biopsies, but I have heard they can cost $10K or more, and I don't really want one unless there is no other way to determine the problem.

I will still try to get in to see Dr. Hill at Salem Neurology, in case he can diagnose me sooner. I can always cancel the other appointments if Dr. Hill can figure it out.

So that's the plan. I'll post more when I know more. Any ideas welcome, and thanks in advance.

Rose

You're welcome. Always glad to help.

You don't want to see too many neurologists. They'll then accuse you of "doctor hopping." ;)

Try to see someone at UNC first. They can do a muscle biopsy there, if necessary.

Temps do NOT go up when healthy people exercise. I don't know who gave you that incorrect info. It's when temperatures are not able to be regulated that it is then an issue, often autonomic, sometimes endocrine. Do you sweat normally?

Don't push an agenda. I mean, don't tell any doctor what you think you have. They hate that! :cool: They'll be thinking, "How dare she think she knows more than I do!"

You do, in fact, probably have double vision. If your eyes are not focusing correctly, that will often mean muscle weakness. And if that fluctuates, well, that's indicative of MG. That's why a neuro-ophthalmologist would be so helpful. They have special tests they can do (visual tests) that show what's going on. They'll also try to fatigue your eyelids and then test afterwards.

Don't get the cart before the mito horse! The same doctors who diagnose MG are the ones who look for any mito disorders. Yes, there are specialists at Cleveland Clinic and Mayo, BUT they are the same exact neuromuscular specialists who work with MG patients. Your best bet is to deal with someone local (UNC) first.

My muscle biopsy was completely paid for by insurance.

Find out if Salem neurology can do SFEMGs or muscle biopsies. Usually it's only larger clinics such as UNC. Why go to Salem and then have to go to UNC after all? You might still need to bounced all over afterwards.

I'm not saying any of this to upset you, but I've gone the circle jerk route with neuros. It's not helpful and usually ends up hurting your care in the long run.

You might not have MG, but you might. What bugs me about the Duke nonsense is that they gave you a label—which wasn't at all scientific—because they couldn't be bothered with figuring out exactly what's going on AND finding a treatment for it.

Whatever you do, don't bad mouth any other neuros. Curse of healthcare death after that!

I hope someone out there will have an "aha" moment for you!

Annie

Okay, here's the latest
 

I made an appointment with Dr. Hill at Salem Neurology while I waited for the referral to Dr. Howard at UNC to get through the process. He does SFEMG testing, so I figured if Dr. Hill couldn't figure it out, then I could always go to Dr. Howard in a year or two, whenever I could get in to see him. I'm glad I did that, because I got a call on Friday afternoon that Dr. Howard has reviewed the records my PCP sent him, and he doesn't feel like he can help me. So, no appointment at UNC. I am sad, but not surprised.

Fortunately, I saw Dr. Hill on Thursday afternoon. He listened, he took me seriously, he asked good questions, and he is willing to do tests to try to figure out what is going on. He said Dr. Massey at Duke is "phenomenal" and he trusts her test results, but he agreed that the label of "non-disfiguring myopathy" doesn't really tell me what I'm dealing with. I told him I am at the point that I need to get an electric scooter, but I don't have a diagnosis that will make the insurance pay for it. He gets it.

He said the diagnosis of myopathy narrows the focus considerably, and eliminates a lot of other things, like nerve issues such as MS or ALS. He doesn't think I have MG, but he said it's a diagnosis of elimination. He thinks I might have either late onset muscular dystrophy or non-syndromic congenital muscular dystrophy. He also said I have a very complicated case, since I have so many other things that are wrong, but he didn't say he couldn't help me. Halleleujah!!

I am scheduled for a nerve conduction study on both legs next Friday, and he wants to order a bunch of blood tests for both versions of MD, as well as Peroxisomal Disorders. If those are negative, then he wants to do a muscle biopsy to check for mitochondrial disorders or glycogen storage disorders. If those are negative, then he may circle back to MG as a possibility. Whew! That's a lot to take in.

He said he wants me to read about the various forms that MD can take, and see which versions match my symptoms the best, because I know my symptoms way better than he does. That will narrow down the list of blood tests that he might order, and make it more likely that we are testing for things that might have positive results. I like the idea, because from the little bit of reading I have been able to do on MD, there are lots of ways it can manifest.

If I have MD, the most likely version is limb-girdle MD, since my thigh muscles are so weak I can barely lift my legs to put on my pants or my tennis shoes when I get dressed. There are a couple of other versions that might be worth checking as well. Some of them also affect respiratory muscles, and there is even one that affects eye muscles. So it's a reasonable possibility that should be excluded, since there are actually diagnostic DNA tests for it.

I didn't mean to write a book here, but I thought it was worth going into a bit of detail about the variety of versions, since some of you are still trying to get diagnosed, and I don't know if you have been tested for MD. Here's a good link for more info: http://www.cinrgresearch.org/aboutnd/diseases.cfm

At any rate, I'll keep you posted on what develops. If any of you have been down the "maybe it's MD" road, I would like to hear about your experiences and the tests they did. Also, if any of you can think of specific questions I should ask him, please post them.

Thanks in advance!

Rose