Long time, no write, huh. I finished up my contract and have been home since mid-Nov and I used to check these posts every day at work...I missed you guys.

Anyway, I gained my muscle biopsy results this month. The muscle fibers and structure are abnormal. The irregularity supports an underling myasthenic syndrome. They think it best resembles limb-girdle myasthenia gravis.

That's not my official diagnosis (yet) though because it's not a cookie cutter match. I am going to a UCLA neuro specialist in January to do some follow up testing to get an exact diagnosis.

I felt that was good news, since all my other prior tests were negative. We're this close to an answer (said while I pinch my fingers together like I'm holding a little marshmello).

It would make sense to me if it is limb-girdle MG because I have every symptom. My legs, arms and trunk get the most weak and all my major joints (shoulder, hips, pelvis) are loose. If that's the case then I'll be switch medication, which is probably a good idea because I seem to be having less success with the Mestinon.

I am still WAY better than if I didn't take it, but I've noticed an increase in flare ups. I am getting fatigued and weak faster then I was. Luckly right now I am off of work, so I've been able to rest whenever needed.

How are all of you doing?

Thanks for the update. It's really encouraging that they finally found some information! You say that your trunk (among other parts) is weak. Can you describe to me how you experience weakness in your trunk?

Thanks. I'm wondering because my neuro told me he's never seen an MG patient who walks like I do. I sway back and forth from the waist up, because whatever muscles hold the top half of you up, so you don't tilt from side to side--whatever muscles those are, mine are weak.

Abby

I'm glad your biopsy was diagnostic. Do you know if they did extra testing on your biopsy? I'm asking because I only had the basics done on mine. It showed a few abnormalities mainly muscle atrophy. Nothing pointed to MG, but we weren't looking for it at the time. I'm wondering if someone could have MG and it not show up on a biopsy?

Good luck with your treatment.

Glad to hear you're finally getting some answers! It's difficult when all your tests come back negative, but you know something is wrong. I haven't had a single positive test!! I'm glad my neuro is treating me based on symptoms alone.

Being fairly new to the MG thing I still have alot to learn. I've read about many forms, but you are the first person I've seen post about limb-girdle MG, now I'm off to gather more info!!! Most of my symptoms have been in my arms, legs and torso from the very start. I used to say to all the doctors and nurses I was weak from my neck to my knees.

Even on Mestinon I still have a great deal of weakness in those areas. I don't have to increase my activity that much for my muscles to fatigue, even washing a few dishes has become a major chore. If it turns out to be limb-girdle MG what type of treatment will you be placed on?

Good luck with you upcoming appointments, hope you get some more answers..

That's great that you have answers. I'm glad they did the biopsy well.

Would you mind clarifying something? Did they say you had a congenital myasthenic syndrome or that you have a variant of autoimmune MG that affects mainly the limb-girdle area. That's an important distinction, since treatment would depend on which one you have.

If you have CMS, then they could do the blood test to determine which genetic defect there is.

I hope you get a treatment plan in place soon.

Annie

they said the muscle supports CMS, but my neuro things it is auto immune since I didn't have any problems until I was 30. That's one of the major reasons for the follow up testing at UCLA. They might do another biopsy and will also do ultrasounds of the muscles and additional blood test. I call them tomorrow, so hopefully i'll get in soon. ( =

it'll be interesting to find out. from what i read, if it's CMS then it's a recessive gene (Chromosome 4p16.2; recessive) and treatment will be with a different medication called Ephedrine. Mestinon has shown to sometimes help people with this, but eventually begins to wear off. that must be what i am experiencing because even though i am drastically better than if i didn't have any medication, i am starting to see a decline in my progress. i'm having more flare ups. getting weaker more frequently and fatigue is off the charts.

like someone else said above, i get tired doing dishes. i take a nap after i take a shower cuz i'm exhausted. doing my hair...don't even think about it, that's only for special occassions! i can't keep my arms up long enough to do all that blow drying...LOL. it's funny because when i read the description of limb-girdle MG it says it worsens with exercise, which is true. but when i think about it, it seems like it worsens with any kind of movement. another thing i thought was interesting is that there are less than 70 diagnoses cases of this...looks like i may have won the neuromuscular disease lottery!

I asked the surgeon that same question and they said they were doing all kinds of tests on it. if it didn't show up as MG, then they'd proceed to see what it does look like. so extra testing was done.

abby,

when i say my trunk i mean my back, check, stomach and neck muscles. when i'm not on mestinon i have a hard time holding up my head for very long. even with mestinon my trunk gets tired. for example, sitting up straight is a chore. standing up for very long is hard too. until i got on my current dose of meds, i even got tired if i ate too much because i'd be exhaused from using the muscles/energy to digest food. weird huh.

i walk pretty normal. but when i get tired i start to fall to one side. i also tend to start to trip...i guess i'm not lifting my feet up all the way.

one other thing i learned about a year ago is that i have a loose pelvis. the muscles in my hips are highly mobile. they pop and crackle all the time and i get spasms in my periformus muscle (a big muscle under your butt muscle) because it's trying to hold my pelvis in place. likewise, my shoulders are highly mobile. i can easily move my shoulders in and out of its socket just by contracting my muscles in that area. (hee hee that's kind of been a "circus trick" of mine since i was a kid, but i guess now i know why it does that).

p.s. i think the muscles that keep you from swaying side to side are your core muscles. your abdomen, the side muscles, and lower back muscles.

There are literally over a hundred different CMS genetic mutations. Only TWO places in the United States run the specialized blood tests or do the specialized muscle biopsy (which can be dangerous to do): University of California at Davis and Mayo Clinic at Rochester, MN.

Please don't let them carve into you again until they run the blood tests. It's absolutely not necessary these days, especially if you have CMS. Depending upon your ancestry, they can narrow down what tests to run. Some run in certain ancestral lines.

You absolutely need a specialist on this one. Some CMS are autosomal recessive and some are dominant. Some patients have absolutely no acetylcholine, others have too little and others too much. If you don't define exactly which one it is, you can get worse with a treatment such as Quinidine Sulfate or Fluoxetine. Ephedrine is often not used due to the potentially adverse side effects. Oddly enough, tonic water can be useful. Do not try anything until your doctors have definitively figured out what is going on.

http://neuromuscular.wustl.edu/synmg.html

http://www.ucdmc.ucdavis.edu/neurolo...y/maselli.html

Age does NOT define whether you have CMS or MG. Some CMS have later onset or adult-onset. I had MG since birth, even though it's more common to have a CMS since birth.

What you are describing as far as where your weakness is doesn't exactly fit "limb girdle." Again, I think you need a specialist at this point.

The best way to diagnose MG or CMS or LEMS is by THINKING. And a good clinical exam followed up by testing. Doing more than one muscle biopsy is crazy unless absolutely necessary. If I were you, I'd ask if they are going to send your blood off to UC-Davis. If it turns out that you have CMS, ask to be referred there for a definitive diagnosis.

I'm sorry if I'm being harsh but figuring out if this is MG or what particular CMS is very important. Your treatment, and life, will depend upon them knowing exactly what is going on. I hope you do find answers.

Annie

Thanks Annie. I go to UCLA next Tuesday and will see what the next steps are and keep y'all posted.