[WildIrish]

It's been a while since my last post in September, so I thought I'd update you on where things stand. Dr. Hill did an EMG as well as a nerve conduction study in September. Nerve conduction was normal, but there were a lot of popping and crackling sounds when he did the EMG on my thighs. Not supposed to have any noise, and it sounded like a radio picking up static instead of a station.

Since then, we've done a dried blood spot test for Pompe disease (glycogen storage disease type 2) and the enzymes are smack in the middle of the normal range. That pretty much rules out Pompe. We've also tested for late-onset Limb Girdle Muscular Dystrophy (which I had never heard of) and 2 out of the 22 genes we tested came back with heterozygous mutations. The two genes are TTN (Titin) and PLEC (plectin), which has several sub-types.

One of the plectin subtypes can cause congenital myasthenic syndrome, so Dr. Hill decided to do a 30-day trial of Mestinon to see if it helped my muscle weakness. It doesn't. It makes my heart pound and gives me high blood pressure about half an hour after I take it, but other than that, I can't tell any difference in the fatigue or muscle weakness.

One of the other plectin subtypes can affect the shape and structure of the mitochondria, which affects its ability to function properly. So it is possible that the two mutations may completely explain the muscle weakness (titin mutation) and the muscle fatigue (plectin mutation).

The only way to know for sure is to do a muscle biopsy to see what the structure of the muscle tissue looks like, and to see if the mitochondria are shaped normally and in the right places. There may be other abnormalities that would indicate other genetic mutations, and if so, we will do more genetic testing.

I think the possibility of it being MG is fading into the twilight. My muscle weakness is progressively getting worse, especially the past two years. All of my symptoms are explained by LGMD. The muscles that are most affected are the core trunk muscles and the muscles in my neck, shoulders, upper arms, pelvis, and upper legs. My diaphragm is also being affected significantly.

I finally have an appointment with a pulmonologist for an evaluation at the end of January. I am trying to get that done before they do the muscle biopsy, because the idea of anesthesia when we don't know my lung function status makes me really nervous. Call me crazy.

I just thought I would post again because some of the muscular dystrophies can cause ptosis and affect bulbar muscles, and some of them affect distal muscles (lower leg and foot, and lower arms/hands). Since some of the posters on this forum have these symptoms but not a diagnosis, it might be worth testing for these other types of MD. At the very least, they should be ruled out.

I must say, Dr. Hill has been the kindest, most thoughtful, most willing doctor I have worked with in a long time. He believes me, he understands the need to have a diagnosis, and he is willing to order whatever tests we need in order to make that happen. He is willing to partner with me, he makes recommendations and we have a discussion about options, and then he orders the tests. He answers my questions, he asks my opinion, he listens when I tell him things, and he takes however much time he needs to take with me. The great thing is, he does the same thing with each of his patients. They don't make doctors like him anymore.

I will post again after the biopsy and let you know if we found anything that takes us back in the direction of MG.

Rose

[bny806]

I'm so sorry you have had to go through any and all of that! hoping you find some answers soon, and I'm glad that you at least have a great doctor, which is SOOO hard to find and has to make it all at least a touch easier to go through the process. My thoughts are with you

[mj]

Interesting to hear this. I recently met with my Neuro who has decided to investigate for a Mitochondrial Myopathy as MG is looking less likely. I think I prefer the MG. have you started any treatments? What a long road this is. You are truly fortunate to have found such a caring doc.

[WildIrish]

Hi, MJ,

There are no treatments for MD that I know of. We are still trying to nail down a definite diagnosis, but I saw the Neuro tonight, and he said he is pretty sure it is LGMD. My appointment for the surgical consult is next Friday.

I was hoping it would be MG or Pompe, because at least there are treatments, but that's kind of like hoping you break one leg instead of the other.

Now it's more waiting for results, and then trying to figure out how to pick up the pieces.

[AnnieB3]

That's so great that you have a doctor who is taking you seriously!

There are some congenital myasthenic syndromes where there is too much acetylcholine. That's an interesting reaction you had to Mestinon, which made me think of that.

Not that I think taking Atropine or Quinidine is a good idea if they don't know for sure what's going on, but are they sure you don't have one of the slow channel syndromes?

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

Did they look for a R-CMAP (repetitive compound muscle action potential) signal on an RNS? Some doctors miss that.

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2924514/

I really hope you don't have something that makes you worse over time. They are doing far more research now into the mito disorders, and there is cross-over with MG in some people.

At least make absolutely certain of the diagnosis, so that you can have the right treatment!

Annie