[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