Hi JC! We don't know yet if we have genetic BeriBeri. I was diagnosed three weeks ago with BeriBeri and my daughter was diagnosed today. The doctors are trying to figure out how to get us a prescription for the shots and appear to be a bit befuddled by the whole thing.

As of now, my mother is highly suspect as is my son. If they also have the disorder I think we may be looking at a genetic factor.

One thing that complicates the situation is that we're all gluten sensitive. Right now the assumption is that the trauma to the gut made it difficult for us to absorb B-1.

I suppose it'll all work out in the wash. Another month or two and we should have some answers.

I wanted to answer the question about getting a dx for your metabolic myopathy. I have not met the other two doctors you mentioned, but I got my Dx from Dr Shoffner in Atlanta (Mitochondrial Cytopathy, defects in Complexes I, III, and IV). Dr Shoffner was very thorough and is pretty well-known in the mito world as being the guy to go to for your dx. I am not sure who is the best for looking at the other metabolic myopathies, but I do know that Dr Shoffner knew a lot about them b/c we sent my biospy for the fatty acid oxidation defects, repeated my testing for the glycogen disorders, and sent it for some structural protein defects that I had never even heard of (in addition to the OX PHOS testing for mito. I do know that you need a fresh (not frozen) biopsy to diagnose mito, but many of the other metabolic myopathies can be diagnosed from a frozen biopsy. My frozen biopsy was inconclusive but my fresh biopsy was positive for mito on two different tests and also showed some indirect signs of it on two more tests.

Dr Shoffner is very busy, so it takes a few months to get in to see him. They will want ALL of your medical records, imaging, etc (he reviews it all before you come). You go to Atlanta for three nights and two days... get there the night before and then see him in clinic the first day, get your biopsy the second day, and go home the morning after your biopsy. He takes a lot of time with you in clinic at that first appointment. The biopsy is done at a hospital in Atlanta (Scottish Rite for kids and Northside for adults) by a surgeon. They give you sedation and local anesthesia for it, stitch it up, and it is no big deal. It took several weeks to hear back from him about the results. I was able to get my insurance company (an HMO) to cover it by getting a few of my local, in-network doctors to write letters saying that they don't have the facilities to do the fresh biopsy, which I needed based on a strong suspicion of mito. I have been hospitalized with rhabdomyolysis and metabolic "crashes" many, many times in the past few years, though, so my insurance company probably was able to see how a dx would save them money in the long run. It took a lot of pestering to get insurance to cover it, but they did cover it eventually. Dr Shoffner's office will help you with the insurance stuff if you want them to. I think it was well worth it.

I'm happy to find this forum. I'm still playing "Name That Disorder," myself, but hoping to find some answers soon. The best guess at the moment, after ruling various other things out, is that I have some sort of metabolic myopathy. I'm going in for a referral at a specialist institute but not until December.

Until then, I'm trying to cope with how to deal with my fatigue, which is my main symptom. I find it hard to explain to people, when I can do just about anything, but I can really only do about one thing per day (a choice between a few errands, a little work, or the gym for some absolutely crucial weight-training). And of course I look fine. In fact, I look great, because I've been lifting weights!

The hardest for other people to understand, though, and the one that makes me feel the loneliest, is that I get really tired smiling at people or even looking interested in what people are saying. My facial muscles just can't keep up. Though, I also can't completely blank out my face when I get tired; the social instinct to express things in my face is just too strong. Anyone else have this one?

Recently diagnosed with a metabolic myopathy. The rheumatologist's comment was "there's no cure or treatment, so it dosen't matter what kind you have". ???!!!

After reading more about the types, it seems like it's important to know which type you have.

Can anyone help me with this? How do I push the Dr. to go further with the diagnosis? Can the type be determined with a blood test, or only a muscle biopsy?

From what I've read, it's probably CPT or McArdles.

Thanks for your help.

I'm new, I suffer from mitochondrial cytopathy (myopathy?). I think my mother siad its respiratory chain deficiency type 2 & 4...but don't quote me on that. Never really cared much in the past exactly waht was wrong - I know what I can and can't do, when I ache and hurt, so why bother with details? I think now I want to know a bit more, and just be with like-minded people. It can be hard having something rare - people stare at me blankly when I explain what's wrong with me. Didn't realise exactly how rare it was!

For both the last posts in Oct/Nov 07 , its hard to think of where to begin. Yes it does matter what form of myopathy you have, there are no cures (with some niche exceptions if you have CoQ10 deficiency for example) but there are steps that can be taken to optimize how you feel and do (diet, exercise, supplements all carefully regimented-these have helped me). These conditions are very difficult to diagnose, and ideally you need to see an expert, someone active in clinical work and research. Knowing exactly what is wrong will help identify exact supplemements, diet, etc changes to make, they won't cure you but could help.

I would suggest seeing Haller in Texas or Pestronk in St. Louis. Cleveland Clinic (especially for CPT, joint institute with Case western University), Mayo, Mass general are also good choices. url’s below. I was able to get my insurance to pay in network for this (texas referral), based on their unique expertise.

I have had 3 biopsies over the years, one at mass general as a teenager 25 years ago when problems first appeared, one about 9 years ago with a local doctor, and this past summer with Haller in Texas. Although I had a previous diagnosis of a nonspecific metabolic myopathy (suspected mitochondrial or glycogen storage disorder), the exercise testing Haller put me through did not show evidence of this, so I am back to the drawing board. I would still highly recommend seeing him. All three biopsies have shown abnormalities, but generally mild and nonspecific.

My problems are muscle cramping on moderate exercise, and the past few years, muscle pain and fatigue, fluctuating depending on activity level and pretty bad at times. One thing that has helped me is that I have developed some thyroid and pituitary problems, possibly in parallel with the myopathy issues that were significantly affecting my well being. Now that those are under control, I am doing better. I would therefore also recommend seeing an endocrinologist for a full check, often times chronic disease can suppress pituitary function, etc and lead to other problems.

In addition to the texas and St Louis doctors, below links are for glycogen storage and mitochondrial issues, and Cleveland clinic.

Mike

http://www.neuro.wustl.edu/neuromusc....html#research

http://ieemphd.com/NMC%20Homepage/default.htm

http://www.agsdus.org/

http://www.umdf.org/Index.aspx

http://cms.clevelandclinic.org/neuro...rint=yes&id=56

My sister had a hip replacement a few years ago and developed what appeared to be a fat embolus. It wasn't. Her symptoms were fatigue and respiratory difficulties. After a couple years of various testing and muscle biopsy, she was diagnosed with acetyl l-carnitine palimitotransferase deficiency (effecting complex 3, and long chain fatty acid metabolism). I have neurological problems suspected as being MS, but my MRI has been stable.

I get muscle fatigue with exercise.

I don't know whether this recessive mitochondrial definciency might be part of my peripheral problems as I have not been tested for this.

I just had a muscle biopsy and it said I may have a cox-deficient type of mitochondrial disease as well as atrophic myofibers. But some fibers stained more strongly. I have bilateral frozen shoulders (which just are not getting better) and proximal weakness. If I exercise - like going to a store or something, I basically fall asleep later, exhausted. I am waiting to hear from my neuro.

Hello, I am new to this site and have been fervently searching for medical answers. I came across your question. We also are investigating genetic beriberi. Have you found any further information on this and would you mind sharing? What are your symptoms?
Thanks, anything you can share would be appreciated
looking for answers

I'm very new to posting on this site, actually this is my first time, but I have been reading "Threads" for about a year now just trying to maybe find a answer to all my issues. I knew deep inside there was something just a little different than what the Dr's where trying to throw at me. Finally one day I went in to see a new Neuro doc and he said he thought I had what was a rare genetic muscle Disease that he knew nothing about. So while waiting on the results of my first blood test I starting doing as much research as possible. While doing so I found most info was very vague not alot of hard evidence! But I could remember reading on this site and there were a few post that symptoms seemed so much like mine. I couldn't locate those exact post so I decided to register and tell my story so that maybe someone else won't have to suffer or even die just cause there is so little known about Pompe Disease. I have not started my treatments yet cause that alone has been a nightmare itself. There has been so many delays that I feel like Im gonna die before I finally receive the enzyme therapy that is needed on order to sustain life!! Well that is some what my story, but I have so much more to ask and say. Smile



I hope I'm doing this correct.