How long have you had symptoms?

[Shellbell]

Mine started with twitching about about 8 or 9 years ago. Scared the Pee Dookie out of me! Then I had some muscle cramping and at times have felt week. Now the number one problem I have is aggravating joint problems. My sholder feels like it needs to be popped all the time.
My neck is full of spurs. Surgery will probably be the only cure for that one.

Still think my twitches were either caused by my flu shot or
being rearended by another car while I was sitting at a stop light

Who knows. I just know that the twitching used to scare me and this forum made it so much better. Advise, Friendship and fun.:)

[mamafigure]

I think that it has been 7 years. I had bronchitis, caught flu on top of it and spiked a fever. Over the next week right side partially paralyzed and tremors. This September, neuro said that I have viral parkinsonism, similar to what the people in Awakenings.

Mama

[Shellbell]

I'll have to read up on that mama.

Isnt it scary? I used to think viral infections were nothing. But they sure proved me wrong.

[annabel]

My twitching started about 9 years ago, after the birth of my first daughter. Around the same time, I developed severe anxiety disorder. I'm absolutely positive my twitching is a symptom of anxiety.

[mamafigure]

Shell, I was told that this wouldn't progress, but it seems to be progressing, very slowly, at least until I had this surgery. Now my mobility has backslid a lot.

Annabel, I am glad that you have discovered how your anxiety and twitching developed. That is so hard to do. For most it is, which came first, the twitching or the anxiety.

Mama

[Shellbell]

Annabel,

Funny that you mention that. I also had severe anxiety at that time. And a very dard depression. I can't remember which came first though the chicken or the egg. But I agree that the anxiety sure can cause twitching.

[fishdude]

More than 10 years now - not much progression, so I can't complain!

Fish

[mamafigure]

Fish,
Sure you can!!
Mama

[Shellbell]

I am so glad that I am not worried like I use to be but you know you guys are one of the reasons I survived.:)

[blmave86]

Like Fish, twitching for more than 10 years.
It has gotten progressively worse though.
Shirley

[Kira]

I don't twitch. Well... I take that back. I DO have fasciculations. But it is just a minor part of my myopathy and not something to worry about.

I have mitochondrial disease (defect in Complex I with secondary dysfunction of Complexes III and IV as well as secondary fatty acid oxidation dysfunction). It affects my muscles, brain, nerves, heart, retinas, kidneys, stomach, intestines, pancreas, acid/base balance, and bone marrow. I have been hospitalized 21 times in the past 2.5 years because of this disease. We first suspected this disease in Jan. 2005 when I had a sudden, severe, life-threatening attack of rhabdomyolysis. Since then I have had a total of 10 documented attacks of rhabdomyolysis and probably a handful more undocumented ones. But in retrospect some severe neuro problems I had back in 2000 were likely the first severe manifestations of my disease. My first attack of rhabdomyolysis that I can clearly distinguish was in 1997. Some of my more "vague" symptoms (exercise intolerance, nausea/vomiting, migraines, exhaustion, muscle pain, sudden severe abdominal pain) date back to childhood.

Of course, since it is a hereditary disease, I have technically had it my whole life. But it is also a progressive illness and you often don't show signs/symptoms until young adulthood, which is what happened to me.

For more info: www.umdf.org (http://www.umdf.org) (United Mitochondrial Disorders Foundation)

[lexiathedragongirl]

Bit had to say just how long, some sxs date back to childhood, but most worsened around 1998-2000 after second pregnancy. I had flu, chickenpox and bad gastro whilst pregnant and never fully recovered. In 2000 developed viral enecephalitis which took 2 yrs to dx. This left me with right sided deficits, partial epilepsy and complicated migraines. I developed fasciculations during this time, but they have pretty much settled now. I have also been dxd with post viral chronic fatigue and have ongoing muscle issues, heart, kidney and GI probs that are a nuisance but aren't life altering.

[Ed Ebbs]

I have had the twitching since 1995...seems like a long time ago. My wish and my hope was to live to see this century. At the time I was not sure of the future or my mortality. This year my twitching left for a couple of months and then returned...interesting I think. I have no other issues and therefore I feel blessed in that respect. The only medication I am on is an aspirin a day because of my baby boomer status...haha :-)

A quote:

"Worry affects the circulation, the heart, the glands, the whole nervous system. I have never known a man who died from over work, but many who died from doubt."
~Charles Horace Mayo

But my favorite is:

"Do not anticipate trouble, or worry about what may never happen. Keep in the sunlight."
~ Benjamin Franklin

I believe that the fear of suffering is probably much harder on a person than the suffering itself...I say this because of the many hospice patients that I knew and have now since died.

I wish you all the best and pray that you are are blessed with hopes of getting through this mess--A little poetry, lol :)

Take care of you and Yours,
Old Ed :-)

[minnie]

I have no idea, but things started changing for me after I had my daughter and a TL.

[ms1128]

Hi Kira...:)

I have a neuromuscular disease. Unknown myopathy. Found through muscle biopsy. I was checked for MELAS because I fit the profile, but the one mutation they checked me for, came back negative...with the stipulation that I may still have the mito disorder. There are so many different variations of these diseases.

Can I ask how they found your disorder??? I had no red ragged fibers, but on the second biopsy I had denervation. I can fit into so many of the catagories on the board here, that I feel that people would think me nutty.

I have Lupus W/APS. My headaches were so severe that I felt as if I were having a stroke each and every time. Facial drooping, slurring speech...well, turned out they "were" stroke like, causing perpetual vertigo and dizziness from the age of 19. I am 49. Abnormal heart rhythm. Lots of other crap. Loss of balance and what not.

In my 20's, I was diagnosed borderline epileptic. Put on dilantin, so it would not go into "full blown epilepsy". I know I have seizures, but not the kind that make you drop on the ground. I am going for "EEG" in 2 weeks. I am having problems were I feel as if inside my mouth gets big then goes into my head...then I feel as if I need help. Everything goes fast. I don't know if that makes sence to any one. It doesn't last very long, but it scares me.

I have had other really weird things from sleep...but I think I would be put in the looney toon farm if I tell any one. Sometimes I can't believe I am so screwed up.

I am on so many meds that I feel like a freakin pharmacy. But...the up side is, I have a great team of doctors. Starting with the PCP to the neuro and the neurophychiatrist and the rheumatologist.

Well....that turned into a novel. I feel better. Thanks for reading!!! :)

ps...it's hard to sum up 30 years of illness:(

[Kira]

My mito was diagnosed with a FRESH muscle biopsy. The first muscle biopsy I had was a FROZEN one, and they cannot do the appropriate testing to r/o mito on a frozen biopsy. My first muscle biopsy was abnormal in lots of non-specific ways (lipid droplets seen on electron microscopy, type 2 fiber atrophy, etc) but did not show the classic mito signs (ragged red fibers, etc).

My second muscle biopsy was done as a FRESH biopsy in Atlanta. I saw Dr. Shoffner at Horizon Molecular Medicine. It is important to do a fresh muscle biopsy because they test the activity of the various enzymes in the mitochondrial respiratory chain while the muscle is still fresh. So you have to have the biopsy done somewhere that has a lab that can do the respiratory chain enzymology on the muscle sample right after it is removed. To my knowledge, there are only a few places in the country that are doing this. Dr. Shoffner in Atlanta is pretty much "the" doctor to see for this. Horizon will help you get insurance coverage worked out, but you do need a referral from your primary doc/neuromuscular doc/whatever. I believe they also do these biopsies at Cleveland Clinic (Dr. Cohen and Dr. Parikh) and at UC-San Diego (I don't know the doctors' names). There may be some other places that do the mito biopsies, but I haven't heard of them.

They are also looking in to being able to diagnose mito via cultured fibroblasts from a skin biopsy. The skin biopsy is taken at the same time as the muscle biopsy.

I also have symptoms that fit pretty well with MELAS but do not have one of the known MELAS mutations. Dr. Shoffner's lab was doing some sequencing on my mitochondrial DNA to try to identify the mutation, but I have not heard back from him about it yet. Mito can also be caused by mutations in the nuclear DNA (the cell's "regular" DNA), so the whole process of finding the mutation gets complex pretty fast. According to my genetic counselor, my family history seems suspicious for a mitochondrial DNA mutation due to some strange health issues that follow a maternal inheritance pattern. But it is also entirely possible for it to be a recessive, nuclear DNA mutation.

Do you have a metabolic/genetics doctor that specializes in diagnosis & treatment of metabolic disorders? I spent a couple of years going to neuromuscular doctors, and they were unable to figure me out. By chance (a long story) I got hooked up with my current local metabolic/genetics doc, and he is the one who got the ball rolling with my diagnosis. We did a lot of blood and urine tests for various metabolic indicators (blood and urine organic acids, plasma lactate and pyruvate, acylcarnitine profile, white blood cell CoQ10 level, etc, etc) and came up with non-specific stuff again. They really strongly suspected either mito or a fatty acid oxidation disorder in me, though, and so my metabolic/genetics doc sent me to Atlanta for the muscle biopsy.

If you still have tissue left from your first muscle biopsy (i.e. frozen tissue stored in the pathology lab), there are some disorders that can be ruled-out on the frozen muscle tissue. There is a lab in Buffalo that can do testing for a lot of different enzymatic defects, like CPT II, McArdle's & the other glycogen storage disorders, etc. We sent my leftover muscle from the first biopsy there. It is Georgianne Vladutiu's (sp?) lab. They can do some of the mito testing on the frozen muscle, too, depending on the lab... it is just that the most important stuff (respiratory chain enzymology) has to be done on fresh tissue right after the biopsy is taken.

What supplements are you taking? Not a whole lot changed for me after diagnosis except for a little refinement in my supplement regimen and a whole lot of validation. Most mito patients take L-carnitine (the prescription stuff... Carnitor or its generic equivalent, NOT the drugstore stuff) and CoEnzyme Q10. The recommended CoEnzyme Q10 is made by a company called Tishcon... this form is recommended because it is absorbed much better than other forms and because this is the form that has been used in studies for mitochondrial disease (it has "orphan drug status" from the FDA for mito). There are a whole host of other supplements people with mito take, like B-vitamins, antioxidants, creatine, etc... but the carnitine and the CoQ10 are the most important.

Diet is also important. Many people with mito do better with frequent, small meals. Some people with mito do better with high carb, low fat diets... and some do better with high fat, low carb diets. This partially depends on what complex your defect is in. I have defects in 3 of the 5 complexes, so right now I am doing a diet that is moderate in carbs and fat, since we can't tell which diet I would do better with.

Avoid skipping meals or getting dehydrated. Avoid strenuous exercise, although regular moderate exercise has been shown to increase the number of healthy mitochondria in muscle. Other things that can set off a mito flare are illness/fever/dehydration, being overheated or too cold, not getting enough rest/sleep, infection, etc.

For me, the management of my mito has been about taking the supplements, eating well, getting regular mild exercise, avoiding triggers, and treating symptoms (such as pain, nausea/vomiting, mood, etc).

A very good resource about mito is the United Mitochondrial Disorders Foundation website (www.umdf.org (http://www.umdf.org)). There is also the Mitochondrial Disease Action Committee (www.mitoaction.org (http://www.mitoaction.org)) and the Muscular Dystrophy Association (www.mda.org (http://www.mda.org); they cover all of the metabolic myopathies including mitochondrial myopathies).

Hope I have been of some help. I would really try to get in to see Dr. Shoffner for a biopsy. We had to travel from Wisconsin to do it but it was well worth it because now I know what is wrong (Mitochondrial Cytopathy, Complex I).

[ms1128]

Hello Kira!

Sorry for the delayed reply. My computer had gotten a virus and needed purging.

The doctor who suspected myopathy was an "endocrinologist" from my regular practice of doctors. I had had a series of small strokes, at the age of 46, but had been ill with central vertigo, (now suspected stroke at 19) and borderline epilepsy since the age of 19.

My family ran a history of hypoglycemia. I do not have that, but passed it to 2 daughters who have had it from birth. That's why the suspect of MELAS, plus the stroke like migraine....slurring speech and what not.

The first biopsy was from my upper arm and was sent fresh to "Weill Cornell Medical Center". NY Presbyterian Hospital.

When I read the report, I see that one block is frozen.

The biopsy report stated...I'll leave out the jumbo. biphasic fiber size distribution w/ numerous small, round fibers with subsarcolemmal accentuation of staining on NADH-TR. Trichrome stain shows reticular network in larger fibers. No evidence of denervation. Although typical red-ragged fibers are not seen, the possibility a mitochondrial disorder should be evaluated.

Diagnosis: Myopathic changes

The second biopsy is much more involved. That came from the leg.

Your info is greatly appreciated. I need a doctor who knows his stuff. Thanks.

[dland8]

Hi Kira

My 16 year old daughter has suspected MELAS. I am interested in talking to you about your symptoms and progression of the disease. Do you suffer from seizures and what medication do you use? How long have you had the disease and how does it impact on your daily functioning? I am desperate to speak with someone.

Kind regards
Denise