mitrochrondrial disease/MS

[nuthatch]

I can't really remember exactly how I stumbled on this website about mitrochondrial disease, but I did and found it all sounded a little too familiar, symptom wise.
http://www.umdf.org/site/c.dnJEKLNqFoG/b.4583347/k.5C5B/Ask_the_Mito_DocsmallsupSMsupsmall.htm
Then I read this. :eek:
It's got me thinking about supplements!

Q: My adult daughter, 40 was diagnosed with probable Mito 3 years ago via a muscle biopsy indicating complex I and III deficiencies, as best I can understand the report from Mayo Clinic in MN. Dr. Deborah Renaud's impression states, "progressive cognitive decline with extensive white matter lesions with evidence of a respiratory chain mitochondrial dysfunction...". She has severe urinary incontinence, tremors, slurred speech, impaired cognitive ability and dementia. My daughter now resides in an adult foster care home as her cognitive function is varied from age 4 - 12 depending on the situation. Although she recognizes that she has a husband and four children, her inabilities make it impossible for her to reside in the family home.
My son, age 38, was diagnosed 7 years ago with typical RRMS and injects beta-seron every other day.
I have two questions:
1. Is there any connection between Mito and MS?
2. Is severe cognitive loss common in adult onset?

A: There has been recent interest in whether there is a possible connection between mitochondrial disorders and multiple sclerosis. Early on, the symptoms may overlap. MS requires neurological events separated in space and time, and generally this is appreciated on a brain MRI that must meet several criteria and be backed up by more specific markers in the blood and spinal fluid.
There have been rare cases in which patients have had both conditions. In addition, mitochondrial dysfunction is increasingly recognized as an important cause of tissue damage in MS. Several lines of evidence suggest that mitochondrial genetic factors may influence susceptibility to multiple sclerosis as well.
Unfortunately, cognitive decline can accompany a mitochondrial disorder whether of childhood or adult onset. This may in part be attributable or exacerbated by seizures, strokes, vitamin deficiencies, and infections.

Answered by: Andrea Gropman, MD

I'm so tired of being confused!:confused:

[Kira]

I have mitochondrial disease (Complex I deficiency, dx'd via muscle biopsy). I have secondary dysfunction of Complexes III and IV and secondary fatty acid oxidation dysfunction as well. We recently found my genetic mutation in my blood and my mom's blood in a mtDNA (mitochondrial DNA) gene for a Complex I protein called NADH Dehydrogenase 5 (gene name ND5). I have a bunch of abnormal related metabolic labs, too. So it is a pretty iron-clad diagnosis at this point.

Before my diagnosis, I had a bad flare several years ago that included a lot of neuro symptoms, and MS was considered at the time. My MRI and LP did not indicate MS then, though.

Mitochondrial disease is an inherited (genetic) metabolic disorder. Because every cell/organ in your body needs functioning mitochondria to work, mito typically affects more than one organ system. For instance, I have severe muscle disease, autonomic dysfunction, gastroparesis and poor GI motility, cyclic vomiting, complex migraines with focal neuro deficits, metabolic acidosis, proximal renal tubule dysfunction, fasting intolerance, exercise intolerance, tachycardia, pulmonary artery dilation and pulmonic valve regurgitation, shortness of breath, edema, severe fatigue, peripheral neuropathy, anemia, spasticity, sensorineural hearing loss, central sleep apnea... and so on and so on. Basically, it affects all of my cells, so every time I tell the docs about some symptom and they start doing tests, they find some other diagnosis to add to the list because I have multi-organ system failure.

That is kind of a hallmark of mito... typically people have signs of problems with multiple organ systems. Usually, the organs affected are the ones with the highest energy requirements, since mito is a disease of poor cellular energy production. Cells need energy for pretty much everything they do, even at rest, but some cells need more energy than others (muscle, nerve/brain, endocrine, heart muscle, muscles and nerves that control GI motility, parts of the kidneys, etc, etc, etc). So, while someone with MS would have neuro issues (and complications/effects of those neuro issues on related body parts like muscles and bladder)... someone with mito could have neuro, heart, and kidney issues... or muscle, endocrine, and GI issues... or whatever.

Another thing is that, despite the fact that it is a debilitating, disabling, progressive, potentially life-threatening disease... there really isn't much treatment for mito except avoiding triggers and optimizing nutrition and treating complications/symptoms. Avoid fasting, illness, overexertion, fever, heat/cold, sleep deprivation, etc. Eat frequent, small meals. A lot of people take various supplements for their mito, including carnitine, CoQ10, B vitamins, antioxidants, etc. The specialists that are "mito docs" are typically neurologists or metabolic genetics docs... though many docs don't yet know much about mito and it can be very hard to diagnose because complex testing is often needed, and it is not yet widely available. Re: the supplements, mito docs often put us on very high doses of some of them, though much of that is based on complex metabolic labs.

The other thing is that while genetic mitochondrial disorders themselves are pretty rare, they are finding more evidence of abnormal mitochondrial functioning in many neurological diseases.... not full-blown "mito", but sub-optimal function. I know there has been a lot of talk about mitochondrial function in Parkinson's, Alzheimer's, and various others. True mitochondrial disorders are thought to be pretty rare, but very underdiagnosed... estimated incidence of maybe 1/4000 in the US, including the undiagnosed folks.

[nuthatch]

Thanks for the info Kira. Sounds like you're very knowledgeable on this complicated disease. So sorry you suffer from it.

While reading, both on the website and your post, I recognized many symptoms that I deal with, some that I assumed were due to MS, such as weakness, poor balance, severe fatigue, bladder/bowel control, spasticity, heat/cold intolerance, motility issues, clonus, double vision, ect. Then there's other symptoms I've been told are unrelated to MS, like edema, peripheral neuropathy, hypothyroidism and anemia.

It all makes me wonder if there isn't more going on here. It seems there's not much in the way of treatment for so many diseases other than, as you said, avoiding triggers, optimizing nutrition and treating complications/symptoms.

I'm still hoping for that magic bullet!

[Lady]

Thanks nuthatch, love your avatar. Beautiful bird.

The more information and ideas that get put up on the here the better. Maybe the researchers will find something that sticks on the wall.:)


Kira, thank you for your time and energy to post this lengthly, but very helpful information for us. I am sorry that you have to deal with Mito Disease.

Some questions if you don't mind.
It must have been very hard to diagnose. How long did it take? Does it show up on a Chromosome? If your Mom has tested positive, does she have the disease too or just the gene?

Like you said, many Neuro's wouldn't think of Mito.
Lady


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[Kira]

It took a long time to diagnose because at first they thought I was just stressed/whining/etc. Then my disease progressed and things were more obvious clinically and they couldn't blow it off anymore (though they tried). I started having episodes of rhabdomyolysis, which is where large amounts of muscle tissue dies at once, causing loads of abnormal labs and many potentially life-threatening complications (acute kidney failure, severe electrolyte abnormalities, metabolic acidosis, arrhythmias, neuro complications, disseminated intravascular coagulation, compartment syndrome, profound muscle weakness & swelling & pain, etc, etc, etc). There are a lot of obvious lab abnormalities that occur with rhabdomyolysis, like elevated CK, acidosis, abnormal electrolytes, abnormal CBC, etc... and I had a LOT of hospitalizations... so the doctors started trying to actually figure it out.

Not everyone with mito gets rhabdomyolysis, but it was the problem that finally got the docs' attention in my case. The symptoms of rhabdomyolysis are hard to ignore (my first documented attack was VERY severe and prompted an ER visit and long hospital stay).

It is hard to say exactly how long it took to get diagnosed because I have technically had this my whole life, since it is a genetic disease. But it is progressive, and so my symptoms weren't as bad when I was a kid and we didn't realize that I had a disease. In retrospect, my first significant issues with it were as a teenager, and I started getting really sick in college. My first BIG flare was when I was 21, the first hospitalization for rhabdo was when I was 25, and I got diagnosed at 27.

I was diagnosed based on a muscle biopsy. The typical muscle biopsies they do are usually not sufficient to diagnose mito... my first muscle biopsy was a frozen one and was not specifically tested for mito, so the results showed multiple abnormalities but were non-specific and couldn't rule mito in or out. I had a second muscle biopsy done at a hospital with the facilities to do the correct testing on it, and they took a fresh muscle specimen rather than a frozen one. That biopsy showed severe deficiency of Complex I function, secondary deficiencies of Complexes III and IV, secondary fatty acid oxidation dysfunction, and the same nonspecific abnormalities that were seen on the first biopsy. I have had a TON of metabolic testing done by the metabolic genetics clinic at my local university hospital as well, which shows various abnormalities related to my mito. And then there is all of the stuff from my various specialists related to the complications of my mito (cardiology, neuromuscular, nephrology, pulmonary, GI, etc, etc, etc).

In addition to the testing on my muscle biopsy which gave the diagnosis, they did genetic testing to look for my specific mutation after I got my mito dx. The genetic testing was sequencing of my entire mitochondrial DNA. (Mitochondria have their own DNA, separate from the cell's regular nuclear DNA... it gets complicated, though, because both mitochondrial genes and regular nuclear genes can cause various mitochondrial diseases). It was technically done as research, through the doctor that did my muscle biopsy. It was done on part of the sample of my muscle tissue they had from my biopsy, but can be done on some other tissues as well. Once they found my mutation, they requested blood from family members (also part of the research study), and found that my mom has the same mutation. She has much milder issues than I do, but does have some mild issues that are likely related to the mito, and has many of the same lab abnormalities I do (just milder). There is other evidence of mito in our family history, too.

Mitochondrial disorders are actually a set of a lot of different diseases caused by a lot of different mutations. Some mitochondrial disorders show up better on the typical frozen muscle biopsies, and some can be diagnosed by a simple blood test that screens for the more common mutations. If the frozen biopsy and screening blood test don't show anything, though, it doesn't rule it out... if that makes sense. Testing for mito is pretty complex and is not widely available at this point. And they can't do much about it anyway.

[Lady]

WOW! Kira you sound like a medical professional. All that information you gave us, and all that typing, must have worn you out. Thank you for answering my questions.

I suppose I could look up the disease, but having you explain it, from your personal experience, has made it easier to understand. You have been through so much. Thanks again.:)
Lady



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[Mariel]

Porphyria is another disease which has MS typical symptoms plus some add-ons like acute abdominal pain, tachycardia. I have been dx'd with both MS and Porphyria, as well as Essential Thrombocythemia and Monoclonal Gammopathy, the latter two diseases of increased cell production in the marrow.

Some people say that Porph is a mitochondrial disease at least in some types, but Porph is SO little known that it would take more energy than I have to run down a specialist who could describe this to me in meaningful detail. I gave up going to MS docs some time ago, even to neurologists, as my primary docs now are Hematologists,
but I believe I still have MS. Certainly I had brain lesions showing on 14 MRI's, with the area of affliction moving and changing, and had positive tests for ON (which first brought the dx). So I too have a complex condition. I am old now, but I was complex before I was old.

There are many many things which doctors do not know.

As in Mito, those of us with Porph cannot fast--at all--or we will get bad symptoms. It makes lab testing hard when fasting is required. In fact I just give up on some tests which require fasting.

As with Mito, there are many more undiagnosed Porphs than diagnosed. I was only dx'd because a researcher prowled Braintalk long ago and suggested we look into the Porph Safe/Unsafe drug list.

Kira you know more about your disease even than I know about Porph or ET or MG. Thanks for sharing.

I am told that the chances of me having even two of my blood diseases at the same time are one in ten million...but I think that is probably wrong.