follow-up: Mitochondrial Disease?

[lydia]

Hello All,

Saw my primary today with the intent of getting some symptom relief for sore/stiff left elbow...ended up discussing the Big Picture (again,....heavy sigh) and now he suspects a mitochondrial disease. He believes that some of my issues might be explained by this possibility and is sending me to a specialist (here in my own city; how lucky!). He reported having a few other adult patients with stories very similar to mine who were eventually found to have some kind of mitochondrial disease. He was incredibly animated about this; it was positively contagious. I thought why yes, it could be mito...blahblahblah..whatever he said! To be teased with an answer; the brass ring is so close! Even though I have no idea what any of this means....anyone out there go this route?

I haven't had my private consult with Dr. Google yet so I can not even fake an intelligent conversation about this new possibility. I can share that I feel as if physical activity, no matter how mild, poisons me with its side effects: muscle soreness, stiffness, widespread and LONG cramps, increased twitches, increased weakness. The more I do the worse it gets, and it takes sometimes days to recover from doing too much (where "too much" is defined loosely...perhaps I folded 3 loads of laundry AND vacuumed the first floor AND did the dishes AND ran to the store. What was I thinking?) And I use the term "recover" loosely as well; I am so different than I was a year ago. But I can function; I just have to pace my functioning....if that makes sense.

A recap of some of my "issues" that I think are most relevant:

*twitches for almost 2 years (and note: they did NOT bother me. I twitched in grad school on a regular basis and assumed that these new ones were my reward for entry into academia)
*muscle soreness/stiffness (debilitating in the hamstrings! obvious to observers)
*left side neuro confirmed weakness in arm, leg
*neuro identified atrophy in left forearm, left ankle
*absolutely horrible muscle cramps in legs, feet, hands, ribcage, throat, jaw
*left foot dragging
*hyperextending knee
*balance difficulties. Uneven terrain difficult to walk on.
*tripping-on a daily basis.
*fine motor difficulties in left hand.

Other issues that are not so relevant, but still bothersome and NOT discussed with primary today:
*the drooling that has started in the last month or so
*the slurring that happens now even when I am not tired

Recall original differential was between MND and early onset Parkinson's, a clean EMG and a bizarre SPECT scan respectively cleared me of either diagnosed but unsure where to go next. (Inattentive) neuro said BFS (even with atrophy & weakness!) and low b12, brain scan said small vessel disease... Seeing a movement disorder specialist in a few weeks, and now the mitochondrial specialist (if that is what he is called) hopefully next week.

Thank you for reading-

Lydia

 

[awieleba]

wow~ Good luck!

 

[rose]

Lydia,

Parkinson's is a mitochondrial disease (I think)... Parkinson's also can cause hyper-salivation

... if only diagnosis were really this easy. kind of like getting an "easy" button 8)

Seriously, this is a step forward!

 

[lovelily]

Hello lydia...Mitochondrial disease is found by muscle biopsy, (I believe) and they will look for something called 'red ragged fibers'. It is not contagious.

Best wishes, as you continue to search for your answers!

 

[planningguy]

Lydia,

Like Lovelily said, they can check for mitchondrial disease with a muscle biopsy. It was one of the possibilities they were looking for when they conducted mine (that and polymyositis). Its not too bad.

Just out of curiosity, what was your B12 level when you were diagnosed? You may have mentioned before. I was suffering from fatigue and parathesia when my pernicious anemia was diagnosed. I was just a little surprised (but hopeful and still am)when your neuro ascribed everything to low B12.

I would echo Rose in that hopefully this is a step towards getting an answer.

Robert

 

[brendapals]

hey lydia,
wow, what a day for you!
I certainly will be praying for you,
hugs,
brenda

 

[olly]

hi lydia

i have to say you sound alot like me with your list of symptoms.
i looked up mitochondrial desease,most cases are genetic.
have you asked for genetic testing? i had it done they said it was ok in a shadey way but i guess these things can show up other potential illnesses.
i found this info from the cleveland clinic ,it may help.
just wondering but do you have difficulty maintaining wieght?
despite eating better with the jaw weakness my wieght has plumitted again.
in this article it mentions it being a metabolic dysfunction so nutrition can not get to certain cells/organs.
the bad news is they can only try to control symptoms,it is progressive and incurable.

http://my.clevelandclinic.org/disorders/mitochondrial_disease/hic_mitochondrial_disease.aspx

 

[lydia]

Robert

Robert, my B12 was 311. My original neuro took so little time with me that it is hard for me to take her "conclusions" seriously. After a 15 minute initial visit she reported to my GP about the possibility of MND or Parkinson's. At the time I took her rapid interpretation of my symptoms to mean that I must be really bad if those were the possibilities she immediately went to. Now...I just think of her as careless and inattentive. She said BFS when I have atrophy and weakness (confirmed and/or identified by her!). She also said low b12. I felt like the low b12 and BFS just covered all her bases. In her second report to GP she had several errors contradicting her previous report and implying she had actually examined me at second visit (a five minute visit where she read my test results for the first time). For example, she said I had no evidence of cogwheel rigidity or fasciculations despite describing them both in first report. I don't know how she determined this when she didn't touch me (or look at me for that matter). She also said that my gait was fine, despite my being seated from the time she walked in the room until she left, and even though on first report she wrote about the left leg drag. I want to believe her but it is hard when I feel as if she didn't pay attention. If I am going to have Parkinson's and MND eliminated I want it done by someone who pays attention (hence the wonderful specialist I see in a few weeks). Plus I feel she was careless in raising the specter of MND to begin with.

Lydia

 

[lydia]

So I spent some time researching mitochondrial diseases. Wow, they are awful for children. It was heartbreaking. And like ALS, hardly anyone has heard of them. I know I hadn't.

I did finally find a site that describes one variation in adults (spiralnotebook) and much of it sounded so much like what I experience I can certainly see why my primary thought of it. BUT I am missing at least one important symptom (something about the urine and really really high CK levels) and whatever I am suffering from seems to pale in comparison to what the people featured on the site experience. Their muscle soreness/stiffness/pain/cramps can take weeks to recover when they overdo it, and also sometimes requires hospitalization. So I just don't know...at the most it takes me 3-4 days and I certainly would never entertain a hospital visit.

On a side note, while at the primary yesterday I was describing how my lifestyle is so different from a year ago, how I have to anticipate the level of physical activity and pace it all out while "penciling in" recovery time as well... and I mentioned in passing that when I get hungry....I am absolutely ravenous. That I feel weak, shaky, faint...that I feel the compelling need to eat several times a day when I have for years only ate twice a day (with no snacking). That I have to arrange my work day and space so that food is available when I know I am going to need it or I will just feel so bad I have to go home and lie down. I never saw this detail as important, just annoying, and had attributed it to my overall weakness. Since I am weaker on many levels it makes sense that the impact of hunger would be exaggerated. BUT here is the kicker: when I was reading about mitochondrial disorders I saw that there are issues with eating, with getting the carbohydrates in, that it is imperative for well-being, AND even as a means of reducing and/or preventing muscle symptoms. So who knows? Maybe this MD (another acronym) is the answer for me.

Incidentally, I saw that ALS is one of the diseases in the differential for MD. Hopefully my experiences here, whether or not they end up being attributable to MD, will provide hope/insight/evidence to others who land here of at least one specifically named disease that can mimic some ALS symptoms. I read many times here about all the non-ALS possibilities that can explain our symptoms...but only occasionally read the actual names of those possibilities. Without the names, the inevitable googling will only produce ALS (for all the reasons described currently in other threads) and the vicious cycle continues.

More later, thanks all for reading and responding.

Lydia

 

[Sammantha]

Ohh man i wish one of my docs would think of that! I was watching the world series and they were talking about a pitcher who was out half the season. He had overwhelming fatigue and muscle issues and could not get through a whole game. It turned out he had a mitochondrial disease and that is the first time i heard that word. So now he is back playing with treatment he just has to take it easy, you know not play a whole game at a time! Then my grandmother sent me a article about a pediatrician who had three kids and all of them were sick, the oldest was best off and the youngest was the worst! Even her collegues doubted her and John Hopkins told her that they thought she needed her kids to be sicker than what they were, because some sort of pyschiatric thing! Then finally she found a doc who suggested a mitochondrial disorder, and they all had it! Even the mother, she passed it on to them but her problems were chalked up to normal things like muscle ache and fatigue.... her youngest child had what appeared to be down syndrome it had gotten that bad.......... I wish someone that had more knoweledge about mitochondrial disorders would speak up on here!

 

[olly]

i found another great article on this here
http://www.emedicine.com/neuro/topic672.htm

http://www.emedicine.com/neuro/topic580.htm
notice the differential diagnosed.

Late-onset AMD may be confused with the following because of the proximal weakness:


Polymyositis or limb-girdle muscular dystrophy
Becker muscular dystrophy because of calf muscle enlargement
Myotonic dystrophy because of myotonic discharges on needle EMG
Motor neuron disease because of respiratory failure as an initial presentation

fassics,atrophy and other mnd symptoms can be present in mitochondrial myopathy.

 

[lydia]

Hey Caroline, I didn't see that atrophy could be a part, so thanks for pointing that out. I was wondering how it would fit, but with Thanksgiving I don't have the time I need to research this. I will take a peek at your links later. Does AMD stand for Adult MD? Sam, I had also JUST heard about that baseball player as well. How weird is that. Will update as I hear more. MD is not curable but it is certainly do-able. I will take it unless I get a better offer:-D
Lydia

 

[suzannj]

Hi Lydia,
Been thinking of you, but trying my best to stay off the Forums . . .obviously not very well today though!

Wow. I too had never heard of mitochondrial disorders until one of my best friend's son got "sick" at age 1 1/2 and to make a very long story short, they thought 100% he had something called Leigh's Syndrome (sp?) which is one of the mito disorders. When I started Dr. Googling for her (since she was always in the hospital with him) I was overwhelmed at how many different versions of mito conditions there are, AND that I had never heard of any of them! 100's it seemed. And I did read that although most common in kids, adults can be "fine" their whole life and then something kicks it in gear so-to-speak. Food intake is HUGE with them too, some mito conditions can be "cured" with proper diet.

In the end I'm so happy your GP is on the ball and hasn't written you off. If anyone watched House last night, it was about a patient who had gone off the deep end after going to 16+ doctors trying to find out what was wrong with him, and he walked in the hosptial with a gun, took hostages, and demanded a diagnosis! Amen to feeling THAT way more than once! If only Dr. House was real . . . .

Take care, and I hope you have a nice Thanksgiving,
Suzann

 

[planningguy]

Caroline,

Thank you for posting those articles. Like Lydia I didn't realize that atrophy could be a symptom, and was just going to ask that question.

Robert

 

[olly]

Adult acid maltase deficiency

Adult AMD presents after age 20 years, either as a slowly progressive myopathy, which clinically mimics polymyositis or limb-girdle muscular dystrophy, or with symptoms of respiratory failure, or both. Weakness affects the proximal muscles more than the distal muscles. Selective muscle weakness is not uncommon, eg, the sternal head of pectoralis major often is affected more than the clavicular head and the thigh adductors are affected more severely than other lower limb muscles. Scoliosis affects about 10% of patients. Atrophy of muscles, when present, is proportionate to the weakness. The deep tendon reflexes diminish and disappear with the progression of weakness. About 30% of patients present with respiratory failure. An increased association with basilar artery aneurysms exists.

this was the passage i found it but have seen it somewere else i was looking at.