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Forum Name: Neurology Topics

Question: Is it Mitochondrial cytopathy?


 harptech - Mon Mar 23, 2009 7:59 am

Hi,
Since childhood i'm not active as other children. I get tired easily, and had(and still have) difficulty in climbing stairs.and get tired easily. I never was able to run as my mates do. I have ptosis on both eyes, though is more evident on the left eye. I have shortsight, but though i wear glasses, i have this foggy vision, even if i wear or take off my specs. I also have some weird leg muscle cramp or pain, which intermittently occurs. I am asthmatic, but more importantly, i get infected easily so that i had to take antibiotics (oral) 2 or 3 times a month. I also had this weird constipation (?) whether or not my stools were hard, i had constipation, or better i'd call it some obstruction like feeling (pseudo-obstructon). Also i have a little difficulty in swallowing. I fall unconscious quickly, before i realize i'd be on the floor. I also have a weird headache throught the day. I loose balance and tends to fall backwards sometimes. And my hands seems to be clumsy. I had a neuro consultation when i was 12, and they doubted myasthenia gravis, but all those tests were -ve. Now i am 18, and last year, i had was on high dose of steroids and antibiotics for months due to acute pneumonia, and my symptomps seems to have aggravated after the steroids were completely tapered.

Now i consulted a neuro again, and he doubted congenital myasthenia, congenital myopathy, mitochondrial cytopathy and steroid induced myopathy. He couldn't reach a diagnosis. However he advised me to take Ephidrine sulphate 30mg thrice a day. This continued for a year plus and i had no significant improvement with this thing. So lately i consulted some experienced professors and they all primarily doubted MC. Blood lactate test turned out to be positive. (Elevated blood lactate level) Also the EMG proved to be myopathic. And i had my muscle biopsy done, however the result was -ve. Now they've sent the sample for electron microscopy. Anyway they started giving me levocarnitine, Coenzyme Q10 tabs and all those vitamin stuffs.

Is electron microscopy diagnostic? Coz i hate this situation where i am suffering and yet they're not able to give me a diagnosis. Is this disease progressive? What things should i take care of? Now i am not active as i have steroid induced osteoporosis and will inactiveness exacerbate my condition?

Also when i did the NCV test, it proved to be negative (Myasthenia gravis) showed no decrement but a double CMAP (that's what they call it) was observed. What does that mean?

Thanks spending your invaluable time for resolving my queries.

With regards
Harry
 John Kenyon, CNA - Mon Apr 20, 2009 11:11 pm

User avatar Hello --

While you've had some pretty in-depth studies done, it seems there were certain problems assumed to be ruled out while simpler, more obvious ones may have been overlooked. It's difficult to tell for sure, though. While ptosis is strongly suggestive of MG, this seems to have been ruled out while other things have not been, and ptosis can turn up with other neurpathies and sometimes just happens on its own (genetic but meaningless). While your neurologist seems to know what this is not, he hasn't landed on what it might be, which is odd. It would seem you still need to have ruled out Multiple sclerosis (MS) and idiopathic peripheral neuropathy (IPN), which can look similar and can cause most of the same sets of symptoms you're describing. As for that CMAP, that's compound muscle action potential, and doubling is unusual but not a bad thing. What it means is there is potential for your muscles to react to never impulses faster than normal, which is often discovered in individuals with other nerve deficits.It may indicate an overcompensation in some other area. At any rate, while electron microscope study can be diagnostic of some diseases, if it's not applicable here, and if it doesn't disclose anything, there is still MS and IPN to be ruled out. MS is usually ruled out via MRI of the brain, while IPN is often a default diagnosis when all else fails to come up positive. I have a notion, based on your symptoms, this may wind up being the problem. It's not life threatening but can cause most of your complaints. It is sometimes accompanies by burning pain in the extremities or some numbness, but not always. The balance and autonomic fainting issues tend toward IPN, but MS must be ruled out first.

I hope this is helpful. Good luck to you. Please follow up with us here as needed.
 harptech - Wed May 13, 2009 10:47 am

Hello sir,

First of all i thank you for spending your precious time answering my queries. Well as of ruling out MS, that's a real possibility because i have bilateral clonus which i forgot to mention - is strongly suggestive of MS as far as i know. But I don't know why doctors are not doing an MRI which can almost rule out MS. And another thing, i have this feeling of throbbing pain especially in palms and feet that lasts for a few seconds. This randomly comes and goes, and it feels like i had been pricked with needles. Is this what they call twitching? I cant see any muscle movement under the skin during the pain. So i guess the pain is neuralgic? To add, i have hypermobile joints as well.

Another thing i feel especially when i relax is that a shock like sensation on my back. That is mild, but noticeable and irritating. What may be the possible cause of these symptoms?

To add, I have recurrent infections since my childhood (2 years or so) which made my doctors suspect a mitochondrial disease. If this is mitochondrial disease then how come i have other neurological signs related to MS/ALS? Is it possible to have both MS & MC by any chance? I'm dazed.

Well, about MG, doctor repeated NCV for the 4th time (all areas including spine and face), and still it's negative. So i suppose the IPN can also be ruled out along with MS? Or is it possible that i have any of them and still the NCV will turn out to be negative?
 harptech - Wed May 13, 2009 11:11 am

To add, my muscle biopsy results say i have 'Type II Fiber atrophy' and 'Angulated fibers'. Is it indicative of any underlying disease? But no ragged red fibers were found.
 John Kenyon, CNA - Sun May 17, 2009 10:34 am

User avatar You're very welcome.

It's a mystery to me why no one has ordered the MRI, as it can be diagnostic (a good rule-in) for MS, though not necessarily a rule-out if negative (though it makes that diagnosis then less likely). This is something I would press for if there's any possibility. The bilat clonus also does strongly suggest the possibility of MS. Type II fiber atrophy suggests something is going on, but occurs with so many and varied disorders that it's not specific for anything. A thing worth knowing, nonetheless.

While IPN may be reasonably ruled out with consistent negative NCV it doesn't necessarily rule out MS. And while the two can appear and act very siimilarly (IPN may sometimes even just be a stage of MS evolving) MS isn't ruled out by negative NCV. So it's still a major suspect, especially so long as the MRI isn't done.

It is possible to have mitrochondrial disease simultaneously with any of the other disorders being considered, and if so it may or may not be related in some way. The fact you have hypermobility suggests there may be a more broad conncective tissue disease/autoimmune connection, but again this is one of those things that can also stand alone alongside other issues. This is what makes these sorts of problems such a long, drawn out process to diagnose.

Please keep us updated. Good luck to you as always.

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