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Mitochondrial cytopathy ?
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. Also i have a little difficulty in swallowing. I fall unconscious quickly, before i realize i'd be on the floor. I also have migraines but i am not taking any medicines but tolerating this damn thing. 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 adviced 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. 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 in activeness exacerbate my condition? Also when i did the NCV test, they 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
HK
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PS: I also have burning sensation in my palm and feet. And my hands and feet remains cold despite the weather conditions.
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no replies? :(
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