Aa
A
A
Close
Avatar universal
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
Cancel
2 Answers
Page 1 of 1
Avatar universal
PS: I also have burning sensation in my palm and feet. And my hands and feet remains cold despite the weather conditions.
Comment
Cancel
Avatar universal
Comment
Comment
Submit Comment
Avatar universal
no replies? :(
Comment
Cancel
Avatar universal
Comment
Comment
Submit Comment
Your Answer
Avatar universal
Answer
Know how to answer? Tap here to leave your answer...
Answer
Submit Answer
A
A
Blank
Weight Tracker
Weight Tracker
Start Tracking Now
Neurology Community Resources
RSS Expert Activity
233488 tn?1310696703
Blank
Marathon Running Done Over Many Yea...
05/15 by John C Hagan III, MD, FACS, FAAOBlank
233488 tn?1310696703
Blank
New Article on Multifocal IOL vs &q...
05/15 by John C Hagan III, MD, FACS, FAAOBlank
748543 tn?1463449675
Blank
TMJ/TMJ The Connection Between Teet...
01/15 by Hamidreza Nassery , DMD, FICOI, FAGD, FICCMOBlank
Top Neurology Answerers
620923 tn?1452919248
Blank
selmaS
Allentown, PA
144586 tn?1284669764
Blank
caregiver222
1780921 tn?1462244109
Blank
flipper336
Queen Creek, AZ
11079760 tn?1449081557
Blank
cjtmn
Minneapolis, MN
209987 tn?1451939065
Blank
tschock
AB
4760166 tn?1398360913
Blank
The_beat_goes_on
TX