Aa
Could this be a mitochondrial disorder?
Hello....it's been a long time since I posted in the neurology community. Today is the 1st day of my retirement at age 54. I can no longer perform my professional duties. I have lost 40 pounds in 1.5 years; have muscle atrophy; intense muscle cramping; joint pain in right hand especially; chronic fatigue; some cognitive trouble; neurogenic bladder with Interstim implant; heart pacemaker and now have muscle damage requiring close watch and future change in pacemaker; clonus movements from time to time; weakness in right arm and knees. Over the past 3 years, MS, ALS, Lyme's lupus, you name it has been ruled out. I will have a muscle biopsy at UVA on the 22nd. My neurologist is leaning toward a mitochondrial disorder, which is why he ordered the biopsy. The last EMG he did showed some abnormalities (in the past, it would always be normal). I'm slightly anemic, probably because I have little appetite. Can anyone out there help with some opinion/advice? Thanks so much.
Thank you once again for your information...helpful!
I am a long time patient with "mito" ... not a doctor! Pompe Disease is a glycogen storage disease so it is metabolic. There is information on the web about it and I imagine that you have done some searching. Also try searching (Pompe Disease + mitochondria).
To me ... given that you seem to have more than two body systems involved, it sounds like a Mitochondrial Disease ... but, certainly, it does sound like it is at the cellular level ,,, and both Mito and Pompe fit this descriptor.
To me ... given that you seem to have more than two body systems involved, it sounds like a Mitochondrial Disease ... but, certainly, it does sound like it is at the cellular level ,,, and both Mito and Pompe fit this descriptor.
Thank you so much for your reply. They will test on May 8 for an adult form of Pompe's disease. Your thoughts?
This is something produced by UVA which may be helpful in letting you know about types of "Mito" (Mitochondrial Disease)
MD = Muscular Dystrophy OR Mitochondrial Disease. Mitochondrial Disease comes under the umbrella of services of the Muscular Dystrophy Association. Have they told you which "rare type of MD" they say you have?
Thanks....muscle biopsy was not normal...they are looking for a rare type of MD.
EMGs are often normal in mitochondrial disorders. Fresh tissue muscle biopsies should show results ... and beyond that Medomics and Transgenomics are doing Mitochondrial DNA investigations and nuclear DNA testing is coming on stream. Check out
You must join this user group in order to participate in this discussion.
You are reading content posted in the Mitochondrial Disorders Group
A list of national and international resources and hotlines to help connect you to needed health and medical services.
Herpes sores blister, then burst, scab and heal.
Herpes spreads by oral, vaginal and anal sex.
STIs are the most common cause of genital sores.
Condoms are the most effective way to prevent HIV and STDs.
PrEP is used by people with high risk to prevent HIV infection.
