Questions in The Neurology Forum are being answered by doctors from The Cleveland Clinic , consistently ranked one of the best hospitals in America. My children have recently been diagnosed by Dr. Shoffner in Atlanta as having a complex one and four defect in oxidative phsophorylation.
Genetic studies are pending but it is probabale that they have mitochondrial encephalomyopathy.
My sister, at the age of 29, was diagnosed with sarcoidosis which mainly affected her neurologically. Many of her cranila nerves were affected, she was significantly weak and had poor endurance and her muscles bulk became decreased. Since that time her cranial nerve function is intact but she continues to have the other symptoms as well as asthma which is at times severe. I can not help but notice how similar her symptoms seem to my children. As well, I know my children's daignosis is accurate as Dr. Shoffner is consdiered to have such a reputable lab.