Eight years after the first description of mitochondrial DNA mutations
in neuromuscular syndromes, the relatively unknown field of mitochond
rial disorders has become a major topic not only in neurology, but in
various other fields of medicine. Dozens of mitochondrial DNA mutation
s have been associated with neuromuscular, ophthalmologic, endocrinolo
gic, gastrointestinal, and even psychiatric disorders. In addition, po
tentially pathogenic mutations in mitochondrial DNA have also been ide
ntified in normal aging and age-related neurodegenerative disorders. D
espite the wealth of information and insights gathered, treatment is s
till tentative.