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Mitochondrial disease is a chronic, progressive disorder that occurs when the mitochondria of the cell cannot produce enough energy for cell or organ function.
There are about 40 mutations in the mtDNA and 300 mutations in the nDNA that have been identified and linked to mitochondrial disease. However, it is likely there are many more that have yet to be discovered.
Estimates suggest that 1 in 4,000 people will face a diagnosis of mitochondrial disease.
Mitochondrial disease symptoms differ from person to person and can first appear in infants, children, teens, or adults. Common symptoms include poor growth, loss of muscle coordination, muscle weakness and pain, seizures, vision and/or hearing loss, gastrointestinal issues, learning disabilities, and heart, liver, or kidney failure.