Leber's Mitochondrial Disease is characterized by optic neuropathy in which the patients central vision deteriorates over time. Other Mitochondrial diseases typically cause poor growth, muscle weakness/pain, learning disabilities/autism, diabetes, gastrointestinal problems, seizures. High blood pressure an anxiety/depression are not associated with Mitochondrial Disease.
Answered 6/8/2021
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it is not clear what kind of genetic testing this patient has had. Was mitochondrial DNA done? Mitochondrial mutations are maternally inherited but there is heteroplasmy, so not all mitochondrial in all cells have the same mutation. There can be many symptoms associated with Leber's, but they can be also seen in other conditions.
Answered 6/9/2021
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