A 26-year-old female asked:
If my aunty on my mums side has lebers mitochondrial disease, would the dna show up on my report through genetic testing or could it not be present? i have a few similar symptoms but dr has put down to low b12, iron, high blood pressure, anxiety&dep?
2 doctor answers • 3 doctors weighed in
Dr. Yvette Kratzberganswered
Pediatrics 26 years experience
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 Jun 07, 2021
Dr. Ellen Eliasanswered
A US doctor answeredLearn more
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.
Reviewed Jun 09, 2021
Last updated Jun 9, 2021
People also asked
Connect with a U.S. board-certified doctor by text or video anytime, anywhere.
24/7 visits - just $44!
50% off with $15/month membership
Content on HealthTap (including answers) should not be used for medical advice, diagnosis, or treatment, and interactions on HealthTap do not create a doctor-patient relationship. Never disregard or delay professional medical advice in person because of anything on HealthTap. Call your doctor or 911 if you think you may have a medical emergency.