Overview
Mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA is a rare genetic condition caused by an extra copy (duplication) of a segment of mitochondrial DNA — the genetic material found inside the tiny energy-producing structures in your cells called mitochondria. This condition is also sometimes referred to as mtDNA duplication syndrome or large-scale mtDNA duplication disorder. Because mitochondria are responsible for producing energy in nearly every cell of the body, a duplication in their DNA can disrupt how well cells make energy, leading to problems in many organs and tissues. The condition most commonly affects organs and tissues that need a lot of energy, such as the brain, muscles, heart, eyes, and ears. Symptoms can vary widely from person to person depending on how many mitochondria carry the duplication and which tissues are affected. Common problems include muscle weakness, poor coordination, vision and hearing loss, heart problems, and developmental delays. There is currently no cure for this condition. Treatment focuses on managing symptoms, supporting affected organ systems, and improving quality of life. A team of specialists is usually needed to provide the best care. This condition is listed as 'obsolete' in some medical databases, meaning it may now be classified under broader mitochondrial disease categories, but the underlying biology and patient experience remain the same.
Also known as:
Key symptoms:
Muscle weakness or poor muscle toneFatigue and low energyProblems with balance and coordinationVision loss or eye movement problems (such as drooping eyelids)Hearing lossHeart muscle disease (cardiomyopathy) or irregular heartbeatDevelopmental delays or intellectual disabilitySeizuresDiabetesKidney problemsDifficulty swallowing or feeding problemsShort stature or poor growthLiver problems
Mitochondrial
Passed from mother to child through the energy-producing parts of the cell
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for OBSOLETE: Mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA.
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Specialists
View all specialists →No specialists are currently listed for OBSOLETE: Mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to OBSOLETE: Mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.Which organs are currently affected in my case, and how will we monitor them over time?,What supplements or medications do you recommend, and what is the evidence that they help?,Are there any medications or treatments I should avoid because they could harm my mitochondria?,What signs or symptoms should prompt me to go to the emergency room?,Are there any clinical trials or research studies I might be eligible for?,What does this diagnosis mean for other family members, and should they be tested?,What therapies — such as physical, occupational, or speech therapy — would benefit me most right now?
Common questions about OBSOLETE: Mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA
What is OBSOLETE: Mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA?
Mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA is a rare genetic condition caused by an extra copy (duplication) of a segment of mitochondrial DNA — the genetic material found inside the tiny energy-producing structures in your cells called mitochondria. This condition is also sometimes referred to as mtDNA duplication syndrome or large-scale mtDNA duplication disorder. Because mitochondria are responsible for producing energy in nearly every cell of the body, a duplication in their DNA can disrupt how well cells make energy, leading to problems in m
How is OBSOLETE: Mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA inherited?
OBSOLETE: Mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA follows a mitochondrial inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.