Overview
Mitochondrial DNA maintenance syndrome is a group of rare genetic disorders that affect the body's ability to properly copy and maintain mitochondrial DNA (mtDNA). Mitochondria are tiny structures inside nearly every cell that produce the energy your body needs to function. Each mitochondrion has its own small set of DNA, and your cells must constantly make new copies of this DNA to keep energy production running smoothly. In these syndromes, mutations in nuclear genes (the DNA in the cell's main nucleus) cause problems with the machinery that copies or maintains mitochondrial DNA. This leads to either a reduction in the amount of mitochondrial DNA (called mtDNA depletion) or the accumulation of errors and deletions in mitochondrial DNA. Because mitochondria supply energy to virtually every organ, symptoms can affect many parts of the body. Commonly affected organs include the brain, muscles, liver, kidneys, and eyes. Patients may experience muscle weakness, fatigue, seizures, developmental delays, difficulty with movement and coordination, liver failure, hearing loss, and vision problems. The severity and specific symptoms vary widely depending on which gene is affected and which organs are most involved. There is currently no cure for mitochondrial DNA maintenance syndromes. Treatment focuses on managing symptoms and supporting organ function. This may include physical therapy, nutritional support, seizure medications, and careful monitoring of organ health. Some patients benefit from supplements like coenzyme Q10 or certain vitamins, though evidence for these is limited. Research into gene therapy and other targeted treatments is ongoing, offering hope for future options.
Also known as:
Key symptoms:
Severe muscle weaknessExtreme fatigue and low energySeizures or epilepsyDevelopmental delays or regression of skillsDifficulty with balance and coordinationDrooping eyelids and difficulty moving the eyesHearing lossVision problemsLiver dysfunction or liver failureDifficulty swallowing or feeding problemsFailure to grow and gain weight normallyBreathing difficultiesNumbness or tingling in hands and feetGastrointestinal problems such as vomiting or constipationKidney problems
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Variable
Can begin at different ages, from infancy through adulthood
Treatments
1 availableBavencio
BAVENCIO is indicated for the maintenance treatment of patients with locally advanced or metastatic urothelial carcinoma (UC) that has not progressed with first-line platinum-containing chemotherapy
Clinical Trials
View all trials with filters →No actively recruiting trials found for Mitochondrial DNA maintenance syndrome at this time.
New trials open frequently. Follow this disease to get notified.
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
Financial Resources
1 resourcesTravel Grants
No travel grants are currently matched to Mitochondrial DNA maintenance syndrome.
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 specific gene is causing my (or my child's) condition, and what does that mean for the expected disease course?,Are there any medications or substances we must strictly avoid?,What symptoms should prompt us to go to the emergency room immediately?,Are there any clinical trials or experimental treatments available for this specific type?,How often should we have follow-up testing for the liver, heart, eyes, and hearing?,Should other family members be tested, and what are the chances of this happening in future pregnancies?,What supportive therapies and supplements might help, and what is the evidence behind them?
Common questions about Mitochondrial DNA maintenance syndrome
What is Mitochondrial DNA maintenance syndrome?
Mitochondrial DNA maintenance syndrome is a group of rare genetic disorders that affect the body's ability to properly copy and maintain mitochondrial DNA (mtDNA). Mitochondria are tiny structures inside nearly every cell that produce the energy your body needs to function. Each mitochondrion has its own small set of DNA, and your cells must constantly make new copies of this DNA to keep energy production running smoothly. In these syndromes, mutations in nuclear genes (the DNA in the cell's main nucleus) cause problems with the machinery that copies or maintains mitochondrial DNA. This leads
How is Mitochondrial DNA maintenance syndrome inherited?
Mitochondrial DNA maintenance syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
Which specialists treat Mitochondrial DNA maintenance syndrome?
1 specialists and care centers treating Mitochondrial DNA maintenance syndrome are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.
What treatment and support options exist for Mitochondrial DNA maintenance syndrome?
1 patient support program are currently tracked on UniteRare for Mitochondrial DNA maintenance syndrome. See the treatments and support programs sections for copay assistance, eligibility, and contact details.