Overview
DNA2-related mitochondrial DNA deletion syndrome is a rare genetic disorder caused by mutations in the DNA2 gene. This gene provides instructions for making a protein that helps maintain and repair mitochondrial DNA — the small circular DNA found inside mitochondria, the energy-producing structures in our cells. When the DNA2 protein does not work properly, mitochondrial DNA accumulates multiple deletions over time, which impairs the ability of cells to produce energy. This condition primarily affects muscles and the nervous system, which are tissues that require large amounts of energy. People with this syndrome typically develop progressive muscle weakness (myopathy), drooping eyelids (ptosis), and difficulty moving the eyes (progressive external ophthalmoplegia). Some individuals also experience exercise intolerance, fatigue, and may develop additional neurological symptoms. The severity and specific symptoms can vary considerably from person to person, even within the same family. There is currently no cure for DNA2-related mitochondrial DNA deletion syndrome. Treatment focuses on managing symptoms and supporting quality of life. Physical therapy, occupational therapy, and careful monitoring by a team of specialists are the main approaches. Some patients may benefit from supplements that support mitochondrial function, though evidence for their effectiveness is limited. Research into mitochondrial diseases is ongoing, and new therapeutic strategies are being explored.
Also known as:
Key symptoms:
Progressive muscle weaknessDrooping eyelids (ptosis)Difficulty moving the eyesExercise intoleranceChronic fatigueMuscle wastingDifficulty swallowingLimb weakness, especially in the legsMuscle stiffness or crampsBreathing difficulties in advanced casesGait problems or difficulty walking
Clinical phenotype terms (20)— hover any for plain English
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Adult
Begins in adulthood (age 18 or older)
Treatments
No FDA-approved treatments are currently listed for DNA2-related mitochondrial DNA deletion syndrome.
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Specialists
View all specialists →No specialists are currently listed for DNA2-related mitochondrial DNA deletion syndrome.
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 DNA2-related mitochondrial DNA deletion syndrome.
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Caregiver Resources
NORD Caregiver Resources
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Mental Health Support
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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.How quickly is this disease likely to progress in my case?,Are there any medications or substances I should avoid because they could worsen my condition?,Should I take any mitochondrial supplements like coenzyme Q10 or L-carnitine?,How often should I have my breathing and heart function checked?,What types of exercise are safe and beneficial for me?,Should my family members be tested for this genetic change?,Are there any clinical trials or research studies I could participate in?
Common questions about DNA2-related mitochondrial DNA deletion syndrome
What is DNA2-related mitochondrial DNA deletion syndrome?
DNA2-related mitochondrial DNA deletion syndrome is a rare genetic disorder caused by mutations in the DNA2 gene. This gene provides instructions for making a protein that helps maintain and repair mitochondrial DNA — the small circular DNA found inside mitochondria, the energy-producing structures in our cells. When the DNA2 protein does not work properly, mitochondrial DNA accumulates multiple deletions over time, which impairs the ability of cells to produce energy. This condition primarily affects muscles and the nervous system, which are tissues that require large amounts of energy. Peop
How is DNA2-related mitochondrial DNA deletion syndrome inherited?
DNA2-related mitochondrial DNA deletion syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does DNA2-related mitochondrial DNA deletion syndrome typically begin?
Typical onset of DNA2-related mitochondrial DNA deletion syndrome is adult. Age of onset can vary across affected individuals.