Overview
C12ORF65-related combined oxidative phosphorylation defect is a rare inherited disease that affects the way cells produce energy. Every cell in the body has tiny structures called mitochondria, which act like power plants. In this condition, a faulty gene called C12ORF65 causes the mitochondria to work poorly, leading to a shortage of energy in the body's tissues — especially in the brain, muscles, and nerves. This disease is also sometimes referred to as combined oxidative phosphorylation deficiency type 18 (COXPD18). Because the brain and nervous system need a lot of energy to function, this disease most often causes problems with movement, vision, and thinking. Children with this condition may develop a form of nerve damage called peripheral neuropathy, weakness in the eye muscles (ophthalmoplegia), and a progressive brain condition similar to Leigh syndrome. Some children also experience muscle weakness, difficulty walking, and intellectual disability. There is currently no cure for this disease. Treatment focuses on managing symptoms and supporting quality of life. A team of specialists — including neurologists, metabolic geneticists, and ophthalmologists — typically work together to care for affected individuals. Some doctors use mitochondrial 'cocktails' of vitamins and supplements, though evidence for their benefit is limited. Early diagnosis and supportive care are important for the best possible outcomes.
Also known as:
Key symptoms:
Progressive muscle weaknessDifficulty walking or unsteady gaitWeakness or paralysis of eye muscles (eyes that cannot move normally)Vision problems or loss of visionIntellectual disability or learning difficultiesPeripheral neuropathy (numbness, tingling, or weakness in hands and feet)Spasticity (stiff or tight muscles)Delayed development in childhoodFatigue and low energySpeech difficultiesBrain abnormalities seen on MRI scans
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for C12ORF65-related combined oxidative phosphorylation defect.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for C12ORF65-related combined oxidative phosphorylation defect at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for C12ORF65-related combined oxidative phosphorylation defect.
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 C12ORF65-related combined oxidative phosphorylation defect.
Community
No community posts yet. Be the first to share your experience with C12ORF65-related combined oxidative phosphorylation defect.
Start the conversation →Latest news about C12ORF65-related combined oxidative phosphorylation defect
No recent news articles for C12ORF65-related combined oxidative phosphorylation defect.
Follow this condition to be notified when news becomes available.
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.What specific mutations were found in the C12ORF65 gene, and what do they mean for my child's prognosis?,Should other family members be tested for this condition?,Is a mitochondrial vitamin cocktail recommended for my child, and what evidence supports it?,What signs of worsening should prompt an emergency visit?,Are there any clinical trials or research studies my child might be eligible for?,What therapies — physical, occupational, or speech — should we start right away?,How should we plan for my child's educational and long-term care needs?
Common questions about C12ORF65-related combined oxidative phosphorylation defect
What is C12ORF65-related combined oxidative phosphorylation defect?
C12ORF65-related combined oxidative phosphorylation defect is a rare inherited disease that affects the way cells produce energy. Every cell in the body has tiny structures called mitochondria, which act like power plants. In this condition, a faulty gene called C12ORF65 causes the mitochondria to work poorly, leading to a shortage of energy in the body's tissues — especially in the brain, muscles, and nerves. This disease is also sometimes referred to as combined oxidative phosphorylation deficiency type 18 (COXPD18). Because the brain and nervous system need a lot of energy to function, thi
How is C12ORF65-related combined oxidative phosphorylation defect inherited?
C12ORF65-related combined oxidative phosphorylation defect follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does C12ORF65-related combined oxidative phosphorylation defect typically begin?
Typical onset of C12ORF65-related combined oxidative phosphorylation defect is childhood. Age of onset can vary across affected individuals.