Overview
Syndromic sensorineural deafness due to combined oxidative phosphorylation defect is a very rare genetic condition that affects the body's ability to produce energy at the cellular level. The disease is caused by problems in the mitochondria, which are the tiny power plants inside every cell that generate the energy your body needs to function. When these mitochondria don't work properly, it leads to a "combined oxidative phosphorylation defect," meaning multiple parts of the energy-producing machinery are impaired at the same time. The hallmark feature of this condition is sensorineural hearing loss, which means the inner ear or the nerve pathways from the inner ear to the brain are damaged, leading to deafness. Because this is a "syndromic" form, the hearing loss occurs alongside other symptoms affecting multiple organ systems. Patients may experience neurological problems such as developmental delay, muscle weakness, seizures, and movement difficulties. Other organs with high energy demands — such as the heart, eyes, liver, and kidneys — may also be affected. There is currently no cure for this condition. Treatment focuses on managing individual symptoms and supporting quality of life. This may include hearing aids or cochlear implants for hearing loss, physical therapy for muscle weakness, anti-seizure medications, and nutritional supplements that aim to support mitochondrial function. A team of specialists is typically needed to provide comprehensive care. Early diagnosis and intervention can help improve outcomes, particularly for hearing and developmental milestones.
Also known as:
Key symptoms:
Hearing loss present from birth or early infancyMuscle weakness and low muscle toneDevelopmental delay or intellectual disabilitySeizures or epilepsyPoor growth and failure to thriveDifficulty with balance and coordinationVision problemsHeart problems such as cardiomyopathyFatigue and low energy levelsDifficulty feeding in infancyLiver dysfunctionKidney problemsLactic acidosis (buildup of lactic acid in the blood)Breathing difficultiesMovement disorders
Variable
Can be inherited in different ways depending on the underlying gene
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for Syndromic sensorineural deafness due to combined oxidative phosphorylation defect.
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Specialists
View all specialists →No specialists are currently listed for Syndromic sensorineural deafness due to 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 Syndromic sensorineural deafness due to combined oxidative phosphorylation defect.
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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.What specific genetic mutation is causing my child's condition, and does it affect the prognosis?,Which organs should we monitor most closely, and how often should screening tests be done?,Would cochlear implants be appropriate for my child's type of hearing loss?,What supplements or medications might help support mitochondrial function?,What should I do if my child becomes sick — is there an emergency protocol we should follow?,Are there any clinical trials or new treatments being studied that my child might be eligible for?,What developmental therapies and educational supports do you recommend?
Common questions about Syndromic sensorineural deafness due to combined oxidative phosphorylation defect
What is Syndromic sensorineural deafness due to combined oxidative phosphorylation defect?
Syndromic sensorineural deafness due to combined oxidative phosphorylation defect is a very rare genetic condition that affects the body's ability to produce energy at the cellular level. The disease is caused by problems in the mitochondria, which are the tiny power plants inside every cell that generate the energy your body needs to function. When these mitochondria don't work properly, it leads to a "combined oxidative phosphorylation defect," meaning multiple parts of the energy-producing machinery are impaired at the same time. The hallmark feature of this condition is sensorineural hear
At what age does Syndromic sensorineural deafness due to combined oxidative phosphorylation defect typically begin?
Typical onset of Syndromic sensorineural deafness due to combined oxidative phosphorylation defect is infantile. Age of onset can vary across affected individuals.