Living with Combined oxidative phosphorylation defect type 8
A rare mitochondrial condition in newborns and infants with severe thickened heart muscle, weak muscles and underdeveloped lungs.
Understanding Combined oxidative phosphorylation defect type 8
Energy-making complexes are low in heart muscle, skeletal muscle and brain. This leads to severe thickened heart muscle (hypertrophic cardiomyopathy), poorly developed lungs, general muscle weakness and nervous system involvement. It starts in newborns and infants.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Thickened, enlarged heart (hypertrophic cardiomyopathy)
- Heart failure
- Poorly developed lungs (pulmonary hypoplasia)
- Generalized muscle weakness
- Feeding difficulties and slow weight gain
- Delayed motor skills
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include genetic specialists.
- 3Consider genetic testing
Changes in AARS2 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
United Mitochondrial Disease Foundation and MitoAction may keep lists of experts for this condition.
Care & treatment
- Care team
- Genetic specialists (geneticists)
- Expert care
- Expert lists: United Mitochondrial Disease Foundation, MitoAction
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with CureARS and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the AARS2 gene are listed. GARD lists autosomal recessive and mitochondrial inheritance.
Also known as: aars2 combined oxidative phosphorylation deficiency; cardiomyopathy, hypertrophic mitochondrial, fatal infantile; combined oxidative phosphorylation deficiency caused by mutation in aars2; combined oxidative phosphorylation deficiency type 8; coxpd8; coxpd8 - combined oxidative phosphorylation defect type 8
Patient organizations
- CureARSCombined oxidative phosphorylation defect type 8 · United States
- United Mitochondrial Disease FoundationMitochondrial diseases · United States
- MitoActionMitochondrial diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Combined oxidative phosphorylation defect type 8.
Explore research for Combined oxidative phosphorylation defect type 8
Explore actively recruiting Combined oxidative phosphorylation defect type 8 studies with HealthSpark.
Find actively recruiting studies for Combined oxidative phosphorylation defect type 8 with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Combined oxidative phosphorylation defect type 8 studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Combined oxidative phosphorylation defect type 8
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Combined oxidative phosphorylation defect type 8 experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.