Living with Combined oxidative phosphorylation defect type 21
A rare mitochondrial condition in newborns with developmental delay, mixed muscle tone and brain differences on imaging.
Understanding Combined oxidative phosphorylation defect type 21
People have low tone in the trunk but stiff arms and legs, developmental delay and high lactate levels in the blood. Brain scans may show a thin corpus callosum or spots in the globus pallidus. Muscle tissue shows low activity of energy-making complexes, but not skin or liver cells.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Global developmental delay
- Low tone in the trunk, stiff arms and legs
- Seizures
- Shrinking of brain tissue (cerebral atrophy)
- Thin corpus callosum
- Poor eye contact
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 brain and nervous system specialists and genetic specialists.
- 3Consider genetic testing
Changes in TARS2 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
- Brain and nervous system specialists (neurologists); 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 TARS2 gene are listed. GARD lists autosomal recessive and mitochondrial inheritance.
Also known as: combined oxidative phosphorylation deficiency 21; combined oxidative phosphorylation deficiency caused by mutation in tars2; combined oxidative phosphorylation deficiency type 21; coxpd21; coxpd21 - combined oxidative phosphorylation defect type 21; tars2 combined oxidative phosphorylation deficiency
Patient organizations
- CureARSCombined oxidative phosphorylation defect type 21 · 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 21.
Explore research for Combined oxidative phosphorylation defect type 21
Explore actively recruiting Combined oxidative phosphorylation defect type 21 studies with HealthSpark.
Find actively recruiting studies for Combined oxidative phosphorylation defect type 21 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 21 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 21
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 21 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.