Living with Combined oxidative phosphorylation defect type 20
A rare mitochondrial condition with developmental delay, low muscle tone, weakness, seizures and sometimes heart muscle changes.
Understanding Combined oxidative phosphorylation defect type 20
People can have a mix of developmental delay, low muscle tone, muscle weakness, seizures, small head size and heart muscle disease. Mild facial differences and brain structure differences have also been reported. It starts in infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Low muscle tone and muscle weakness
- Unsteady movement (ataxia)
- Thickened heart muscle (hypertrophic cardiomyopathy)
- Focal-onset seizures
- Drooping upper eyelids (ptosis)
- Breathing problems (respiratory insufficiency)
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 VARS2 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 VARS2 gene are listed. GARD lists autosomal recessive and mitochondrial inheritance.
Also known as: combined oxidative phosphorylation deficiency 20; combined oxidative phosphorylation deficiency caused by mutation in vars2; combined oxidative phosphorylation deficiency type 20; coxpd20; vars2 combined oxidative phosphorylation deficiency
Patient organizations
- CureARSCombined oxidative phosphorylation defect type 20 · 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 20.
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