Living with Combined oxidative phosphorylation deficiency 29
A rare mitochondrial condition starting in infancy with small head size, developmental delay, hard-to-treat seizures and vision problems.
Understanding Combined oxidative phosphorylation deficiency 29
Features include a small head, severe developmental delay, stiff and twisting movements, and seizures that are hard to treat. Optic nerve damage, problems with automatic body functions and nerve damage in the limbs also occur. Brain scans show shrinking of the cerebellum and delayed myelin growth.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Severe global developmental delay
- Small head size (primary microcephaly)
- Seizures
- Optic nerve damage
- Poor coordination
- Digestive movement problems and tube feeding in infancy
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 TXN2 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 United Mitochondrial Disease Foundation 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 TXN2 gene are listed. GARD lists autosomal recessive and mitochondrial inheritance.
Also known as: combined oxidative phosphorylation defect type 29; combined oxidative phosphorylation deficiency 29; coxpd29; combined oxidative phosphorylation deficiency caused by mutation in txn2; combined oxidative phosphorylation deficiency type 29; coxpd29
Patient organizations
- United Mitochondrial Disease FoundationMitochondrial diseases · United States
- MitoActionMitochondrial diseases · United States
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Perspectives from people navigating life with Combined oxidative phosphorylation deficiency 29.
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