Living with Combined oxidative phosphorylation defect type 7
A rare mitochondrial condition with slow weight gain and loss of skills in childhood, plus eye, muscle and walking problems.
Understanding Combined oxidative phosphorylation defect type 7
After normal early development, infants or young children grow slowly and lose skills. Eye problems such as drooping eyelids, eye movement trouble and optic nerve changes are common. Weakness in the face and throat, low muscle tone, balance trouble and muscle wasting can occur. GARD says the disease progresses relatively slowly.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Slow weight gain (failure to thrive)
- Walking problems and stiff legs
- Optic nerve damage and vision loss
- Eye muscle paralysis (ophthalmoplegia)
- Muscle wasting and weakness
- Developmental delay
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, eye disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in MTRFR 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); Eye disease specialists (ophthalmologists); 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 MTRFR gene are listed. GARD lists autosomal recessive and mitochondrial inheritance.
Also known as: c12orf65 combined oxidative phosphorylation deficiency; combined oxidative phosphorylation deficiency caused by mutation in c12orf65; combined oxidative phosphorylation deficiency type 7; coxpd7; coxpd7 - combined oxidative phosphorylation defect type 7; severe c12orf65-related combined oxidative phosphorylation defect
Patient organizations
- 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 7.
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