Living with Combined oxidative phosphorylation defect type 15
A rare mitochondrial condition with low muscle tone, unsteady walking, developmental delay and vision problems.
Understanding Combined oxidative phosphorylation defect type 15
It begins in infancy or early childhood with low muscle tone, an unsteady walk and developmental delay, mostly affecting speech and coordination, followed by intellectual disability. Short stature, obesity, small head size and vision problems are also reported. Brain changes can match Leigh syndrome.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Unsteady walking and poor coordination (ataxia)
- Global developmental delay
- Seizures
- Eyes that do not line up (strabismus)
- Reduced vision and optic nerve changes
- Worsening neurological symptoms
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 MTFMT 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 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 MTFMT gene are listed. GARD lists autosomal recessive and mitochondrial inheritance.
Also known as: combined oxidative phosphorylation deficiency 15; combined oxidative phosphorylation deficiency caused by mutation in mtfmt; combined oxidative phosphorylation deficiency type 15; coxpd15; coxpd15 - combined oxidative phosphorylation defect type 15; mtfmt combined oxidative phosphorylation deficiency
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 15.
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