Living with Mitochondrial complex IV deficiency, nuclear-type
A genetic condition (cytochrome c oxidase deficiency) that can affect the muscles, heart, brain, and liver, with symptoms from mild to severe.
Understanding Mitochondrial complex IV deficiency, nuclear-type
Signs usually begin before age 2 but can appear later in mildly affected people. Severity varies, even within the same family. Mild cases may involve only muscle weakness and low muscle tone. More severe cases involve several body systems, such as brain and muscle disease. About a quarter have thickened heart muscle, and some have an enlarged liver. Many people have a group of features known as Leigh syndrome.
Signs & symptoms
GARD doesn't list a set of most common symptoms for this condition. Its summary describes these features:
- Muscle weakness (myopathy)
- Low muscle tone (hypotonia)
- Thickened heart muscle (hypertrophic cardiomyopathy)
- Enlarged liver (hepatomegaly)
- Lactic acid buildup in the body
- Leigh syndrome features, such as movement problems and eating difficulties
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.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 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 genes (also called variants) cause this condition. GARD lists mitochondrial inheritance but does not name a gene in this record.
Also known as: cytochrome c oxidase deficiency; cytochrome-c oxidase deficiency; cytochrome-c oxidase deficiency disease; isolated cox (cytochrome c oxidase) deficiency; isolated cox deficiency; isolated cytochrome c oxidase 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 Mitochondrial complex IV deficiency, nuclear-type.
Explore research for Mitochondrial complex IV deficiency, nuclear-type
Explore actively recruiting Mitochondrial complex IV deficiency, nuclear-type studies with HealthSpark.
Find actively recruiting studies for Mitochondrial complex IV deficiency, nuclear-type 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 Mitochondrial complex IV deficiency, nuclear-type 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 Mitochondrial complex IV deficiency, nuclear-type
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 Mitochondrial complex IV deficiency, nuclear-type 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.