Living with Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
A rare mitochondrial muscle condition with severe muscle weakness in newborns that improves on its own by early childhood.
Understanding Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
It causes a severe muscle disease in the newborn period to early infancy. Muscle function then markedly improves on its own by early childhood. Blood tests show lactic acid buildup and a temporary drop in the activity of a key energy-making step in cells.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Muscle disease (myopathy)
- Muscle weakness
- Low muscle tone (hypotonia)
- Breathing difficulties
- Decreased reflexes
- Abnormal muscle fibers seen on a biopsy
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.
- 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
- 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: benign cox deficiency; cox deficiency myopathy, infantile, transient; infantile reversible cytochrome c oxidase deficiency myopathy; mitochondrial myopathy with reversible complex iv deficiency; mitochondrial myopathy with reversible cox deficiency; mitochondrial myopathy, infantile, transient
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 myopathy with reversible cytochrome C oxidase deficiency.
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