Living with Combined oxidative phosphorylation defect type 26
A rare mitochondrial condition with a wide range, from tiring easily and muscle weakness to developmental delay in infancy.
Understanding Combined oxidative phosphorylation defect type 26
It varies a lot. Some people have trouble exercising, shortness of breath with effort, muscle weakness, stiffness and nerve problems, without learning or heart problems. Others have global developmental delay, slow growth, low muscle tone and stiffness. More severe cases may include thickened heart muscle, optic nerve changes or seizures. It starts in infancy or childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Trouble exercising and shortness of breath with effort
- Global developmental delay
- Feeding difficulties and slow weight gain
- Thickened heart muscle (hypertrophic cardiomyopathy)
- Kidney filtering problems (renal tubular dysfunction)
- Difficulty standing
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 TRMT5 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 TRMT5 gene are listed. GARD lists autosomal recessive and mitochondrial inheritance.
Also known as: combined oxidative phosphorylation deficiency 26; combined oxidative phosphorylation deficiency caused by mutation in trmt5; combined oxidative phosphorylation deficiency type 26; coxpd26; coxpd26 - combined oxidative phosphorylation defect type 26; peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay
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 26.
Explore research for Combined oxidative phosphorylation defect type 26
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