Overview
Mitochondrial disorders can affect any organ but especially the brain, muscles, heart and eyes. Symptoms vary widely, even within the same family.
Symptoms
- Muscle weakness and exercise intolerance
- Poor growth and developmental delay
- Seizures
- Vision and hearing problems
- Heart and liver problems
- Diabetes
Causes and risk factors
They are caused by changes in mitochondrial or nuclear DNA and can be inherited from the mother or from both parents.
Diagnosis
Diagnosis uses blood and urine tests, muscle biopsy, brain imaging and genetic testing.
Treatment
There is no cure. Treatment focuses on symptoms and may include supplements, physiotherapy, managing seizures and heart problems, and avoiding triggers such as fasting.
When to see a doctor
See a doctor if a child has unexplained weakness, developmental delay or multiple organ problems.
This information is for general education and does not replace advice from a qualified doctor. For a medical emergency, call +92-51-8446666 or go to the nearest emergency department.
