DISEASE SCANNER
Global Incurable Diseases Tracker
Mitochondrial Disease
A group of disorders caused by dysfunction of mitochondria, the cell's energy-producing organelles. Can affect any organ system. Extremely heterogeneous presentation. Can be caused by mitochondrial DNA or nuclear DNA mutations.
1.5M
15
Symptoms
Treatment Options
Risk Factors
Diagnostic Methods
- 1Genetic testing
- 2Clinical evaluation
- 3Family history assessment
- 4Specialized laboratory tests
- 5Imaging studies
- 6Biopsy (if applicable)
Prognosis
Extremely variable by specific mutation and tissue involvement. Progressive course with multi-system involvement typical. Some patients have relatively stable course for years. Supportive care for specific manifestations (seizures, diabetes, cardiac disease). Exercise intolerance common. Avoidance of mitochondrial toxins (valproate, certain antibiotics) important. Coenzyme Q10 and other supplements have limited evidence. Genetic counseling for maternal or Mendelian inheritance depending on mutation.
Prevention
- Genetic counseling
- Carrier screening
- Prenatal diagnosis
- Preimplantation genetic diagnosis
- Family planning
Research Status
Supportive care and symptom management. Coenzyme Q10, L-carnitine, B-vitamins sometimes helpful. Avoidance of mitochondrial toxins. No curative treatment. Gene therapy and mitochondrial replacement research ongoing.
Affected Countries
Sources
- https://www.ncbi.nlm.nih.gov/books/NBK1116
- https://medlineplus.gov/genetics
- https://rarediseases.org
Medical Disclaimer
This information is for educational purposes only. Always consult healthcare professionals for medical advice, diagnosis, and treatment.