mitochondrial disease in children , symptoms and treatments
mitochondrial disease in children is a chronic, genetic disorder that occurs when the cell’s powerhouses, the mitochondria, fail to produce enough energy for cell and organ function. Mitochondria are found in every cell of the body and are required for life to exist.
Symptoms
- Fatigue
- Muscle weakness
- Exercise intolerance
- Pain
- Delayed growth and development
- Seizures
- Heart problems
- Liver problems
- Kidney problems
- Digestive problems
- Vision problems
- Hearing problems
- Learning disabilities
Causes
Mutations in either nuclear or mitochondrial DNA can result in mitochondrial disease. Nuclear DNA is found in the cell’s nucleus, whereas mitochondrial DNA is found inside the mitochondria.
Mutations in nuclear DNA can affect the production of proteins involved in mitochondrial function. Mutations in mitochondrial DNA can affect the genes that encode proteins required for mitochondrial function.
Mitochondrial disease diagnosed
- Physical exam
- Medical history
- Blood tests
- Urine tests
- Imaging tests
- Muscle biopsy
- Genetic testing
Treatment
- Medications
- Physical therapy
- Occupational therapy
- Speech therapy
- Surgery
