Mitochondrial genetic disorders refer to a group of conditions that affect the mitochondria (the structures in each cell of the body that are responsible for making energy). People with these conditions can present at any age with almost any affected body system; however, the brain, muscles, heart, liver, nerves, eyes, ears and kidneys are the organs and tissues most commonly affected. Symptom severity can also vary widely. ]Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy. Those caused by mutations in mitochondrial DNA are transmitted by maternal inheritance, while those caused by mutations in nuclear DNA may follow an autosomal dominant, autosomal recessive, or X-linked pattern of inheritance. Treatment varies based on the specific type of condition and the signs and symptoms present in each person.
People with mitochondrial genetic disorders can present at any age with almost any affected body system. While some conditions may only affect a single organ, many involve multiple organ systems including the brain, muscles, heart, liver, nerves, eyes, ears and/or kidneys. Symptom severity can also vary widely. The most common signs and symptoms include:
- Poor growth
- Loss of muscle coordination
- Muscle weakness
- Seizures
- Autism
- Problems with vision and/or hearing
- Developmental delay
- Learning disabilities
- Heart, liver, and/or kidney disease
- Gastrointestinal disorders
- Diabetes
- Increased risk of infection
- Thyroid and/or adrenal abnormalities
- Autonomic dysfunction
- Dementia
For more information on mitochondrial genetic disorders, visit Genetic and Rare Diseases (GARD) Information Center.
To learn more about rare genetic diseases, visit https://checkrare.com/diseases/congenital-and-genetic-conditions/
