Mitochondria are small, energy-producing structures in cells. The mitochondria are sometimes called the power plants of cells because they produce most of the energy your body needs to function. A mitochondrial disorder occurs when there is damage to the mitochondria, which depletes the cells’ energy.
Mitochondrial disorders vary in severity and age of onset from one person to the next. They can present at any point in life, though they generally first cause symptoms in childhood. If your child has a mitochondrial disorder, the brain, muscles and gastrointestinal (GI) tract will most likely be affected because each of these body parts require high amounts of energy to function properly, though virtually any organ system can be affected. Mitochondrial disorders may be inherited in a number of ways, but the exact pattern in a given family may be difficult to determine.
Some symptoms of mitochondrial disorders include:
- Abdominal distention
- Blindness
- Cardiomyopathy
- Deafness
- Dementia
- Developmental delay
- Feeding problems
- Frequent infections
- Heart rhythm problems
- Increased fatigue
- Low muscle tone
- Migraine headaches
- Muscle weakness
- Nausea
- Seizures
- Severe constipation
- Sleep apnea
- Stroke-like symptoms
- Trouble moving the eyes
- Vomiting
Patients do not typically experience all of these symptoms. The most common symptoms are fatigue, low muscle tone, developmental delay and GI problems.
Diagnosis of Mitochondrial Disorders
The following exams and tests may be used to help determine if your child has a mitochondrial disorder:
- Physical exam
- Blood tests to determine elevated lactic acid or other biochemical abnormalities
- Specific mitochondrial and/or nuclear gene testing
- Magnetic resonance imaging (MRI) scan of the brain
- Electrocardiogram and echocardiogram
- Eye exam
- Neurological evaluation
- Hearing test
Treatments
Treatments
There is no cure for mitochondrial disorders. However, treatment may help reduce symptoms and slow down the long-term decline in health. Your child's doctor may recommend avoiding certain types of medicines that may increase symptoms, such as sedation medication. In addition, supplements such as carnitine and/or coenzyme Q are often prescribed to help control the symptoms caused by a mitochondrial disorder. Doctors hope to improve a patient's quality of life by managing symptoms with these treatment methods.
Key Points to Remember
Key Points to Remember
- A mitochondrial disorder occurs when there is damage to the mitochondria which depletes the cells’ energy and, therefore, depletes the body’s energy.
- Most mitochondrial disorders affect the brain, muscles and GI tract, but other organs can be affected.
- There is no cure for mitochondrial disorders. However, treatment with certain medicines may help improve symptoms.
Support Services & Resources
Support Services & Resources
Visit the following websites to learn more about how mitochondrial disorders are diagnosed and treated.
Riley at IU Health offers a broad range of supportive services to make life better for families who choose us for their children's care.
This online resource from the U.S. National Library of Medicine provides more information about mitochondrial disorders.
The United Mitochondrial Disease Foundation offers support and information and promotes research for the cure and treatment of mitochondrial disorders.
Locations
Locations
Locations
In addition to our primary hospital location at the Academic Health Center in Indianapolis, IN, we have convenient locations to better serve our communities throughout the state.
Sort through 3 facilities offering Mitochondrial Disorders care by entering your city or zip below.