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Mitochondrial (say "my-tuh-KAWN-dree-uhl") diseases are a group of rare diseases that can be passed down from mothers to their children. The diseases happen when mitochondria don't work the way they should. Mitochondria are tiny parts of the cells in your body. They are often called the powerhouse of a cell, because one of their jobs is to make energy.
These diseases can appear at any age. And they can affect many different areas of the body.
Examples of these diseases include:
The symptoms of mitochondrial diseases depend on the type of cells that have damaged mitochondria. These cells include brain cells, muscle cells, and the cells of the eyes and ears. Other parts of the body that may be affected include the kidneys, nerves, and liver.
Symptoms can vary from person to person.
Mitochondrial disease in brain cells can cause symptoms such as:
When the disease is in muscle cells, the symptoms can include:
In the cells of the ears or eyes, mitochondrial diseases can cause:
If your doctor thinks that you have a mitochondrial disease, your doctor will do a physical examination and medical tests. Your doctor will ask questions about you and your health. You will be asked about your family's health. This is to find out if anyone else in your family has similar symptoms.
The kind of medical tests you get will depend on your symptoms and on which parts of your body are affected. Your doctor may also want you to have a genetic test.
Most family doctors don't order genetic testing. Your doctor may refer you to an Inherited Metabolic Disorders Clinic to see a medical geneticist. Medical geneticists have special training about mitochondrial diseases. They may order tests that may include a muscle biopsy and imaging tests like an MRI. The medical geneticists may make recommendations for treatment depending on the type of mitochondrial condition you have.
Your doctor may also suggest that you see a genetic counsellor. These counsellors are trained to explain the genetic test and its results, but you make the decision about whether to have the test. They also provide education and support to families with members who have birth defects or genetic conditions like mitochondrial diseases. Genetic counselling can help you understand your risk of having a child with mitochondrial disease.
Treatment usually focuses on relieving your symptoms and helping you feel better. You and your doctor will work together to find the treatment that works best for you. You may need to see a specialist or a team of specialists.
Treatment may include:
Your doctor also may suggest taking certain vitamins and supplements.
Your doctor may recommend surgery or other procedures for physical symptoms. These symptoms include drooping eyelids, cataracts, and hearing loss.
Adaptation Date: 3/1/2022
Adapted By: Alberta Health Services
Adaptation Reviewed By: Alberta Health Services
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