Mitochondrial diseases are a group of disorders that change the mitochondria in your body. Mitochondria are known as the energy factories or producers of the body. Therefore, when you have a mitochondrial disease, your body is not able to produce enough energy to perform necessary functions or to live a fulfilling life. While some mitochondrial diseases affect your mitochondria’s ability to produce energy, others result in a low number of mitochondria.
A lack of energy in your body due to mitochondrial disease can have serious ramifications. Every organ, from the heart and liver to the brain and lungs, relies on mitochondria to function. Therefore, when you have a mitochondrial disease, it can affect how these organs work. While there’s no cure for mitochondrial diseases, there are treatments that can ease your symptoms and help you live a normal life.
Symptoms of mitochondrial disease will vary depending on which cells and part of the body is being affected. It will also depend on which specific mitochondrial disease you have and how severe it is. Additionally, because most mitochondrial diseases are inherited, you can start showing signs during infancy or later in life as an adult. Regardless of what type of mitochondrial disease you have or when you start to display symptoms, here’s what to expect.
In addition to these symptoms, mitochondrial diseases can lead to an array of other disorders and conditions. This includes heart problems, organ failure, diabetes, dementia, an autism spectrum disorder, and others, depending on which mitochondrial cells are being affected.
Mitochondrial disease is usually a genetic condition that parents pass on to their children. It’s caused by a genetic mutation in the mtDNA that both parents have to be carriers of in order for it to get passed on to children. If only one parent is a carrier, the child will also become a carrier, but the disease won’t affect them. Recent studies have also found that some unknown environmental factors can cause mitochondrial disease.
Mitochondrial diseases are tough to diagnose because of how many different diseases there are and how they affect the body. Therefore, it’s impossible to definitively diagnose a mitochondrial disease based on symptoms alone. There also isn’t a sole diagnostic test that can conclusively confirm the presence of mitochondrial disease. Here are some of the methods your doctor might use.
A genetic blood test will check for the genetic mutation that causes mitochondrial disease.
Additional blood tests can check for markers indicating mitochondrial disease.
Certain imaging tests such as MRIs, CAT scans, and X-rays can check for organ damage.
As with a blood test, a urine test can check for genetic markers indicating mitochondrial disease.
It may also be necessary for your parents to get genetic testing as well to see if they’re carriers of the mtDNA genetic mutation.
Unfortunately, there’s no known cure for any mitochondrial disease. There are, however, certain treatments that can help with symptoms and manage the disease. Treatment will vary based on the condition you have and how severe it is, but it usually involves the following.
Many of the debilitating symptoms of mitochondrial disease have to do with weakness, fatigue, and slow development. By doing a combination of strength, cardio, and resistance exercises, you can overcome many of those deficits.
Physical therapy, occupational therapy, and energy conservation can all help manage the symptoms of mitochondrial diseases.
There are a number of important vitamins and minerals that will help increase energy and strength.