Symptoms & Causes
What are the symptoms of mitochondrial disease?
Symptoms of mitochondrial diseases vary based on the type and location of the affected cells. They can range from mild to severe and could include
Muscle Weakness
Muscle Pain
Muscle Weakness
Low Muscle Tone
Vision
and/or hearing loss
Developmental Delays
or issues with cognitive development
Diarrhea
Constipation
Unexplained
Vomiting
Acid Reflux
Swallowing Difficulties
Seizures
Migraines
Respiratory
(Breathing) Problems.
Fainting
Symptoms of mitochondrial diseases can be present at birth, but they can also arise at any age. A healthcare provider usually detects symptoms affecting more than one organ or organ system at the same time. Symptoms of the same disease can vary from person to person, even among family members.
What causes mitochondrial disease?
A lack of energy production from mitochondria in your cells causes mitochondrial disease. Mitochondria are responsible for producing energy within your body. When your mitochondria don’t receive the instructions they need from your body’s DNA to make energy, it can damage your cells or cause them to die early. This affects how your organs and organ systems function, which leads to symptoms of the condition.
What causes mitochondrial disease?
Mitochondrial diseases are genetic. You can inherit these conditions from your biological family in an Autosomal Dominant or Autosomal Recessive pattern. This means that you can get a changed (mutated) gene that causes this condition from one or both of your biological parents respectfully. Some cases can occur randomly (de novo) without any history of the condition in your biological family.
Certain cases of mitochondrial disease have a mitochondrial inheritance. This occurs when the mitochondria contain their own DNA. Mitochondrial conditions caused by mutations in the mitochondrial DNA are exclusively inherited from the parent Assigned Female At Birth (AFAB).
Can other conditions cause mitochondrial diseases?
Yes. Mitochondrial dysfunction occurs when mitochondria don’t work as well as they should due to another disease or condition. Many conditions can lead to secondary mitochondrial dysfunction, including
If you have secondary mitochondrial dysfunction, you don’t have a genetic mitochondrial disease.
How is a mitochondrial disease diagnosed?
A healthcare provider will diagnose a mitochondrial disease after a series of examinations and tests that may include
More advanced testing could include biochemical testing, which looks for changes in body chemicals involved in energy making. A healthcare provider may perform a biopsy where they take a sample of skin and/or muscle tissue to examine it under a microscope.
How is a mitochondrial disease diagnosed?
Yes. Because mitochondrial diseases affect so many different organs and tissues of your body, and you may have many different symptoms, mitochondrial diseases can be difficult to diagnose. There’s no single laboratory test that can diagnose a mitochondrial disease. This is why a referral to a medical facility with physicians who specialize in these diseases is critical to making the diagnosis.