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Things you need to know about mitochondrial disease

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What are mitochondria? Mitochondria are the powerhouses of the cells. If there is a problem with mitochondria, it can wreak havoc on the body.

Mitochondrial disease is it on that includes hundreds of conditions that produce a very wide range of symptoms. These conditions are very rare and they are seen between one in 2500 to 1 in 8500 people.

What is mitochondrial disease?

Mitochondrial diseases are health problems caused by mutations in DNA. These mutations can either be inherited from both parents or may arise after conception. Some of these disorders may affect one organ, while others may affect groups of organs. 

These diseases can affect almost any part of the body such as the cells of the brain, muscles, nerves, heart, kidneys, liver, eyes, ears, or pancreas.

These diseases prevent the mitochondria from making enough energy for the body cells. These mitochondrial diseases can be present at birth or they may develop later in life. The symptoms of these diseases are wide-ranging from seizures to breathing difficulty to poor vision to organ failure.

What causes mitochondrial disease?

In most people, the primary mitochondrial disease is a genetic condition that is generally inherited. A child that suffers from my mitochondrial disease does not receive a normal pair of jeans from the parents. The child receives a mutated or defective gene.


Even though symptoms of mitochondrial disease is more vary a lot depending on which cells of the body are affected, there are some commonly seen symptoms present. The symptoms can range from mild to severe and can involve one or more organs and can occur at any age.

Symptoms of the mitochondrial disease may include “

  • Poor growth 
  • Muscle weakness, muscle pain, low muscle tone
  • Vision and hearing problems
  • Learning disabilities
  • Delays in development
  • Autism spectrum disorder
  • Heart, liver or kidney diseases
  • Gastrointestinal disorders, swallowing difficulties, diarrhea or constipation
  • Diabetes
  • Increased risk of infection
  • Neurological problems, seizures, migraines, strokes
  • Movement disorders
  • Thyroid problems
  • Dementia
  • Respiratory problems
  • Lactic acidosis


Mitochondrial disease is difficult to diagnose. It is more difficult to diagnose in children. Mitochondrial diseases include different diseases with many symptoms and the symptoms can vary widely from person to person. Various conditions may also mimic other diseases. That is why it is very difficult to diagnose such diseases. These diseases are often mistaken for autism, ALS, muscular dystrophy, and Alzheimer's disease.

Your doctor may suspect your condition as a mitochondrial disease. In that case, the doctor will use family history, DNA tests, imaging studies such as MRI or city, bloodwork and other tests, and even procedures such as muscle biopsies and EKGs To confirm the diagnosis.

How is it treated?

Mitochondrial disease has no cure. However, symptoms such as Caesars or attention problems can be managed. Like the disease, treatments are also varied. Since with mitochondrial diseases, the doctor is treating many conditions, the treatment options are also different for different conditions and patients. Some treatments that work well for one disease may not work at all for another.

Exercise is a recommendation for all people who can perform exercises. Exercise can help you manage the conditions better. Till now no drugs are proven to help treat disorders but supplements such as can coQ10, L-carnitine, L-arginine, and creatine definitely help.