What are the signs and symptoms?

Every cell in the body, except red blood cells, contains hundreds to thousands of mitochondria working to make energy. The mitochondria in some areas of the body may be working properly, but not in other areas. This can cause a wide variety of symptoms.
There is no one identifying sign or feature of Mitochondrial disease. Symptoms can vary and range from mild to severe, even among affected family members. In mild cases, young people may learn to cope and adapt to the amount of energy they have and don’t realize they have symptoms, or adults may comment that they were very healthy as a child, but not really athletic.  

People with Mitochondrial disease often have one of more of these symptoms:  

  • developmental delay or regression in development
  • seizures
  • migraine headaches or strokes
  • muscle weakness (may be on and off)
  • poor muscle tone (hypotonia)
  • poor balance (ataxia)
  • painful muscle cramps
  • unable to keep up with peers (low endurance)
  • chronic fatigue
  • stomach problems (vomiting, heartburn, acid reflux, pain)
  • temperature problems from too little or too much sweating
  • breathing problems
  • eyes are not straight (strabismus)
  • decreased eye movement (ophthalmoplegia)
  • loss of vision or blindness
  • droopy eye lids (ptosis)
  • loss of hearing or deafness
  • heart, liver or kidney disease at a young age
  • parts of the body are shaky (tremors)

Although some of these symptoms are common in the general population, people with Mitochondrial disease are usually affected with multiple symptoms at a young age. If your child has any signs of Mitochondrial disease, see your doctor. The doctor may send your child to a specialist for further examination and testing. 

This can be a difficult step as it is the first time you realize that there is a medical problem. But getting help early can improve the chances of your child living a long and healthy life, with as few disabilities or complications as possible. It will also help you to learn as much as you can.  

These pictures show some of the symptoms of Mitochondrial disease

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