Many family physicians are not familiar with mitochondrial disease. This lack of knowledge often results in a long and indirect journey to diagnosis.

The diagnostic process usually includes the following steps:

  • physician takes your medical history
  • a thorough physical evaluation is completed
  • strength and endurance are measured
  • a series of specialized tests may be ordered

Every patient’s journey is unique. If you suspect mitochondrial disease, ask your health team if they have considered it and explain why you would like it to be considered.

Scientists are identifying many genetic mutations that cause mitochondrial disease. This means that, in the future, diagnostic tests may better predict who is most at risk. Hopefully the onset of mitochondrial disease can be prevented and safe and effective treatments can be introduced. Understanding and identification of mitochondrial disease is the key to healthier futures.