What is mito?

The diagnosis process for mitochondrial disease (mito) involves multiple steps. The increasing availability and reduced cost of genetic testing is likely to decrease the need for invasive tests (such as biopsies) and increase the number of people diagnosed through genetic testing, which is now the gold standard for mito.

A health professional will diagnose mito after a series of examinations that may include:

STEP 1

A complete review of your medical and family history.

STEP 2

A physical exam that may include:

• Blood and urine tests
• Examination of your heart’s electrical system (electrophysiology studies)
• Other heart investigations (such as echocardiogram)
• Images of the brain and other organs (such as magnetic resource imaging or MRI)
• Hearing tests
• Tissue biopsy of the muscle, skin or liver

STEP 3

• If any testing in either step one or two, suggest mito, your health professional may recommend genetic testing.

Where there is a suspicion of mito, health professionals should refer you to a mito specialist. Talk to your general practitioner and visit Maybe it’s Mito for more information. Or click here to find a mito specialist in Australia.

Mito can be hard to diagnose because:

• People with mito can experience various symptoms that may change over their lifetime, starting even before they are born and continuing into old age.^{8, 14, 17}
• People with mito can have very different symptoms even when they have the same type of mito.
• Many people with a genetic change that can cause mito don’t show any symptoms or might only have very mild symptoms.
• Even when a genetic test does not find a genetic change that is known to cause mito, this does not mean a person does not have mito. Researchers continue to discover new gene changes that can cause mito.

Experts estimate that less than half the people living with mito know they have it.¹⁵ Mito can cause various health problems, including strokes, severe developmental delays, and dementia. In Australia, over 130,000 people may carry a genetic variant that can lead to mito related symptoms — that’s one in 200 people. Some of these individuals already show symptoms, some don’t yet, and some might not realise they can pass the disease to their children.

With a clear diagnosis of mito, people can work with their health care professionals to:

• Get expert advice on diet, exercise and symptom monitoring to keep them as healthy as possible
• Create an emergency management plan to ensure that any acute illnesses, including metabolic strokes, are treated in the best possible way
• Avoid medications that can be harmful
• Avoid expensive and painful tests and treatment they don’t need
• Access new treatment options, including through clinical trials
• Explore options to avoid passing on any genetic changes to their future children

In addition, a diagnosis can:

• Help people to feel understood and validated, particularly when they have previously not been believed by some of their health professionals or others
• Help people to access government support services, including financial assistance and disability support.

The future and the journey ahead for someone diagnosed with mito is often uncertain. Mito can affect different body parts in different ways, and even people with the same genetic diagnosis can have different symptoms.

That’s why there’s no single rule that applies to everyone with mito. The best way to understand what may happen in the future is to talk with your health professional, who can provide you with personalised information. For some types of mito health professionals can provide helpful information on what a person with mito can expect. For many types of mito, not enough research has been done and little is known about life expectancy. This is often a very difficult aspect of living with mito.