Will I know the type of disease?

There are over 100 known types of this disease. Each is caused by a specific change (mutation) in the genetic material of the mitochondria. When a mutation is discovered, it is given a name and a number. The number describes the position of the mutation on the mitochondrial DNA.

Here are some types of mitochondrial diseases and the mutations associated with them.

Hundreds more mutations are possible, but have not yet been discovered. Most people with Mitochondrial disease never know their specific mutation.

This can be upsetting if you are planning a family, as we may not know exactly how the disease will affect future generations.


The specialist will tell you the name of your child’s disease

and the specific mutation, if known.


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