What's Inside


Ataxia Home

  Home > About Ataxia > Hereditary Ataxia > Mitochondrial Ataxias
 

Mitochondrial Ataxias

Mitochondrial ataxias are caused by problems in the mitochondria (the energy factories in our cells). Mitochondria have their own set of DNA that is kept separate from the rest of the genes in our genome. Mutations in this mitochondrial DNA are usually passed from women to all of their children. Mitochondria also use some genes in our regular genome and these conditions are passed in an autosomal dominant or autosomal recessive manner. Mitochondrial diseases can be very difficult to diagnose because they can have such variable symptoms. The diagnosis is often made by performing a muscle biopsy to look for evidence that the mitochondria are not working in the muscle. Some of the dominant and recessive conditions that affect mitochondria were described in other sections (POLG1, OPA1). In order to diagnose diseases caused by changes in the mitochondrial genes, we need to look at the actual DNA in the mitochondria. There are many mitochondrial diseases that include ataxia as a symptom or feature.


Notice of Privacy Practices