In the majority of cases no other family members are affected and there is little risk of patients passing the condition on to their children. However, there are exceptions and genetic counselling is required. Most patients require a muscle biopsy. Under the microscope a rather typical pattern of adnormalities can be seen. Sometimes, more detailed tests are required, including exercising the patient and looking at chemical changes in the blood.
Future advances Mitochondrial disorders are the subject of extensive research activity.
In the last few years alone, this has greatly expanded our understanding of them, made diagnosis easier and helped with genetic counselling. So far, these advances have not led to specific treatment, but there is considerable hope that this situation will change in the not too distant future.