Mitochondrial Disease – An underestimated medical enigma – incidence 1 in 250 - GP’s need to know!!

Mitochondrial Disease began this century with the belief it was a rare (1 in 20,000) medical disorder never to be seen by most clinicians, but now the latest studies show consistent incidences of 1 in 200-250 people (100,000 Australians). Many are undiagnosed, misdiagnosed, will develop the disease themselves, or pass it onto their children. It is a progressive genetic disorder affecting both males and females of all ages. With very few effective treatments, and no known cure for the great majority of patients, it can be fatal in its severest forms.
Mitochondrial Disease is extremely difficult to diagnose and treat due to the symptoms being so widespread in type (muscle weakness and pain, loss of motor and nerve control, hearing or vision loss, seizures, strokes, developmental delays, dementia, poor growth, diabetes, heart disease, gastrointestinal disorders, swallowing difficulties) and severity in the nearly 100 known sub-groups. In this seminar, participants will gain an understanding of which patients are being missed, a confidence in whom we should consider a mitochondrial diagnosis, beginning the appropriate
investigations, and a brief overview of current treatment modalities.

A/Prof Carolyn Sue 

Supported by Australian Mitochondrial Disease Foundation