Mitochondrial medicine 30 years on: state of the art
Mitochondrial diseases are an important group of inherited metabolic disorders affecting children and adults, with an extremely wide range of clinical symptoms and an ever increasing number of genetic causes. Since the identification of the first molecular anomalies 30 years ago the clinical features and molecular basis of the main mitochondrial disorders have been deciphered. Major advances have been achieved in the diagnosis of these disorders in recent years, with the advent of improved molecular techniques.
Despite the lack of curative treatment for most mitochondrial disorders, multidisciplinary care may improve survival and quality of life of patients, and several organ dysfunctions may be treated with specific approaches. In addition, innovative therapies are now available for a few primary mitochondrial diseases, and clinical trials will probably increase in the near future.
An increased awareness of these disorders is therefore needed in order to facilitate earlier diagnosis and genetic counselling for affected families, to improve the multidisciplinary care of patients, and for clinical trial readiness. .
The aims of this teaching course are:
- To describe the pathophysiology, frequency, and clinical symptoms of the main primary mitochondrial disorders presenting in children and adults
- To describe the main diagnostic tools (exercise tests, muscle biopsy, biochemical and molecular analysis) and to discuss their respective positions in the diagnostic work-up
- Familiarizing with the differential diagnosis of mitochondrial disease
- To provide guidance for genetic counselling and reproductive options
- To describe current treatments and recommended surveillance for patients affected by primary mitochondrial disease
Please note: This teaching course has been endorsed by EURO-NMD