Neurológia pre prax 6/2013

Mitochondrial syndromes with nervous system damage

Diseases with nervous system involvement caused by impaired mitochondrial function include a wide range of types of inheritance, damage to individual parts of the nervous system in combination with manifestations of dysfunction of other systems with high demands for energy supply. The approach to classifying mitochondrial disease can be primarily based on the clinical presentation, the type of biochemical damage, or the type of genetic damage. The paper describes mitochondrial disease syndromes, i.e. diseases whose phenotypic presentation forms a coherent syndrome. Diagnosing these diseases, in addition to taking into account the history and clinical presentation, involves genetic elucidation of the present defect as well as identification of changes at a microscopic and biochemical level. Currently, no effective causal therapy is available in the vast majority of these conditions. Correct diagnosis, however, creates the precondition for the use of effective treatment the perspective of which is in sight in the near future.

Keywords: mitochondria, encephalomyopathy, respiratory chain, maternal inheritance.