Publication at First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine |
2023
Abstract
Friedreich's ataxia is an autosomal recessive genetic disorder caused by mutations in the FXN gene. Our presentation focuses on the clinical picture of Friedreich's ataxia, particularly its progressive neurological symptoms like ataxia, dysarthria, and muscle weakness.
We discuss mitochondrial pathophysiology and the multisystem impact of the disease, presenting patient registry data. We also cover the development of new therapeutic approaches, including gene and biological treatments.
A key focus is omaveloxolone, the first symptomatic drug for Friedreich's ataxia approved by the U.S. FDA, available in the USA since July 2023, representing a significant advancement in targeting key symptoms and improving patient quality of life.