Disease modifying treatment available:
Time critical diagnosis and management:
Lateralising:
None
Most people with Friedreich ataxia carry a biallelic GAA repeat expansion in the first intron of the frataxin (FXN) gene. This leads to transcriptional repression and loss of function of frataxin protein.
None
Friedreich’s ataxia may cause the following:
None
| Laboratory Investigation | Result |
|---|
Management is generally supportive.
Omaveloxolone, an NRF2 activator, has been approved for treatment in the USA and Europe following the results of the MOXIe study.
None