Neurológia pre prax 3/2025
Can I drive a truck? – very late-onset Friedreich's ataxia
Friedreich's Ataxia (FA) is a rare, genetically inherited multisystem disorder that ranks among the most common hereditary ataxias. The initial symptoms typically manifest during adolescence, and within approximately ten years, the disease often leads to fatal disability. However, this case report discusses a rare atypical form with late onset in adulthood. Diagnosing late-onset forms is particularly challenging due to their more variable phenotypic presentation and slower progression compared to the classic form. Accurate diagnosis of FA in patients with chronic ataxic symptoms has gained renewed importance, especially in light of the first approved treatment available on the Czech market since 2024. This therapy not only improves symptoms but also has the potential to slow disease progression. Therefore, it is crucial to consider Friedreich's ataxia in the differential diagnosis and to recommend genetic testing when suspected, as it is essential for definitive diagnosis.
Keywords: Friedreich's ataxia, late-onset and very late-onset form, diagnostics, omaveloxolone, genetic screening
