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Friedreich Ataxia

S H Subramony¹, David R Lynch²

¹Department of Neurology and Fixel Institute for Neurological Disorders, University of Florida College of Medicine, Gainesville, Florida.

Pediatric Neurology

|November 18, 2025

Abstract

None:

With the introduction of potential new therapy for Friedreich ataxia, the disorder has taken on a new importance in the world of pediatric neurology. Originally described more than 150 years ago, large scale clinical studies have defined diagnostic criteria and the underlying mutation as a biallelic, unstable expansion of an intronic guanine adenine adenine repeat in chromosome 9. In this review, we summarize the clinical features, routine management, pathophysiology, and emerging therapies for this devastating disease. The recent approval of omaveloxolone makes recognition of Friedreich ataxia and its treatment essential for all pediatric neurologists.

Keywords:

Epigenetic Gene therapy Mitochondrion Neurodegeneration Neurodevelopment Protein replacement antioxidant

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