Friedreich ataxia:

Subramony SH, Lynch DR. Friedreich Ataxia. Pediatr Neurol. 2025 Nov 1;174:148-154. doi: 10.1016/j.pediatrneurol.2025.10.020. Epub ahead of print. PMID: 41252802.

With the introduction of potential new therapy for Friedreich ataxia (FRDA), 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 GAA 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 FRDA and its treatment essential for all pediatric neurologists.