An exploration of barriers to diagnosis in Friedreich's ataxia

P270: An exploration of barriers to diagnosis in Friedreich's ataxia. Madden, Anna et al.; Genetics in Medicine Open, Volume 4, 103764. doi:10.1016/j.gimo.2026.103764 

Diagnostic delay remains common in FA, with an average delay of over four years between symptom onset and diagnosis. Misdiagnoses, clinician dismissal of symptoms, and genetic testing barriers remain the top three reported barriers among this patient population. These findings highlight key areas for improvement in both clinical recognition and appropriate genetic testing strategies in FA. Targeting efforts that increase awareness of FA signs, symptoms, and appropriate genetic testing with neurologists and geneticists, who are the most common diagnosing providers, may help to reduce diagnostic delay.

An exploration of barriers to diagnosis in Friedreich's ataxia