An Exploration of Barriers to Diagnosis in Friedreich Ataxia

Friedreich ataxia (FRDA) is the most common inherited ataxia worldwide, yet many individuals experience substantial delays between symptom onset and diagnosis. An online survey was completed by individuals with FRDA or their caregivers (n = 106) from 14 countries. Participants provided information on the total time to diagnosis, along with associated barriers and facilitators to diagnosis. Participants reported a mean delay of 4.8 years from symptom onset to diagnosis, including 1.7 years before seeking medical care and 2.8 years from first medical contact to diagnosis. Most diagnoses were made by neurologists (78.3%) or geneticists (13.2%). Key barriers identified included misdiagnoses (62% of respondents) and symptom dismissal by clinicians (46% of respondents). Additional barriers involved challenges with genetic testing and logistical barriers such as long appointment wait times. These findings indicate a clear need to improve clinical recognition and the use of appropriate genetic testing strategies to shorten the diagnostic odyssey for individuals with FRDA worldwide.