Objective: In the present study, we aimed at analyzing onset symptoms in Friedreich Ataxia on the basis of natural history data from the EFACTS registry (European Friedreich’s Ataxia Consortium for Translational Studies).

Background: Friedreich ataxia (FRDA) is the most common inherited ataxia in the Caucasians. FRDA is a multisystemic disorder featuring also skeletal abnormalities, cardiomyopathy, diabetes mellitus, bladder dysfunction, visual and sensorineural hearing loss. Diagnosis is usually prompted by recognition of slowly progressive coordination and balance disturbances, but anecdotal reports describe presentation with isolated scoliosis or heart disease.

Method: Within the EFACTS project, genetically confirmed FRDA patients were recruited between September 2010 and July 2015 at 11 European centers. We extracted and analyzed key clinical data from baseline visit (age at onset, symptoms at onset, age at diagnosis). A further variable, “time to diagnosis”, was calculated as difference between age at diagnosis and age at onset.

Results: Baseline data from 649 FRDA patients were retrieved. Sixty patients (9%) had onset with isolated non-neurological symptoms. The most common non-neurological presentation was scoliosis (70%, 43 patients), followed by cardiac symptoms (11%, 7 patients). The group with non-neurological presentation had a younger age at disease onset (12(10;15) vs 13(9;20) years p=0,04) as well as a delayed diagnosis compared to patients with classical neurological presentation (time-to-diagnosis= 5(2;9) vs 3(1;6) years, p=0,02).

Conclusion: Especially in younger patients, FRDA may present with isolated non-neurological symptoms. Onset with non-neurological symptoms was associated with a significant diagnostic delay in our cohort. This finding would bear relevant consequences once effective therapies will be available.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/onset-symptoms-and-time-to-diagnosis-in-friedreichs-ataxia/