Onset features and time to diagnosis in Friedreich's Ataxia.

ABSTRACT: BACKGROUND:In rare disorders diagnosis may be delayed due to limited awareness and unspecific presenting symptoms. Herein, we address the issue of diagnostic delay in Friedreich's Ataxia (FRDA), a genetic disorder usually caused by homozygous GAA-repeat expansions. METHODS:Six hundred eleven genetically confirmed FRDA patients were recruited within a multicentric natural history study conducted by the EFACTS (European FRDA Consortium for Translational Studies, ClinicalTrials.gov -Identifier NCT02069509). Age at first symptoms as well as age at first suspicion of FRDA by a physician were collected retrospectively at the baseline visit. RESULTS:In 554 of cases (90.7%), disease presented with gait or coordination disturbances. In the others (n =?57, 9.3%), non-neurological features such as scoliosis or cardiomyopathy predated ataxia. Before the discovery of the causal mutation in 1996, median time to diagnosis was 4(IQR?=?2-9) years and it improved significantly after the introduction of genetic testing (2(IQR?=?1-5) years, p 

SUBMITTER: Indelicato E 

PROVIDER: S-EPMC7397644 | biostudies-literature | 2020 Aug

REPOSITORIES: biostudies-literature