Article
Onset features and time to diagnosis in Friedreich's Ataxia.
Orphanet journal of rare diseases - 3 Aug 2020
Indelicato Elisabetta, Nachbauer Wolfgang, Eigentler Andreas, Amprosi Matthias, Matteucci Gothe Raffaella, Giunti Paola, Mariotti Caterina, Arpa Javier, Durr Alexandra, Klopstock Thomas, Schöls Ludger, Giordano Ilaria, Bürk Katrin, Pandolfo Massimo, Didszdun Claire, Schulz Jörg B, Boesch Sylvia
Abstract excerpt
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...
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