Onset features and time to diagnosis in Friedreich’s Ataxia | Orphanet Journal of Rare Diseases | Full Text

Onset features and time to diagnosis in Friedreich’s Ataxia | Orphanet Journal of Rare Diseases | Full Text

Onset features and time to diagnosis in Friedreich’s Ataxia

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 usuall...

Authors:Elisabetta Indelicato, Wolfgang Nachbauer, Andreas Eigentler, Matthias Amprosi, Raffaella Matteucci Gothe, Paola Giunti, Caterina Mariotti, Javier Arpa, Alexandra Durr, Thomas Klopstock, Ludger Schöls, Ilaria Giordano, Katrin Bürk, Massimo Pandolfo, Claire Didszdun, Jörg B. Schulz…

Citation:Orphanet Journal of Rare Diseases 2020 15:198

Content type:Research

 

Published on: 3 August 2020

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