Onset features and time to diagnosis in Friedreich’s Ataxia

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 genetic...

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Veröffentlicht in:	Orphanet journal of rare diseases Jg. 15; H. 1; S. 198 - 8
Hauptverfasser:	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
Format:	Journal Article
Sprache:	Englisch
Veröffentlicht:	London BioMed Central 03.08.2020 BioMed Central Ltd Springer Nature B.V BMC
Schlagworte:	Adult Age Age at onset Ataxia Cardiomyopathy Cardiovascular disease Clinical genetics and genomics Delayed Diagnosis Development and progression Diagnosis Diagnostic delay Dysarthria Friedreich Ataxia - diagnosis Friedreich Ataxia - genetics Friedreich’s Ataxia Gait Genetic aspects Genetic disorders Genetic screening Genetic testing Homozygote Human Genetics Humans Life Sciences Medical diagnosis Medical research Medicine Medicine & Public Health Mutation Natural history study Neurons and Cognition Pharmacology/Toxicology Rare diseases Retrospective Studies Scoliosis Statistical analysis Studies Natural history study Age at onset Genetic testing Friedreich’s Ataxia Diagnostic delay Friedreich's Ataxia
ISSN:	1750-1172, 1750-1172
Online-Zugang:	Volltext
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