Rare occurrence of severe blindness and deafness in Friedreich ataxia: a case report

BACKGROUND: Friedreich ataxia is the most frequent hereditary ataxia worldwide. Subclinical visual and auditory involvement has been recognized in these patients, with co-occurrence of severe blindness and deafness being rare. CASE REPORT: We describe a patient, homozygous for a 873 GAA expansion in...

Descripción completa

Detalles Bibliográficos
Autores principales: Damásio, Joana, Sardoeira, Ana, Araújo, Maria, Carvalho, Isabel, Sequeiros, Jorge, Barros, José
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8283931/
https://www.ncbi.nlm.nih.gov/pubmed/34266481
http://dx.doi.org/10.1186/s40673-021-00140-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8283931/
https://www.ncbi.nlm.nih.gov/pubmed/34266481
http://dx.doi.org/10.1186/s40673-021-00140-6

Ejemplares similares