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

Damásio, Joana; Sardoeira, Ana; Araújo, Maria; Carvalho, Isabel; Sequeiros, Jorge; Barros, José

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 the FXN gene, whose first symptoms appeared by the age of 8. At 22 years-old he developed sensorineural deafness,...

Date: 2021   |   Origin: Repositório Científico da Unidade Local de Saúde de Santo António (ULSSA)
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