ESPE Abstracts

Background: Friedreich’s ataxia (FA) is an autosomal recessive neurodegenerative disorder characterised by progressive ataxia with limb muscle weakness, absent lower limb reflexes, extensor plantar responses, dysarthria, decreased vibratory sense and proprioception. The most common molecular abnormality is a GAA trinucleotide repeat expansion in intron 1 of the frataxin (FXN) gene. Patients with FA are at risk of getting increased blood sugar levels, or ...