- Genetics: AR. GAA triplet expansion repeat in Frataxin on 9q13.
- Pathophysiology: leads to abnormal iron handling in mitochondria à oxidative stress
- Onset: adolescence
- Neurologic features
- Cerebellar dysfunction
- Loss of deep tendon reflexes
- Sensory ataxia
- Pyramidal weakness
- Optic atrophy
- Hearing loss
- Other signs
- Diabetes: fingerpricks, insulin injection sites
- Cardiomyopathy: HOCM, heart failure, arrhythmia
- Skeletal deformity: pes cavus, talipes