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Condition report · Neurological

Friedreich Ataxia

An inherited condition that damages the nerves and the cerebellum, causing progressive problems with balance, coordination and speech, often with heart involvement. It is the most common inherited ataxia and is caused by changes in both copies of the FXN gene.

A condition report looks for rare variants known to cause the conditions it covers.

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The condition we analyse

Autosomal recessive

A progressive ataxia caused by biallelic FXN variants, most often an expanded GAA repeat in intron 1, with sensory neuropathy, cardiomyopathy and an increased risk of diabetes.

What a diagnosis changes

Regular neurological, cardiac and diabetes monitoring; omaveloxolone is approved for people aged 16 and over in the US and EU; carrier testing for relatives and reproductive counselling.

Genes analysed

Also known as

FA; FRDA; Friedreich's Ataxia; hereditary spinal ataxia; hereditary spinal sclerosis; spinocerebellar ataxia, Friedreich

Includes 3 related subtypes ↓
  • Friedreich ataxia 1
  • Friedreich ataxia 2
  • Friedreich ataxia with retained reflexes
MONDO:0100339Orphanet 95MedGen 5276

Limitations

  • Most cases of Friedreich ataxia are caused by an expanded GAA repeat in the FXN gene. Expanded repeats are longer than a sequencing read and are not reliably detected or sized by our standard whole genome small-variant analysis, so a negative result does not rule out the condition or carrier status. Learn more

Other neurological conditions

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