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Investigations in suspected FRDA

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

Authoring team


Aim of primary care investigations carried out on FRDA patients is to exclude medical and neurological conditions that may contribute to ataxia. Diagnostic investigations in adults include:

  • U&Es
  • creatinine
  • FBC,
  • liver enzymes
  • vitamin B12
  • CXR

Secondary care investigations are generally done by a neurologist, with referral and input from other specialists as appropriate e.g – MRI brain and cervical spine, coeliac screen, caerulopasmin/copper etc.

Genetic tests should be considered for common inherited ataxias, particularly if there is a family history.

A child who presents with ataxic symptoms should be referred urgently to the local paediatric services (1).


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