investigations in suspected FRDA
Last reviewed 04/2022
investigations
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,
- ESR/CRP
- 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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