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).

Reference:

• (1) Ataxia UK. Management of the ataxias towards best clinical practice (2016)