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Differential diagnosis

Authoring team

differential diagnosis

Differential diagnosis of Friedreich’s ataxia include:

  • peripheral neuropathy
    • Charcot-Marie-Tooth type 1 (CMT1) and Charcot-Marie-Tooth type 2 (CMT2)
    • spinocerebellar ataxia with axonal neuropathy (SCAN1)

  • ataxia
    • ataxia with vitamin E deficiency (AVED)
    • ataxia with oculomotor apraxia type 1 & 2
    • ataxia-telangiectasia

  • spasticity

  • Huntington disease. Rarely, FRDA can present as a phenocopy of Huntington disease

Reference:

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