Genetic Counseling Considerations in Friedreich Ataxia

Genetic testing results in ~98% detection in symptomatic individuals. In rare cases, analysis of frataxin protein levels can be helpful to confirming or ruling out a diagnosis. F A is an autosomal recessive disorder with prevalence of approximately 1 in 50,000 in populations of European origin. Approximately 1 in 90 in those populations are heterozygous carriers of an abnormal FXN allele. Carrier testing is recommended for anyone with a positive family history of Friedreich ataxia and for partners of known carriers. Presymptomatic testing for at-risk siblings/relatives is available, however genetic counseling is strongly recommended to assist individuals/families in considering the risks vs benefits for testing an untreatable genetic condition.