Send to

Choose Destination
See comment in PubMed Commons below
Orphanet J Rare Dis. 2014 Nov 30;9:184. doi: 10.1186/s13023-014-0184-7.

Consensus clinical management guidelines for Friedreich ataxia.

Author information

Bruce Lefroy Centre, Murdoch Childrens Research Institute, Parkville, 3052, Victoria, Australia.
Monash Health, Clayton, 3168, Victoria, Australia.
Department of Neurology, Children's Hospital of Philadelphia, Pennsylvania, USA.
Department of Pediatrics, Children's Hospital of Philadelphia, Pennsylvania, USA.
University of Pennsylvania, Pennsylvania, USA.
Laboratory of Experimental Neurology, Université Libre de Bruxelles, Brussels, Belgium.
Department of Neurology, University Hospital, Aachen, Germany.
Bruce Lefroy Centre, Murdoch Childrens Research Institute, Parkville, 3052, Victoria, Australia.
Department of Clinical Genetics, Austin Health, Heidelberg, 3084, Victoria, Australia.
Department of Paediatrics, Melbourne University, Parkville, 3052, Victoria, Australia.


Friedreich ataxia (FRDA), a multisystem autosomal recessive condition, is the most common inherited ataxia in Caucasians, affecting approximately 1 in 29,000 individuals. The hallmark clinical features of FRDA include progressive afferent and cerebellar ataxia, dysarthria, impaired vibration sense and proprioception, absent tendon reflexes in lower limbs, pyramidal weakness, scoliosis, foot deformity and cardiomyopathy. Despite significant progress in the search for disease modifying agents, the chronic progressive nature of FRDA continues to have a profound impact on the health and well-being of people with FRDA. At present there is no proven treatment that can slow the progression or eventual outcome of this life-shortening condition. Thirty-nine expert clinicians located in Europe, Australia, Canada and USA critically appraised the published evidence related to FRDA clinical care and provided this evidence in a concise manner. Where no published data specific to FRDA existed, recommendations were based on data related to similar conditions and/or expert consensus. There were 146 recommendations developed to ensure best practice in the delivery of health services to people with FRDA. Sixty-two percent of recommendations are based on expert opinion or good practice indicating the paucity of high-level quality clinical studies in this area. Whilst the development of these guidelines provides a critical first step in the provision of appropriate clinical care for people with FRDA, it also highlights the urgency of undertaking high-quality clinical studies that will ensure the delivery of optimum clinical management and intervention for people with FRDA.

[Indexed for MEDLINE]
Free PMC Article
PubMed Commons home

PubMed Commons

How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for BioMed Central Icon for PubMed Central
    Loading ...
    Support Center