Abstract
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.
Highlights
Friedreich ataxia (FRDA), the most common of the hereditary ataxias, is an autosomal recessive, multisystem disorder affecting approximately 1 in 29,000 individuals and has a carrier frequency of 1 in 85 in individuals of Caucasian background [1,2]
The molecular basis of Friedreich ataxia was established in 1996 [8]. The time since this pivotal discovery has seen an explosion in the understanding of the underlying mutation and the pathogenesis of the condition, the phenotype and potential pharmacological interventions
Despite this surge of information, significant gaps remain in understanding the best clinical interventions for people with FRDA
Summary
Friedreich ataxia (FRDA), the most common of the hereditary ataxias, is an autosomal recessive, multisystem disorder affecting approximately 1 in 29,000 individuals and has a carrier frequency of 1 in 85 in individuals of Caucasian background [1,2]. Corben et al Orphanet Journal of Rare Diseases (2014) 9:184 clinicians to provide effective, evidence-based clinical management for the multifaceted issues facing people with FRDA endures. In 2003, “Revalidatie Geneeskundige Richtlijn Ataxie van Friedreich” was written by a special task force under the auspices of ‘Vereniging Spierziekten Nederland’. These were the first guidelines that provided an evidence base to the clinical management of people with FRDA. These guidelines were subsequently updated and adapted for international use in September 2007 Whilst this further initiative was welcomed, it was apparent that issues specific to FRDA required disease specific guidelines. It was apparent that the multiple gaps in evidence surrounding service delivery may provide a platform for ongoing research
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