Consensus clinical management guidelines for Friedreich ataxia
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REVIEW
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Consensus clinical management guidelines for Friedreich ataxia Louise A Corben1,2, David Lynch3,4,5, Massimo Pandolfo6, J?rg B Schulz 7, Martin B Delatycki1,8,9* and On behalf of the Clinical Management Guidelines Writing Group
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. Keywords: Friedreich ataxia, Clinical, Guidelines, Evidence, Recommendations
Introduction 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 hallmark neurological features of FRDA include progressive afferent and cerebellar ataxia, dysarthria, fixation instability, impaired vibration sense and proprioception, and pyramidal weakness. Most affected individuals have absent lower limb reflexes, but some have retained reflexes and may have spasticity. Scoliosis, diabetes, foot deformity and cardiomyopathy are common non-neurological features [3-5]. Pathology related to FRDA includes degeneration of the dorsal root * Correspondence: [email protected] 1 Bruce Lefroy Centre, Murdoch Childrens Research Institute, Parkville 3052, Victoria, Australia 8 Department of Clinical Genetics, Austin Health, Heidelberg 3084, Victoria, Australia Full list of author information is available at the end of the article
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