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Consensus clinical management guidelines for Friedreich ataxia

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 a...

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Autores principales: Corben, Louise A, Lynch, David, Pandolfo, Massimo, Schulz, Jörg B, Delatycki, Martin B
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4280001/
https://www.ncbi.nlm.nih.gov/pubmed/25928624
http://dx.doi.org/10.1186/s13023-014-0184-7
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author Corben, Louise A
Lynch, David
Pandolfo, Massimo
Schulz, Jörg B
Delatycki, Martin B
author_facet Corben, Louise A
Lynch, David
Pandolfo, Massimo
Schulz, Jörg B
Delatycki, Martin B
author_sort Corben, Louise A
collection PubMed
description 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.
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spelling pubmed-42800012014-12-31 Consensus clinical management guidelines for Friedreich ataxia Corben, Louise A Lynch, David Pandolfo, Massimo Schulz, Jörg B Delatycki, Martin B Orphanet J Rare Dis Review 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. BioMed Central 2014-11-30 /pmc/articles/PMC4280001/ /pubmed/25928624 http://dx.doi.org/10.1186/s13023-014-0184-7 Text en © Corben et al.; licensee BioMed Central. 2014 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Review
Corben, Louise A
Lynch, David
Pandolfo, Massimo
Schulz, Jörg B
Delatycki, Martin B
Consensus clinical management guidelines for Friedreich ataxia
title Consensus clinical management guidelines for Friedreich ataxia
title_full Consensus clinical management guidelines for Friedreich ataxia
title_fullStr Consensus clinical management guidelines for Friedreich ataxia
title_full_unstemmed Consensus clinical management guidelines for Friedreich ataxia
title_short Consensus clinical management guidelines for Friedreich ataxia
title_sort consensus clinical management guidelines for friedreich ataxia
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4280001/
https://www.ncbi.nlm.nih.gov/pubmed/25928624
http://dx.doi.org/10.1186/s13023-014-0184-7
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