Consensus clinical management guidelines for Friedreich ataxia.
Identifieur interne : 000636 ( PubMed/Curation ); précédent : 000635; suivant : 000637Consensus clinical management guidelines for Friedreich ataxia.
Auteurs : Louise A. Corben [Australie] ; David Lynch [États-Unis] ; Massimo Pandolfo [Belgique] ; Jörg B. Schulz [Allemagne] ; Martin B. Delatycki [Australie]Source :
- Orphanet journal of rare diseases [ 1750-1172 ] ; 2014.
English descriptors
- KwdEn :
- MESH :
- diagnosis : Friedreich Ataxia.
- standards : Practice Guidelines as Topic.
- therapy : Friedreich Ataxia.
- Consensus, Disease Management, Humans.
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.
DOI: 10.1186/s13023-014-0184-7
PubMed: 25928624
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Corben</name><affiliation wicri:level="1"><nlm:affiliation>Bruce Lefroy Centre, Murdoch Childrens Research Institute, Parkville, 3052, Victoria, Australia. louise.corben@vcgs.org.au.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Bruce Lefroy Centre, Murdoch Childrens Research Institute, Parkville, 3052, Victoria</wicri:regionArea></affiliation></author><author><name sortKey="Lynch, David" sort="Lynch, David" uniqKey="Lynch D" first="David" last="Lynch">David Lynch</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, Children's Hospital of Philadelphia, Pennsylvania, USA. lynchd@mail.med.upenn.edu.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Children's Hospital of Philadelphia, Pennsylvania</wicri:regionArea></affiliation></author><author><name sortKey="Pandolfo, Massimo" sort="Pandolfo, Massimo" uniqKey="Pandolfo M" first="Massimo" last="Pandolfo">Massimo Pandolfo</name><affiliation wicri:level="1"><nlm:affiliation>Laboratory of Experimental Neurology, Université Libre de Bruxelles, Brussels, Belgium. massimo.pandolfo@ulb.ac.be.</nlm:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Laboratory of Experimental Neurology, Université Libre de Bruxelles, Brussels</wicri:regionArea></affiliation></author><author><name sortKey="Schulz, Jorg B" sort="Schulz, Jorg B" uniqKey="Schulz J" first="Jörg B" last="Schulz">Jörg B. 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Corben</name><affiliation wicri:level="1"><nlm:affiliation>Bruce Lefroy Centre, Murdoch Childrens Research Institute, Parkville, 3052, Victoria, Australia. louise.corben@vcgs.org.au.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Bruce Lefroy Centre, Murdoch Childrens Research Institute, Parkville, 3052, Victoria</wicri:regionArea></affiliation></author><author><name sortKey="Lynch, David" sort="Lynch, David" uniqKey="Lynch D" first="David" last="Lynch">David Lynch</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, Children's Hospital of Philadelphia, Pennsylvania, USA. lynchd@mail.med.upenn.edu.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Children's Hospital of Philadelphia, Pennsylvania</wicri:regionArea></affiliation></author><author><name sortKey="Pandolfo, Massimo" sort="Pandolfo, Massimo" uniqKey="Pandolfo M" first="Massimo" last="Pandolfo">Massimo Pandolfo</name><affiliation wicri:level="1"><nlm:affiliation>Laboratory of Experimental Neurology, Université Libre de Bruxelles, Brussels, Belgium. massimo.pandolfo@ulb.ac.be.</nlm:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Laboratory of Experimental Neurology, Université Libre de Bruxelles, Brussels</wicri:regionArea></affiliation></author><author><name sortKey="Schulz, Jorg B" sort="Schulz, Jorg B" uniqKey="Schulz J" first="Jörg B" last="Schulz">Jörg B. Schulz</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, University Hospital, Aachen, Germany. jschulz@ukaachen.de.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, University Hospital, Aachen</wicri:regionArea></affiliation></author><author><name sortKey="Delatycki, Martin B" sort="Delatycki, Martin B" uniqKey="Delatycki M" first="Martin B" last="Delatycki">Martin B. Delatycki</name><affiliation wicri:level="1"><nlm:affiliation>Bruce Lefroy Centre, Murdoch Childrens Research Institute, Parkville, 3052, Victoria, Australia. martinbd@unimelb.edu.au.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Bruce Lefroy Centre, Murdoch Childrens Research Institute, Parkville, 3052, Victoria</wicri:regionArea></affiliation></author></analytic><series><title level="j">Orphanet journal of rare diseases</title><idno type="eISSN">1750-1172</idno><imprint><date when="2014" type="published">2014</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Consensus</term><term>Disease Management</term><term>Friedreich Ataxia (diagnosis)</term><term>Friedreich Ataxia (therapy)</term><term>Humans</term><term>Practice Guidelines as Topic (standards)</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Friedreich Ataxia</term></keywords><keywords scheme="MESH" qualifier="standards" xml:lang="en"><term>Practice Guidelines as Topic</term></keywords><keywords scheme="MESH" qualifier="therapy" xml:lang="en"><term>Friedreich Ataxia</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Consensus</term><term>Disease Management</term><term>Humans</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">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.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">25928624</PMID><DateCreated><Year>2015</Year><Month>05</Month><Day>01</Day></DateCreated><DateCompleted><Year>2015</Year><Month>10</Month><Day>30</Day></DateCompleted><DateRevised><Year>2017</Year><Month>02</Month><Day>20</Day></DateRevised><Article PubModel="Electronic"><Journal><ISSN IssnType="Electronic">1750-1172</ISSN><JournalIssue CitedMedium="Internet"><Volume>9</Volume><PubDate><Year>2014</Year><Month>Nov</Month><Day>30</Day></PubDate></JournalIssue><Title>Orphanet journal of rare diseases</Title><ISOAbbreviation>Orphanet J Rare Dis</ISOAbbreviation></Journal><ArticleTitle>Consensus clinical management guidelines for Friedreich ataxia.</ArticleTitle><Pagination><MedlinePgn>184</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1186/s13023-014-0184-7</ELocationID><Abstract><AbstractText>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.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Corben</LastName><ForeName>Louise A</ForeName><Initials>LA</Initials><AffiliationInfo><Affiliation>Bruce Lefroy Centre, Murdoch Childrens Research Institute, Parkville, 3052, Victoria, Australia. louise.corben@vcgs.org.au.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Monash Health, Clayton, 3168, Victoria, Australia. louise.corben@vcgs.org.au.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Lynch</LastName><ForeName>David</ForeName><Initials>D</Initials><AffiliationInfo><Affiliation>Department of Neurology, Children's Hospital of Philadelphia, Pennsylvania, USA. lynchd@mail.med.upenn.edu.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Department of Pediatrics, Children's Hospital of Philadelphia, Pennsylvania, USA. lynchd@mail.med.upenn.edu.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>University of Pennsylvania, Pennsylvania, USA. lynchd@mail.med.upenn.edu.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Pandolfo</LastName><ForeName>Massimo</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Laboratory of Experimental Neurology, Université Libre de Bruxelles, Brussels, Belgium. massimo.pandolfo@ulb.ac.be.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Schulz</LastName><ForeName>Jörg B</ForeName><Initials>JB</Initials><AffiliationInfo><Affiliation>Department of Neurology, University Hospital, Aachen, Germany. jschulz@ukaachen.de.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Delatycki</LastName><ForeName>Martin B</ForeName><Initials>MB</Initials><AffiliationInfo><Affiliation>Bruce Lefroy Centre, Murdoch Childrens Research Institute, Parkville, 3052, Victoria, Australia. martinbd@unimelb.edu.au.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Department of Clinical Genetics, Austin Health, Heidelberg, 3084, Victoria, Australia. martinbd@unimelb.edu.au.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Department of Paediatrics, Melbourne University, Parkville, 3052, Victoria, Australia. martinbd@unimelb.edu.au.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><CollectiveName>Clinical Management Guidelines Writing Group</CollectiveName></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType><PublicationType UI="D016454">Review</PublicationType></PublicationTypeList><ArticleDate 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