ParkinsonCanadaV1, Main, Exploration, bibRecord, 000B18

Consensus clinical management guidelines for Friedreich ataxia.

Identifieur interne : 000B18 ( Main/Exploration ); précédent : 000B17; suivant : 000B19

Consensus 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.

RBID : pubmed:25928624

English descriptors

KwdEn :
- Consensus, Disease Management, Friedreich Ataxia (diagnosis), Friedreich Ataxia (therapy), Humans, Practice Guidelines as Topic (standards).
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

Affiliations:

Le document en format XML

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<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>
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Consensus clinical management guidelines for Friedreich ataxia.

Consensus clinical management guidelines for Friedreich ataxia.

Source :

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

Pour générer des pages wiki

	La maladie de Parkinson au Canada (serveur d'exploration)
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