The French national protocol for Kennedy’s disease (SBMA): consensus diagnostic and management recommendations

The French national protocol for Kennedy’s disease (SBMA): consensus diagnostic and management recommendations

Abstract Background Kennedy’s disease (KD), also known as spinal and bulbar muscular atrophy (SBMA), is a rare, adult-onset, X-linked recessive neuromuscular disease caused by CAG expansions in exon 1 of the androgen receptor gene (AR). The objective of the French national diagnostic and management...

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Bibliographic Details
Main Authors: Pierre-François Pradat, Emilien Bernard, Philippe Corcia, Philippe Couratier, Christel Jublanc, Giorgia Querin, Capucine Morélot Panzini, François Salachas, Christophe Vial, Karim Wahbi, Peter Bede, Claude Desnuelle, on behalf of the French Kennedy’s Disease Writing Group
Format: Article
Language:English
Published: BMC 2020-04-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Kennedy disease
Spinal and bulbar muscular atrophy
Guidelines
Polyglutamine
Androgen receptor
Androgen insensitivity
Online Access:http://link.springer.com/article/10.1186/s13023-020-01366-z

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http://link.springer.com/article/10.1186/s13023-020-01366-z

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