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 protocol is to provide evidence-based best practice recommendations and outline an optimised care pathway for patients with KD, based on a systematic literature review and consensus multidisciplinary observations.

Results

The initial evaluation, confirmation of the diagnosis, and management should ideally take place in a tertiary referral centre for motor neuron diseases, and involve an experienced multidisciplinary team of neurologists, endocrinologists, cardiologists and allied healthcar

SUBMITTER: Pradat PF 

PROVIDER: S-EPMC7149864 | biostudies-literature | 2020 Apr

REPOSITORIES: biostudies-literature