Clinical Phenotyping and Biomarkers in Spinal and Bulbar Muscular Atrophy

Clinical Phenotyping and Biomarkers in Spinal and Bulbar Muscular Atrophy

Background: Spinal and bulbar muscular atrophy (SBMA) or Kennedy disease [OMIM: 313200] is a rare X-linked neuromuscular disease. Patients commonly present with muscle cramps, tremors, leg weakness, dysarthria and dysphagia.Methods: We deeply phenotyped and evaluated the possible extent of affected...

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Bibliografische gegevens
Hoofdauteurs: Elina Millere, Dmitrijs Rots, Ieva Glazere, Gita Taurina, Natalja Kurjane, Viktorija Priedite, Linda Gailite, Kaj Blennow, Henrik Zetterberg, Viktorija Kenina
Formaat: Artikel
Taal:English
Gepubliceerd in: Frontiers Media S.A. 2021-01-01
Reeks:Frontiers in Neurology
Onderwerpen:
Kennedy disease
spinal and bulbar muscular atrophy
phenotype
clinical features
biomarker
neurofilament
Online toegang:https://www.frontiersin.org/articles/10.3389/fneur.2020.586610/full

Internet

https://www.frontiersin.org/articles/10.3389/fneur.2020.586610/full

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