Overview of X-linked Spinobulbar Muscular Atrophy

Kim, Jee Young

Review article

Korean Journal of Neuromuscular Disorders 2015;7(1):22-25.

Jee Young Kim

Department of Neurology, Myongji Hospital, Seonam University College of Medicine, Goyang, Korea

척수연수근육위축의 개요

김지영

서남대학교 의과대학 명지병원 신경과

Abstract

X-linked spinobulbar muscular atrophy (SBMA) is a rare, neurodegenerative disorders caused by an abnormal expansion of CAG repeats in the first exon of the gene encoding the androgen receptor (AR) gene, located on chromosome Xq11-12. It is characterized by adult-onset, slowly progressive muscle weakness and atrophy of the bulbar, facial and limb muscles. SBMA also shows a sensory involvement and signs of androgen insensitivity including gynecomastia, testicular atrophy and erectile dysfunction. AR, a disease-causing protein of SBMA, functions as a ligand-dependent transcriptional factor. The native function and sequential processing of AR play an important role in the pathogenesis and developing therapeutic interventions of SBMA. This article reviews the clinical and electrophysiological characteristics of SBMA and provides the update of therapeutic trials in SBMA.