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KMID : 1035220150070010022
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Korean Journal of Neuromuscular Disorders
2015 Volume.7 No. 1 p.22 ~ p.25
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Overview of X-linked Spinobulbar Muscular Atrophy
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Kim Jee-Young
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Abstract
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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.
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KEYWORD
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Spinobulbar muscular atrophy, Kennedy disease, Motor neuron disease, Androgen
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