Korean J Neuromuscul Disord.  2023 Jun;15(1):24-27. 10.46518/kjnmd.2023.15.1.24.

Probable Kennedy Disease Mimicking Hirayama Disease: A Case Report

• Jang SI
• Park SH
• Choi SG
• Lee SN
• An JY
• Kim NH

• KMID: 2543606
• DOI: http://doi.org/10.46518/kjnmd.2023.15.1.24

Abstract

Spinal and bulbar muscular atrophy (Kennedy disease) is an X-linked, adult-onset motor neuron disease characterized by slow, progressive weakness of the bulbar and extremity muscles with CAG triplet repeat expansion in the androgen receptor gene. Hirayama disease (HD) is characterized by the juvenile onset of asymmetric weakness and amyotrophy of the hand and is most common in males in Asia. We report a patient with atypical Kennedy disease presenting with asymmetric hand weakness and atrophy typical of HD.

Keyword

Spinobulbar muscular atrophy, Kennedy diseases, Hirayama disease