Korean Journal of Neuromuscular Disorders 2023;15(1):24-27

doi:10.46518/kjnmd.2023.15.1.24

Probable Kennedy Disease Mimicking Hirayama Disease: A Case Report

Soo-Im JANG 1 ; Soo-Hyun PARK ; Seul-Gi CHOI ; Sae-Nal LEE ; Ji-Yoon AN ; Nam-Hee KIM

Affiliations

+expand

Country

Republic of Korea

Language

Korean

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.