Delayed Diagnosis of A female Carrier Spinal & Bulbar Muscular Atrophy with Proximal Limbs Weakness

초록

Spinal and bulbar muscular atrophy (SBMA, Kennedy’s disease) is an X-linked, adult onset lower motor neuron disease characterized by slowly progressive weakness of the bulbar and extremity muscles. SBMA is caused by a CAG-repeat expansion in the first exon of the androgen receptor (AR) gene on the X-chromosome. Gene analysis can provide a diagnostic basis for this disease. The size of CAG repeats is one of the determinant factors of the severity of SBMA phenotypes. Heterozygous female carriers are generally asymptomatic, and even homozygous females had only mild symptoms. It makes delayed or misdiagnosis of SBMA in female patients. We report a case of symptomatic SBMA female patient who had not been diagnosed correctly for 13 years.