Journal
JOURNAL OF NEUROLOGY
Volume 270, Issue 10, Pages 5017-5022Publisher
SPRINGER HEIDELBERG
DOI: 10.1007/s00415-023-11842-8
Keywords
Spinal and bulbar muscular atrophy; Epidemiology; Prevalence; South Korea; National health insurance service
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This study investigated the prevalence, incidence, and comorbidities associated with SBMA in the South Korean population. The mean incidence rate of SBMA was 0.36/100,000 males, and the prevalence rate was approximately 0.46/100,000 males. The most common comorbidities identified were gastritis and duodenitis, gastroesophageal reflux, hyperlipidemia, and liver disorders. Gastric cancer was also found to be a common type of cancer in SBMA patients in South Korea.
Spinal and bulbar muscular atrophy (SBMA), or Kennedy's disease, is a rare X-linked neuromuscular disorder predominantly affecting males and caused by a mutation in the androgen receptor gene. The epidemiology and comorbidities associated with SBMA in different ethnicities remain poorly understood. This study investigated the prevalence, incidence, and comorbidities associated with SBMA in the South Korean population using the Health Insurance Review and Assessment Service (HIRA) database. We retrospectively reviewed diagnosed cases of SBMA (G12.25 code of the Korean Classification of Diseases-7th edition) registered from January 1, 2016, to December 31, 2019, to calculate incidence and prevalence rates and concomitant comorbidities. Additionally, we surveyed SBMA patients (questionnaire group) visiting our clinic in 2022 to compare comorbidities with the HIRA data. The mean incidence rate of SBMA in the Korean population was 0.36/100,000 males from 2018 to 2019, while the prevalence rate was approximately 0.46/100,000 males from 2016 to 2019. The most common comorbidities identified in HIRA were gastritis and duodenitis (99.7%), gastroesophageal reflux (90.5%), hyperlipidemia (88.4%), and liver disorders (75.2%), which showed similar results in the questionnaire group. Additionally, gastric cancer was the most common type of cancer reported in SBMA in South Korea; although indeterminate, age-related factors may contribute to the development of cancer in these patients. Our findings provide valuable insights into the epidemiology and associated comorbidities of SBMA within the Korean population, which could inform clinical practice and future clinical research.
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