Natural history of Kennedy syndrome in Hanyang Medical Center

Abstract

Background : Kennedy syndrome, Spinal Bulbar Muscular Atrophy(SBMA) is a progressive neurodegenerative disease caused by genetic polyglutamine expansion on the androgen receptor. However, compare with amyotrophic lateral sclerosis, it usually believed to be associated with better survival and functional outcome. And its functional outcome not studied in Korea yet. Methods : Cases of SBMA seen at Hanyang medical center between January 1990 and July 2008 were reviewed regarding the onset of symptoms, date of the diagnosis, and duration of follow-up. All surviving subjects were contacted to complete the revised ALS Functional Rating Scale(ALSFRS-R). Results : All subjects reported some functional impairment in at least one of the subset scores excluding respiratory insufficiency subscores. Most prevalent impairments were seen in the walking subscores. None of the subjects reported percutaneous endoscopic gastrostomy(PEG) tubes and all maintained normal oral intake. According to our data, annual declination of ALSFRS-R of Kennedy syndrome is.1.17±0.52 (Mean±S.D). Among several subscores, walking(0.17±0.10) and climbing stairs (0.29±0.14) subscores are especially declined. Conclusion : Patients with Kennedy syndrome typically present with progressive neuromuscular weakness that most commonly includes the bulbar muscles. The long-term functional assessments demonstrate mild neurologic impairment in most without devastating bulbar or respiratory dysfunction and good ambulatory function after diagnosis. However, Korean data on this category is not detected. We performed study about natural history of Kennedy syndrome. Then, our data also reveal walking, climbing stairs subscores declination, bulbar and respiratory function subcores relatively preservation, similar to previous long term data.