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Journal of the Korean Neurological Association 1998;16(1): 99-104.
성염색체열성 유전형 구-척수 근위축증 (Kennedy 증후군) 가족1례
오경미, 김병준, 문희수, 진동규*
성균관대학교 의과대학 삼성서울병원 신경과학교실, 소아과학교실*
X-linked Recessive Bulbospinal Muscular Atrophy ( Kennedy’s Syndrome) - A Case Report -
Kyung-Mi Oh, M.D., Byung-Joon Kim, M.D., Hee-Su Moon, M.D., Dong-Kyu Jin, M.D.*
Department of Neurology and Pediatrics*, College of Medicine, Sung-Kyun-Kwan University, Sam-Sung Medical Center
Abstract
We report a family of X-linked recessive bulbospinal muscular atrophy, which was confirmed by DNA analysis. A 68-year-old man had been suffered from slowly progressive general weakness and muscle wasting for 15 years. On examination, He was dysarthric with nasal voice and had facial muscle weakness with involuntary fascicular contractions. The tongue was wasted with fasciculations. All tendon reflexes were absent. He had not sensory disturbances or any signs of pyramidal involvement. He had gynecomastia and had complained of hand tremor. EMG revealed widespread chronic denervation. Nerve conduction studies and histopathological results showed a pattern of motor-sensory neuropathy. There was an abnormal expansion of CAG repeats in the androgen receptor gene. And two his daughters and two sons were performed DNA analysis, which revealed this disease was X-linked recessive inheritance pattern.
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