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Journal of the Korean Academy of Rehabilitation Medicine 2002;26(5):626-630.
X-linked Recessive Bulbospinal Muscular Atrophy (Kennedy's Syndrome): A case report.
You, Young Hyun , Pyun, Sung Bom , Yoo, Han Wook , Park, Young Ok
1Department of Rehabilitation Medicine, Seoul Veterans Hospital, Korea.
2Department of Rehabilitation Medicine, Asan Medical Center, University of Ulsan College of Medicine, Korea. rmpyrn@amc.seoul.kr
3Department of Medical Genetics Clinic and Laboratory, Asan Medical Center, University of Ulsan College of Medicine, Korea.
성염색체 열성유전형 구척수 근위축증(Kennedy 증후군) ⁣증례 보고⁣
유영현, 편성범1, 유한욱2, 박영옥
서울보훈병원 재활의학과, 1울산대학교 의과대학 서울아산병원 재활의학교실, 2서울아산병원 유전자연구센터 의학유전학 클리닉 및 검사실

X-linked recessive bulbospinal muscular atrophy (Kennedy's syndrome) is a variant of the spinal muscular atrophies caused by mutation of androgen receptor gene on X-chromosome. A 69-year-old man had suffered from slowly progressive lower extremity weakness and gynecomastia. Muscle weakness was more severe in proximal muscles and showed symmetrical features. He had fascicular contraction on his face and tongue. All tendon reflexes were absent and pyramidal signs were not detected. Nerve conduction studies were normal except low amplitude of sensory nerve action potential in median nerve. Needle electromyography revealed widespread chronic denervation potentials in all sampling muscles of extremities, facial and tongue muscles. Histopathologic findings showed chronic denervation atrophy. DNA analysis showed abnormal expansion of CAG repeats in the androgen receptor gene and we confirmed this case as Kennedy's syndrome. If an adult patient has slowly progressive muscle weakness, bulbar symptoms and signs of male genital failure, DNA analysis should be taken to differentiate Kennedy syndrome from other motor neuron disease or myopathy. (J Korean Acad Rehab Med 2002; 26: 626-630)

Key Words: Muscular atrophy, Spinal, X-chromosome, Gynecomastia, Trinucleotide repeats


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