Annals of Clinical Neurophysiology

The Korean Society of Clinical Neurophysiology (대한임상신경생리학회)
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Clinical and Electrodiagnostic Features of Kennedy Disease

Kennedy 병의 임상적, 전기 진단적 특징

  • Oh, Byeong Cheol (Department of Neurology, Asan Medical Center, College of Medicine, University of Ulsan) ;
  • Lim, Young-Min (Department of Neurology, Asan Medical Center, College of Medicine, University of Ulsan) ;
  • Kim, Kwang Kuk (Department of Neurology, Asan Medical Center, College of Medicine, University of Ulsan)
  • 오병철 (울산대학교 의과대학 서울아산병원 신경과학교실) ;
  • 임영민 (울산대학교 의과대학 서울아산병원 신경과학교실) ;
  • 김광국 (울산대학교 의과대학 서울아산병원 신경과학교실)
  • Published : 2003.05.10
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Abstract

Backgrounds: Kennedy disease is a X-linked recessive disease characterized by bulbar symptoms, proximal muscle weakness, and gynecomastia. Methods: We analyzed clinical symptoms and performed electrodiagnostic studies on 6 patients. Results: We found following features: 1) proximal muscle weakness 2) bulbar symptoms, as dysarthria, facial and tongue atrophy 3) hyporeflexia or areflexia 4) fasciculations, predominantly on face, and proximal upper extremities 5) decreased sensory nerve action potentials(SNAPs) 6) chronic neurogenic changes in needle EMG. Conclusions: Kennedy disease is characterized by degenerative process of anterior horn cell and dorsal root ganglion without upper motor neuron dysfunction. Increased triple nucleotide CAG repeats(>38) in androgen receptor gene of Xp21 will confirm early stage of this disease.

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