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Phenotypic variability in Kennedy's disease: implication of the early diagnostic features

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Author(s)
Jae-Hyeok LeeJin-Hong ShinKyung-Pil ParkIn-Joo KimCheol-Min KimJeong-Geun LimYoung-Chul ChoiDae-Seong Kim
Keimyung Author(s)
Lim, Jeong Geun
Department
Dept. of Neurology (신경과학)
Journal Title
Acta Neurologica Scandinavica
Issued Date
2005
Volume
112
Issue
1
Abstract
Objectives – The clinical diagnosis of Kennedy’s disease (KD) is not
easy when the typical manifestations are lacking, especially in early
stage of the disease. In our study, we tried to identify the relative
frequency of common clinical features and early symptoms in
KD. Method – Eighteen Korean patients with KD were included.
Clinical findings were subdivided into two parts: the age at onset of
each clinical symptoms and characteristic signs on investigations.
With detailed clinical examinations, the serum creatine kinase (CK)
level, electrophysiologic study and DNA analysis were performed and
analyzed in detail. Results – In KD, the most consistent clinical
findings at evaluations included perioral fasciculation with variable
bulbar paresis, limb weakness with wasting, hyporeflexia, hand
tremor, and elevated CK level. Some distinguishing features, such as
X-linked family history, gynecomastia, and sensory abnormalities
were absent in a half of cases. Frequent initial clinical findings
include tremor (50%) and symptoms other than weakness, such as
cramps and fatigability (33.3%). Conclusion – We conclude that KD
shows variable clinical and electrophysiological features. Our
description on the onset and subsequent progression of each clinical
finding might help to identify KD in early stage and avoid
misdiagnosis.
Keimyung Author(s)(Kor)
임정근
Publisher
School of Medicine
Citation
Jae-Hyeok Lee et al. (2005). Phenotypic variability in Kennedy’s disease: implication of the early diagnostic features. Acta Neurologica Scandinavica, 112(1), 57–63. doi: 10.1111/j.1600-0404.2005.00428.x
Type
Article
ISSN
0001-6314
Source
https://onlinelibrary.wiley.com/doi/abs/10.1111/j.1600-0404.2005.00428.x
DOI
10.1111/j.1600-0404.2005.00428.x
URI
https://kumel.medlib.dsmc.or.kr/handle/2015.oak/34852
Appears in Collections:
1. School of Medicine (의과대학) > Dept. of Neurology (신경과학)
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