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

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Author(s)
임정근
Alternative Author(s)
Lim, Jeong Geun
Publication Year
2005
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.
Department
Dept. of Neurology (신경과학)
Publisher
School of Medicine
Citation
Acta Neurologica Scandinavica, Vol.112(1) : 57-63, 2005
Type
Article
ISSN
0001-6314
DOI
10.1111/j.1600-0404.2005.00428.x
URI
http://kumel.medlib.dsmc.or.kr/handle/2015.oak/34852
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