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


METHODS
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%).


CONCLUSIONS
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.
Lee
Jae-Hyeok
JH
Department of Neurology, College of Medicine, Pusan National University, Pusan, Korea.
Shin
Jin-Hong
JH
Park
Kyung-Pil
KP
Kim
In-Joo
IJ
Kim
Cheol-Min
CM
Lim
Jeong-Geun
JG
Choi
Young-Chul
YC
Kim
Dae-Seong
DS
D000328:Adult; D017668:Age of Onset; D000368:Aged; D015897:Comorbidity; D003402:Creatine Kinase / Q000097:blood; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D018450:Disease Progression; D042241:Early Diagnosis; D005192:Family Health; D040181:Genetic Diseases, X-Linked / Q000175:diagnosis* / Q000453:epidemiology / Q000503:physiopathology*; D006177:Gynecomastia / Q000175:diagnosis / Q000453:epidemiology / Q000503:physiopathology; D006801:Humans; D007723:Korea / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D009133:Muscular Atrophy / Q000175:diagnosis / Q000453:epidemiology / Q000503:physiopathology; D009134:Muscular Atrophy, Spinal / Q000175:diagnosis* / Q000453:epidemiology / Q000503:physiopathology*; D010291:Paresis / Q000175:diagnosis / Q000453:epidemiology / Q000503:physiopathology; D010641:Phenotype; D011237:Predictive Value of Tests; D011944:Receptors, Androgen / Q000235:genetics; D012678:Sensation Disorders / Q000175:diagnosis / Q000453:epidemiology / Q000503:physiopathology; D014202:Tremor / Q000175:diagnosis / Q000453:epidemiology / Q000503:physiopathology; D019680:Trinucleotide Repeat Expansion / Q000235:genetics
D011944:Receptors, Androgen; D003402:Creatine Kinase