title: Phenotypic variability in Kennedy's disease: implication of the early diagnostic features.
abstract: 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.
authors.affiliation: Department of Neurology, College of Medicine, Pusan National University, Pusan, Korea.
authors.forename: Jae-Hyeok
authors.initials: JH
authors.lastname: Lee
authors.forename: Jin-Hong
authors.initials: JH
authors.lastname: Shin
authors.forename: Kyung-Pil
authors.initials: KP
authors.lastname: Park
authors.forename: In-Joo
authors.initials: IJ
authors.lastname: Kim
authors.forename: Cheol-Min
authors.initials: CM
authors.lastname: Kim
authors.forename: Jeong-Geun
authors.initials: JG
authors.lastname: Lim
authors.forename: Young-Chul
authors.initials: YC
authors.lastname: Choi
authors.forename: Dae-Seong
authors.initials: DS
authors.lastname: Kim
mesh_terms: 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
chemical_list: D011944:Receptors, Androgen; D003402:Creatine Kinase