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

Jae Hyeok Lee, Jin Hong Shin, Kyung Pil Park, In Joo Kim, Cheol Min Kim, Jeong Geun Lim, Young Chul Choi, Dae Seong Kim

Research output: Contribution to journalArticlepeer-review

49 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)57-63
Number of pages7
JournalActa Neurologica Scandinavica
Issue number1
Publication statusPublished - 2005 Jul

Bibliographical note

Funding Information:
This work was supported by the New & Renewable Energy Core Technology Program of the Korea Institute of Energy Technology Evaluation and Planning (KETEP) granted financial resource from the Ministry of Trade, Industry & Energy, Republic of Korea (No. 20143030031430 and 20153010130460).

All Science Journal Classification (ASJC) codes

  • Neurology
  • Clinical Neurology


Dive into the research topics of 'Phenotypic variability in Kennedy's disease: Implication of the early diagnostic features'. Together they form a unique fingerprint.

Cite this