The clinical features of 27 patients with Kennedy's disease / 中华神经科杂志

ABSTRACT

Objective To analyze the clinical features of 27 Chinese patients with Kennedy's disease(KD), a sex-linked inheritance disorder. Methods We collected the clinical data of 27 KD patients whose diagnosis were confirmed by gene examination to analyze their clinical features, as well as their serum levels of sex hormones and biochemical indicators. Results Patients with spinal and bulhar muscular atrophy tend to have an adult onset, exhibiting a slow progression of lower motor neuronal weakness and atrophy involving limbs and bulbar zones. Part of the invalids presented signs of androgen insensitivity such as gynecomastia or reduced sexual function, even though their degrees of sex hormones were normal. There was mild motor functional lesion which correlated with the course of the disease ( r = 0. 77, P = 0. 000). The degrees of creatine kinase ( ( 920. 10 ± 495.54 ) U/L ) and triglyceride ( ( 3.27 ± 2. 78) mmool/L) increased mildly and was significantly different from the levels of healthy ones (107.20 U/L,t =7.517,P =0.000;1.40 mmol/L, t =2.687,P =0.017). Conclusions Basically, Chinese KD patients present the same clinical features as the literature reports, however they have distinctive aspects such as elevated degree of triglyceride. The present research can help us to understand the features of Chinese KD more particularly.