We have located links that may give you full text access.
CASE REPORTS
JOURNAL ARTICLE
Clinical manifestations and AR gene mutations in Kennedy's disease.
Functional & Integrative Genomics 2019 May
Kennedy's disease, resulted from the expansion of a CAG repeat in exon 1 of androgen receptor (AR) gene, is a motor neuron degenerative disease in the brainstem and spinal cord with the slow development of facial, bulbar, and limb muscle degeneration. To investigate the clinical manifestations and gene mutations in Han Chinese patients with Kennedy's disease. The clinical manifestations of 5 male Han Chinese patients including 2 probands and their relatives from 2 families and 1 sporadic case were retrospectively studied. The CAG repeats in the first exon of AR were screened in 5 Han Chinese people including 2 probands and their healthy relatives from 2 families and 1 sporadic case by polymerase chain reaction (PCR) and direct sequencing. The average age at onset of Kennedy's disease was 48.20 ± 8.70 (mean ± SD) years and the average duration was 7.60 ± 5.32 years. All the patients showed slow onset and progressive weakness, wasting, and fasciculations of the whole body. Four patients demonstrated decreased fertility and 1 patient showed mild gynecomastia. Serum creatine kinase and testosterone levels were elevated mildly in 2 and 1 patients, respectively. The electromyogram showed neurogenic abnormalities. Muscle magnetic resonance demonstrated reduced muscle volume and fatty infiltration. Three different enlarged CAG domains were discovered in the 2 families and 1 sporadic patient with Kennedy's disease, and the CAG repeat number was 48, 43, and 44, respectively. The clinical manifestations of Kennedy's disease in Han Chinese middle-aged men were progressive weakness and atrophy in the bulbar and spinal muscles, occasionally demonstrating incomplete androgen insensitivity syndrome. These patients were also characterized with enlarged CAG repeat number in the first exon of AR, indicating that CAG number could be used in the diagnosis of Han Chinese patients with Kennedy's disease.
Full text links
Related Resources
Get seemless 1-tap access through your institution/university
For the best experience, use the Read mobile app
All material on this website is protected by copyright, Copyright © 1994-2024 by WebMD LLC.
This website also contains material copyrighted by 3rd parties.
By using this service, you agree to our terms of use and privacy policy.
Your Privacy Choices
You can now claim free CME credits for this literature searchClaim now
Get seemless 1-tap access through your institution/university
For the best experience, use the Read mobile app