The following information may help to address your question:
What is Kennedy disease?
is a gradually progressive, neuromuscular disorder
characterized by wasting of the proximal muscles (those closer to the trunk) and bulbar muscles (those of the face and throat).The condition mainly affects males, with onset between the ages of 30 and 60.
Early symptoms may include tremor, muscle cramps, and muscle twitching. This is followed by progressive muscle weakness and wasting, which may manifest in a variety of ways.
Affected people may also have gynecomastia
, testicular atrophy (reduction in size or function of the testes
), and reduced fertility as a result of mild androgen insensitivity.
Kennedy disease is caused by a mutation
in the androgen receptor (AR) gene
and is inherited
in an X-linked recessive
manner. Treatment may include physiotherapy
and rehabilitation; medications to alleviate tremor and muscle cramps; and hormone therapy
or surgical treatment for gynecomastia.
Last updated: 9/21/2015
How might Kennedy disease be treated?
There is currently no cure for Kennedy disease. Treatment aims to relieve symptoms, maintain maximal function, and improve quality of life. Physical therapy and rehabilitation, including the use of braces and walkers, are the best chance for remaining ambulatory as the disease progresses. Some people with Kennedy disease have breast reduction surgery for gynecomastia.
The use of anti-androgens have been shown to improve some aspects of the disease is some people; the androgen-dependent nature of the disease is the rationale for the use of anti-androgens in treating Kennedy disease.
Complications resulting from bulbar weakness, such as asphyxiation and aspiration pneumonia, can be life threatening. People with bulbar weakness should be counseled on the importance of cutting their food into small pieces for eating, and avoiding items that may be difficult to chew and then swallow.
The severity and progression of Kennedy disease should be monitored. Because it is slowly progressive, it is important to periodically assess strength and tolerance to exertion. This allows for proactive management to minimize the risk for falls, optimize mobility, and provide appropriate assistive devices.
Last updated: 9/21/2015
Are there therapies for Kennedy disease under investigation?
Yes. Therapies for Kennedy disease under investigation have included:
- High-dose testosterone - At least one clinical trial of high-dose oral testosterone has been undertaken, and no significant benefit was seen for the androgen treatment group. Based on research in Drosophila and mouse models, many researchers believe that androgen treatment can be harmful.
- Anti-androgen therapy - There is no consensus or clear evidence as to whether anti-androgen therapy is an effective treatment for the neurologic complications of Kennedy disease. However, anti-androgen therapy shows promise based on studies in Drosophila and mouse models as well as knowledge of the molecular basis of Kennedy disease. More detailed information about anti-androgen therapy for Kennedy disease is available on the GeneReviews Web site under Therapies Under Investigation.
- Creatine supplementation - Recent studies of amyotrophic lateral sclerosis (ALS) suggest that creatine supplementation may temporarily enhance muscle strength and exercise performance, prompting speculation that it may offer a similar benefit to people with Kennedy disease; however, this remains to be tested.
- Experimental therapies in animal models - Some interventions have been shown to be beneficial in mouse models; these studies have suggested that muscle-directed therapies hold great promise as treatments for Kennedy disease.
Last updated: 9/24/2015
Where can I find more information about therapies for Kennedy disease under investigation?
The U.S. National Institutes of Health, through the National Library of Medicine, developed ClinicalTrials.gov to provide patients, family members, and members of the public with current information on clinical research studies. There are a number of ongoing and completed trials relating to treatment options for Kennedy disease.
You can view the list of clinical trials for Kennedy disease here.
Use each study’s contact information to learn more. This site can be checked often for updates.
You can also find relevant articles about the treatment of Kennedy disease through PubMed
, a searchable database of biomedical journal articles. Although not all of the articles are available for free online, most articles listed in PubMed have a summary available.
A sample search for information about the treatment of Kennedy disease is available here
To obtain a full article, contact a medical/university library or your local library for interlibrary loan. You can also order articles online through the publisher’s Web site. The National Library of Medicine (NLM) Web site has a page for locating libraries in your area that can provide direct access to these journals (print or online). The Web page also describes how you can get these articles through interlibrary loan and Loansome Doc (an NLM document-ordering service). You can access this page at the following link: http://nnlm.gov/members/
. You can also contact the NLM toll-free at 888-346-3656 to locate libraries in your area.
Last updated: 9/21/2015
We hope this information is helpful. We strongly recommend you discuss this information with your doctor. If you still have questions, please
GARD Information Specialist
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