Kennedy disease

Common Name(s)

Kennedy disease, Spinobulbar muscular atrophy (SBMA), Bulbospinal amyotrophy, X-Linked

Kennedy disease is a gradually progressive neuromuscular disorder chiefly 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 signs and symptoms may include tremor, muscle cramps and muscle twitching, followed by progressive muscle weakness and wasting which may manifest in a variety of ways. Affected individuals may also have gynecomastia, testicular atrophy (reduction in size or function), and reduced fertility. It is caused by a mutation in the androgen receptor (AR) gene, in which a DNA segment known as a CAG triplet repeat is abnormally expanded. It is inherited in an X-linked recessive manner. Treatment may include physiotherapy and rehabilitation, medications for tremor and muscle cramps, and hormone therapy or surgical treatment of gynecomastia.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Kennedy disease" for support, advocacy or research.

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Kennedy's Disease Association

The Mission of the Kennedy's Disease Association: 1. Financially support and promote medical research to find a cure for Kennedy's Disease 2. Share information about Kennedy's Disease for those who seek it 3. Improve awareness of Kennedy's Disease in the medical community 4. Create a support system for those living with Kennedy's Disease 5. Increase public awareness about Kennedy's Disease and its effects on families

Last Updated: 20 Feb 2013

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Kennedy disease" for support, advocacy or research.

Logo
Kennedy's Disease Association

The Mission of the Kennedy's Disease Association: 1. Financially support and promote medical research to find a cure for Kennedy's Disease 2. Share information about Kennedy's Disease for those who seek it 3. Improve awareness of Kennedy's Disease in the medical community 4. Create a support system for those living with Kennedy's Disease 5. Increase public awareness about Kennedy's Disease and its effects on families

http://www.kennedysdisease.org/

Last Updated: 20 Feb 2013

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Kennedy disease" returned 13 free, full-text research articles on human participants. First 3 results:

[Comparison of clinical and physiological characteristics between Kennedy disease and amyotrophic lateral sclerosis].
 

Author(s): Jialing Yang, Qun Wang, Lizhen Lin, Dongmei Wang, Hui Zheng, Yuqing Guan

Journal: Nan Fang Yi Ke Da Xue Xue Bao. 2014 Nov;34(11):1688-92.

 

To study the clinical presentations of Kennedy disease (KD) and compare the neurophysiological features between KD and amyotrophic lateral sclerosis(ALS).

Last Updated: 21 Nov 2014

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Mutations disrupting the Kennedy phosphatidylcholine pathway in humans with congenital lipodystrophy and fatty liver disease.
 

Author(s): Felicity Payne, Koini Lim, Amandine Girousse, Rebecca J Brown, Nora Kory, Ann Robbins, Yali Xue, Alison Sleigh, Elaine Cochran, Claire Adams, Arundhati Dev Borman, David Russel-Jones, Phillip Gorden, Robert K Semple, Vladimir Saudek, Stephen O'Rahilly, Tobias C Walther, InĂªs Barroso, David B Savage

Journal: Proc. Natl. Acad. Sci. U.S.A.. 2014 Jun;111(24):8901-6.

 

Phosphatidylcholine (PC) is the major glycerophospholipid in eukaryotic cells and is an essential component in all cellular membranes. The biochemistry of de novo PC synthesis by the Kennedy pathway is well established, but less is known about the physiological functions of PC. We ...

Last Updated: 19 Jun 2014

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Kennedy disease misdiagnosed as polymyositis: a case report.
 

Author(s): Grigor M Harutunian, Said R Beydoun, Richard A Rison

Journal:

 

Polymyositis is an immune-mediated myopathy with clinical features of proximal muscle weakness. Dysphagia and neck flexor weakness can develop along with respiratory muscle weakness as the disease progresses. Kennedy disease or X-linked spinobulbar muscular atrophy is a rare X-linked ...

Last Updated: 15 Nov 2013

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Kennedy disease" returned 2 free, full-text review articles on human participants. First 3 results:

Androgen receptor and Kennedy disease/spinal bulbar muscular atrophy.
 

Author(s): Douglas Ashley Monks, Pengcheng Rao, Kaiguo Mo, Jamie Ann Johansen, Gareth Lewis, Michael Quentin Kemp

Journal: Horm Behav. 2008 May;53(5):729-40.

 

Kennedy Disease/Spinal Bulbar Muscular Atrophy (KD/SBMA) is a progressive neurodegenerative disease caused by genetic polyglutamine expansion of the androgen receptor. We have recently found that overexpression of wildtype androgen receptor in skeletal muscle of transgenic mice results ...

Last Updated: 28 Apr 2008

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Animal models of Kennedy disease.
 

Author(s): Diane E Merry

Journal: NeuroRx. 2005 Jul;2(3):471-9.

 

Since the identification of the polyglutamine repeat expansion responsible for Kennedy disease (KD) more than a decade ago, several laboratories have created animal models for KD. The slowly progressive nature of KD, its X-linked dominant mode of inheritance, and its recently elucidated ...

Last Updated: 3 Jan 2006

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

MRI in Patients With Kennedy Disease
 

Status: Recruiting

Condition Summary: Bulbo-Spinal Atrophy, X-Linked; Kennedy Disease

 

Last Updated: 6 Apr 2016

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High Intensity Training in Patients With Spinal and Bulbar Muscular Atrophy
 

Status: Not yet recruiting

Condition Summary: Spinal and Bulbar Muscular Atrophy; Healthy Subjects

 

Last Updated: 4 Jun 2014

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Enzalutamide in Patients With Androgen Receptor Positive (AR+) Ovarian, Primary Peritoneal or Fallopian Tube Cancer and One, Two or Three Prior Therapies
 

Status: Recruiting

Condition Summary: Advanced Epithelial Ovarian; Recurrent Epithelial Ovarian; Fallopian Tube; Primary Peritoneal Carcinoma.

 

Last Updated: 9 Jun 2016

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