Kennedy Disease

Common Name(s)

Kennedy Disease, Bulbospinal Amyotrophy, X-Linked, Bulbo-Spinal Atrophy 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 10 free, full-text research articles on human participants. First 3 results:

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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[Kennedy disease in Peru: first cases with molecular diagnosis].
 

Author(s): Víctor Gómez-Calero, Mario Cornejo-Olivas, Olimpio Ortega, Victoria Marca, Saúl Lindo-Samanamud, Martha Flores, Luis Torres-Ramírez, Pilar Mazzetti

Journal: Rev Peru Med Exp Salud Publica. 2013 Apr;30(2):331-5.

 

Kennedy's disease is an X-linked recessive disorder with onset in adulthood, characterized by progressive degeneration of spinal motor neurons due to a dynamic mutation in the androgen receptor gene. We report three families (five cases) characterized by progressive weakness involving ...

Last Updated: 16 Aug 2013

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Complications after cardiovascular surgery in a case of undiagnosed spinal-bulbar muscular atrophy (Kennedy disease).
 

Author(s): Stacey A Skoretz, May-Sann Yee, Rosemary Martino

Journal: Am. J. Crit. Care. 2012 Mar;21(2):139-8.

 

Neurodegenerative diseases are often associated with life-threatening declines in respiratory and swallowing mechanisms. We report the case of a 70-year-old man who had postoperative dysphagia and respiratory failure that required reintubation after coronary artery bypass surgery. ...

Last Updated: 2 Mar 2012

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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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Clinical Trial Information This information is provided by ClinicalTrials.gov

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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Safety, Tolerability, and Efficacy of BVS857 in Patients With Spinal and Bulbar Muscular Atrophy
 

Status: Recruiting

Condition Summary: Spinal and Bulbar Muscular Atrophy

 

Last Updated: 24 Sep 2014

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Phase I Open Label Dose Escalation Study to Investigate the Safety & Pharmacokinetics of AZD5312 in Patients With Androgen Receptor Tumors
 

Status: Recruiting

Condition Summary: Advanced Solid Tumours With Androgen Receptor Pathway as a Potential Factor

 

Last Updated: 9 Oct 2014

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