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Kennedy Disease



Kennedy Disease, also known as Spinal and Bulbar Muscular Atrophy (SBMA), is a rare subtype of Spinal Muscular Atrophy.  Spinal Muscular Atrophy is a degenerative neuromuscular disorder that affects proximal muscles involved in voluntary activities such as walking, head and neck control and swallowing.  Kennedy Disease is a rare, adult-onset type of Spinal Muscular Atrophy.  It affects approximately 1 in 50,000.  Due to its symptoms, it is often misdiagnosed as Lou Gehrig’s Disease.  A definitive diagnosis can be made through DNA analysis.


Kennedy Disease is a slow, but progressive disease.  Onset of Kennedy Disease typically occurs during thirty years of age but may appear in their fifties.  Early symptoms include severe muscle cramps, and weakness of the hip and shoulder muscles.  Muscles of the face, lips, tongue, mouth, throat, vocal cords, trunk and limbs may also be affected.  The patient often experiences uncontrollable twitching of these muscles, followed by weakness and atrophy.  Physical manifestations include difficulty or inability to chew, swallow and breath, unusually large calves, and a scalloped appearance of the tongue.  Other complications of Kennedy Disease include swelling of the breasts (gynecomastia), endocrine disorders such as diabetes and gonadal atrophy.  There is no cure or proven effective treatment for Kennedy Disease.  Management of the disease includes reducing risks for injury in daily life and at work.  As the disease progresses, wheelchair may be necessary.


Kennedy Disease is caused by an abnormally high number of CAG repeats in the androgen receptor gene on the X chromosome.  The exact mechanism of how this affects muscle function is unknown.  Transmission of Kennedy Disease to offspring may be prevented through a new technology called Pre-Implantation Genetic Diagnosis (PGD).  PGD tests embryos for genetic defects and determines the sex of the embryos prior to implantation.  Due to its inheritance pattern, Kennedy Disease is more prevalent and symptoms more pronounced in males than in females.  A thorough genetic evaluation can determine whether PGD will be beneficial to families.  With advances in genetic research,  PGD is continuously being improved so it may eventually test for many more genetic conditions including all forms of Spinal Muscular Atrophy.



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Last modified: 06/09/04