Sunday, May 19, 2013

Back to the Basics

What is Kennedy’s Disease?
 
Androgen Receptor with KDKennedy’s Disease (also known as Spinal Bulbar Muscular Atrophy, SBMA, or Kennedy's Syndrome is a rare adult-onset progressive neuro-muscular disease. It is caused by a mutation in the CAG Repeats that affects the function of the androgen receptor. Both the spinal and bulbar neurons are affected causing muscle weakness and wasting (atrophy) throughout the body which is most noticeable in the extremities (legs/arms), it is also noticeable in the face and throat, and can cause speech and swallowing difficulties, along with major muscle cramps as well as other symptoms.


When does a person first start seeing signs of the disease?
 
Symptoms usually beginning to appear in men between the ages of 30 and 50. However, onset has also been reported as early as in the teens and as late as the 60s.


Who gets Kennedy’s Disease?
 
Kennedy's Disease is a genetic disease, passed on from generation to generation in a family. Follow this link for a chart reflecting the genetics of the disorder. Generally males who inherit the defective gene exhibit full symptoms, while females are carriers. Females may also exhibit some symptoms, but normally much later in life.


What are the symptoms?
 
Follow this following link for a list of most of the common symptoms: KD Symptoms 

 
Why haven’t I heard of Kennedy’s Disease before?
 
Kennedy’s Disease is considered a ‘rare disorder’. It is estimated that only 1 in 40,000 individuals worldwide have this condition. However, many people go misdiagnosed or undiagnosed for years.

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