What is Kennedy's Disease
Spinal Bulbar Muscular Atrophy
Spinal and Bulbar Muscular Atrophy
X-linked Spinal Bulbar Muscular Atrophy
X-linked Spinal and Bulbar Muscular Atrophy
Kennedy's Disease is a rare and currently incurable and non-treatable X-linked recessive genetic progressive neuro-muscular disease. 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 especially noticeable in the face and throat, and causes speech and swallowing difficulties, major muscle cramps as well as other symptoms (please see "Symptoms" section of this Web site for more detail).
Kennedy's Disease is an adult-onset disease with symptoms usually appearing between the ages of 30 and 50. However, earlier and later onsets have been recorded.>
Generally males with this inherited gene develop symptoms, while females with this gene are usually just carriers. In rare cases, females have been known to exhibit symptoms as well. Life expectancy is noted to be at or almost normal.
It is estimated that 1 in 40,000 individuals worldwide have Kennedy's Disease. However, many go undiagnosed or misdiagnosed for years. The most frequent misdiagnosis is the fatal Lou Gehrig's Disease (ALS).
What causes the symptoms that are associated with Kennedy's Disease?
Motor neurons are long nerve cells that extend from your spinal cord to your muscles. These nerve cells fire to make your muscles contract. In KD (Kennedy's Disease) the nerve cells become dysfunctional and eventually die, leaving the muscles unable to contract.
The androgen receptor is a protein that resides inside the nerve cell. Many cells have the androgen receptor protein, but motor neurons have more than most. The binding of testosterone to an androgen receptor somehow causes the onset of the disease. Men are generally affected by KD because they have much higher levels of testosterone than women.
How did Kennedy’s Disease get its name?
In 1964, George B. walked into the office of William R. Kennedy, MD. George was the first recognized person with Progressive Proximal Spinal and Bulbar Muscular Atrophy of late onset, a sex linked recessive trait.
The identification of this condition in families by Dr. Kennedy was the beginning of the study that has grown to include medical researchers around the world attempting to find a cure for what is universally known today as Kennedy’s Disease.