The United States Library of Medicine has published the “Genetic Home Reference - Your Guide to Understanding Genetic Conditions.” I found this website to be a very user-friendly, yet a comprehensive guide to most genetic disorders including Kennedy’s Disease (SBMA). The explanations are well written and for the layperson. On my Living with KD blog, I have posted a series of screenshots of the main pages of the guide. Check it out and let me know what you think.

Screen shots on my blog

Library Home Page

An example of the type of information you will find concerning KD follows:

"What genes are related to spinal and bulbar muscular atrophy?

Spinal and bulbar muscular atrophy results from a particular type of mutation in the AR gene. This gene provides instructions for making a protein called an androgen receptor. This receptor attaches (binds) to a class of hormones called androgens, which are involved in male sexual development. Androgens and androgen receptors also have other important functions in both males and females, such as regulating hair growth and sex drive.

The AR gene mutation that causes spinal and bulbar muscular atrophy is the abnormal expansion of a DNA segment called a CAG triplet repeat. Normally, this DNA segment is repeated up to about 36 times. In people with spinal and bulbar muscular atrophy, the CAG segment is repeated at least 38 times, and it may be two or three times its usual length. Although the extended CAG region changes the structure of the androgen receptor, it is unclear how the altered protein disrupts nerve cells in the brain and spinal cord. Researchers believe that a fragment of the androgen receptor protein containing the CAG segment accumulates within these cells and interferes with normal cell functions. The nerve cells gradually die, leading to the muscle weakness and wasting seen in this condition. People with a higher number of CAG repeats tend to develop signs and symptoms of spinal and bulbar muscular atrophy at an earlier age."

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