Overview of CASK Gene Disorder
CASK Gene Disorder is a rare genetic condition caused by changes (variants) in the CASK gene, which is located on the X chromosome. The CASK gene plays an important role in early brain development and in how brain cells communicate with one another.
When the CASK gene does not function as expected, it can affect how the brain forms and how signals are sent within the nervous system. These differences can influence movement, communication, muscle tone, and overall neurological development.
Because the nervous system plays a central role in nearly every function of the body, individuals with CASK Gene Disorder may experience a wide range of challenges that vary in severity from person to person. Each individual is affected differently, and no two journeys with CASK are exactly the same.