Overview of CASK Gene Disorder
CASK Gene Disorder is a genetic mutation on the X chromosome, specifically the CASK genes that code for different proteins. CASK stands for calcium/calmodulin-dependent serine protein kinase. It is a disorder that affects the way the brain forms, the way neurons (brain cells) communicate with each other, the release of neurotransmitters and action potentials among other widespread effects.
Basically, the nerve signals sent between brain cells in one region of the brain to different brain regions are adversely affected. Also, nerve signals sent from the brain to other body parts are affected. As you can imagine, the effects are widespread and significant. Additionally, CASK Gene Disorder leads to decreased post-synaptic acetylcholine release at neuromuscular junctions, leading to poor muscle contraction. CASK Gene Disorder brings many challenges, essentially to everything the body and brain does.