What the CASK?
CASK disease, also known as CASK-related intellectual disability, is a rare genetic disorder that affects brain development.
It is caused by mutations in the CASK gene, which provides instructions for making a protein involved in brain development.
There are two main forms of CASK disease:
Microcephaly with pontine and cerebellar hypoplasia (MICPCH):
This form is more severe, particularly in males.
It is characterized by a small head size, underdeveloped brain regions, and severe developmental delay.X-linked intellectual disability (XL-ID) with or without nystagmus:
This form is less severe than MICPCH and is more common in females. It is characterized by intellectual disability, eye movement problems (nystagmus), and other developmental delays.
Symptoms of CASK disease may include:
Intellectual disability
Developmental delay
Seizures
Hearing loss
Vision problems
Movement disorders
Feeding difficulties
Behavioral problems
