CASK gene disorders
What are the symptoms?
CASK-related disorders are associated with a wide array and spectrum of symptoms. The information below is gathered from the global CASK registry, which currently represents the largest sample size of any study into symptoms.
Most common symptoms
More than 50% of survey respondents reported an issue in these areas (total respondents = 116).
- Cognitive impairment
- Coordination issues
- Muscle issues (mainly hypotonia and/or hypertonia)
- Digestive system issues (such as constipation, feeding issues and reflux)
- Eyes/vision (mostly abnormal movement, visual impairment and optic nerve hypoplasia)
- Growth (caregivers report children growing both below and above the normal growth curve)
- Sleep issues
Moderately common symptoms
Between 30% and 50% of survey respondents reported an issue in these areas (respondents ranged between 62 and 116).
- Unusual movements
- Ears/hearing issues
- Seizures
- Behaviour issues
The CASK infographic
In 2025 CASK Research won £20,000 worth of pro-bono work from Costello Medical. They created an infographic using data from the RARE-X patient registry. We aim to update this infographic annually to give families an up-to-date, visually appealing summary of CASK disorders. Share it with clinicians, therapists and family members.
CASK Research and our partners in the CASK Coalition are working to get a more accurate picture of CASK-related disorders. We collaborate with clinicians and researchers to detect knowledge gaps, provide more detail and link symptoms with genetic variants.
If you are a caregiver of someone with a CASK mutation, please visit our Registry page to see how you can help.
CASK Registries (coming soon)