Also known as CDKL5 disorder, CKDL5 encephalopathy, CDKL5-related epilepsy, CDKL5-related epileptic encephalopathy, early infantile epileptic encephalopathy 2.
What is it?
CDKL5 (cyclin-dependent kinase-like 5) deficiency is a disorder that is characterized by seizures beginning in infancy, followed by severe neuro-developmental impairment.1
What Causes It?
CDD is caused by a mutation (change) in a person’s CDKL5 gene on the X chromosome, which provides instructions for making a protein that is essential for brain development and function.1
What Are Some Common Symptoms?1
- Early-onset, medication-resistant seizures (epilepsy)
- Developmental delay
- Intellectual disability
- Severe speech impairment
- Movement and balance problems (ataxia)
- Vision problems (cortical visual impairment)
- Small head size (acquired microcephaly)
How Many People Have It?
CDD affects an estimated 1 in 40,000 to 60,000 newborns globally.1
- CDKL5 deficiency disorder. MedlinePlus website. https://medlineplus.gov/genetics/condition/cdkl5-deficiency-disorder/. Published August 17, 2020. Accessed September 10, 2020.
Intended for U.S. audiences only
Participate in CDD Research
Below are research opportunities sponsored by Ultragenyx. Research plays a critical part in advancing science and treatments. Volunteers who participate in this research are essential. Future therapies would not be possible without them. Participating in clinical trials, interviews, observational studies, and disease monitoring programs help to drive research, treatment development, and disease education. It is also a way to advocate for yourself and your community.
We aren’t currently recruiting for research in CDKL5, but there are other ways to connect and contribute. We’d love to hear your experience. If you would consider sharing your story with us, please email [email protected].
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Read more about drug development here and engaging with other organizations such as the U.S. FDA here.
Upcoming Community Events
Participate in Events Near YouCDD Patient Advocacy Groups*
*These organizations are an incomplete listing of rare disease advocacy groups and are not controlled by, endorsed by, or affiliated with Ultragenyx Pharmaceutical Inc. The list is meant for informational purposes only and is not intended to replace your healthcare professional’s medical advice. Ask your doctor or nurse any questions you may have about your disease or treatment plan. If you would like to have your group added to the list, please contact [email protected].
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