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
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Upcoming Community Events
Participate in Events Near YouJul 14
Join the MAGIC Foundation for an educational experience for parents of children living with an endocrine disorder. World renowned speakers from across the globe will present on physical health, mental […]
Jul 22
Join MitoAction and the International Network for Fatty Acid Oxidation Research and Management (INFORM) for the 3rd Annual International Metabolic Conference for Fatty Acid Oxidation Disorders (FAODs) held in Pittsburgh, […]
Sep 1
In September, organizations across the country raise awareness about the importance of screening newborns for potential illnesses and genetic disorders. Learn more
CDD 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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