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 YouJun 10
The OIFE Annual General Meeting (AGM) will be held in Stockholm Sweden from June 10-11, 2023. All organizations are invited to attend and to speak at the annual general meeting, […]
Jun 17
The month of June is meaningful to the CDKL5 community. Every year in June, the CDKL5 community works to educate and raise awareness about the disorder.
Jun 23
June 23 is X-linked hypophosphatemia (XLH) Awareness Day. Each year, the XLH community works to educate the general public about the condition and celebrate those who are #XLHStrong.
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].
Rare Experiences
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Reyna
CDKL5 Deficiency Disorder (CDD)“This disorder is always two steps ahead of us so we take it one day at a time.”
