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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