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Learn About Rare Disease >    CDKL5 Deficiency Disorder

CDKL5 Deficiency Disorder

CDKL5 deficiency disorder (CDD) is a genetic epilepsy characterized by hard to control seizures and cognitive impairment. This condition typically presents in early infancy and primarily affects females.

Key characteristics and symptoms of CDKL5 Deficiency Disorder


Difficult to Control Seizures: Most patients with CDD have daily seizures. Seizures typically begin by age 3 months and are extremely difficult to control.

Intellectual Disability: Nearly all patients with CDD have developmental delays and eventually intellectual disability.


  • Behavior problems
  • Difficulty sleeping
  • Low muscle tone
  • Scoliosis
  • Motor problems
  • Vision problems
  • Speech impairment
  • Gastrointestinal problems

How is CDKL5 deficiency disorder diagnosed?

CDD is suspected based on symptoms but is confirmed through genetic testing that identifies a mutation in the CDKL5 gene.

How is CDKL5 deficiency disorder treated?

Currently there is no cure for CDD. Patients are treated for their symptoms, not for the underlying cause of the disease. Seizure control is the primary goal for patients with CDD. There are currently companies investigating treatments for CDD including possible gene therapies.

AmbitCare can help you understand how rare disease might be part of your story.

The average person with a rare disease sees 7.3 specialists over a span of 5-7 years before receiving an accurate diagnosis. AmbitCare Ambassadors provide free services including listening to understand your challenges, guiding you on potential next steps, and recommending resources.

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Have additional questions? Contact an AmbitCare Ambassador by phone at 1-877-584-8995 or by email at today.

Our hours of operation are Monday-Friday, 9-5pm ET. An AmbitCare Ambassador will typically respond within 1-2 business days.

* Please note that while AmbitCare Ambassadors can help you better understand what resources are available for families with loved ones suffering from seizures and developmental delays, they are not licensed medical providers and thus can neither diagnose any disease or disorder nor endorse or recommend any specific medical treatments.