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Genetic and Rare Diseases Information Center (GARD)

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CDKL5-related disorder


Other Names for this Disease

  • CDKL5
  • CDKL5 disorder
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Overview

A CDKL5-related disorder is a genetic, neuro-developmental condition due to changes (mutations) in the CDKL5 gene. Epileptic encephalopathy (epilepsy accompanied by cognitive and behavioral problems) is the core symptom of a CDKL5-related disorder. Seizures typically begin before 5 months of age. Affected people often have severe intellectual disability with absent speech, and features that resemble Rett syndrome such as hand stereotypies (repetitive movements) and slowed head growth. CDKL5-related disorders have more commonly been reported in females. The inheritance pattern is X-linked dominant. Almost all reported cases have been due to a new mutation in the affected person; one family with 3 affected members has been described. Treatment is symptomatic.[1]

In the past, mutations in the CDKL5 gene have been found in people diagnosed with infantile spasms and/or West syndrome; Lennox-Gastaut syndrome; Rett syndrome; a form of atypical Rett syndrome known as the early-onset seizure type; and autism.[1][2] However, it has more recently been suggested that CDKL5 mutations cause a separate, specific disorder with features that may overlap with these conditions.
Last updated: 7/28/2014

References

  1. Bahi-Buisson N, Bienvenu T. CDKL5-Related Disorders: From Clinical Description to Molecular Genetics. Mol Syndromol. April, 2012; 2(3-5):137-152. Accessed 7/28/2014.
  2. CDKL5. NORD. January 17, 2012; http://rarediseases.org/rare-disease-information/rare-diseases/byID/1256/viewAbstract. Accessed 7/28/2014.
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Basic Information

  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

Selected Full-Text Journal Articles

Other Names for this Disease
  • CDKL5
  • CDKL5 disorder
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.