CDKL5:A Rare Genetic Disorder

CDKL5 is an extremely rare genetic disorder that mainly affects young girls. The condition causes developmental delays, seizures, and a host of other health problems. There are approximately 200 children worldwide that have been diagnosed with CDKL5, according to the News-Herald. It typically takes several years for doctors to recognize and diagnose CDKL5 because of the rareness of the disorder. Likewise, there is a limited research base on CDKL5, which makes effective treatment difficult.

Symptoms of CDKL5. Seizures are one of the most common symptoms of CDKL5 and they usually begin to occur within several months after birth. Other symptoms become more obvious as the child develops and fails to reach developmental milestones. Many children with CDKL5 “cannot walk, talk or feed themselves, and many are confined wheelchairs, dependent on others for everything. Many also suffer with scoliosis, visual impairment, sensory issues and various gastrointestinal difficulties,” (International Foundation for CDKL5 Research). Additional symptoms of CDKL5 include hypersensitivity to touch, breathing irregularities, and hand wringing movements. Children with CDKL5 may also display autistic-like symptoms, such as a lack of eye-contact.

Causes of CDKL5. Doctors are unable to pinpoint the exact cause of CDKL5. Although CDKL5 is a genetic disorder, it does not appear to be passed down to children from their parents. Some research has indicated that CDKL5 is related Rett syndrome. Further research is needed to better understand the possible causes for the CDKL5, and to support the development of more effective treatments.

Treatment for CDKL5. Common treatment for CDKL5 consists of addressing the symptoms. Since seizures are very common with CDKL5, medications and dietary changes are used to help control episodes. Most children with CDKL5 also receive on-going treatment in the form of speech and physical therapy. In addition, music and water therapies are both useful forms of treatment for children with CDKL5.

If you believe that your child might be displaying symptoms of CDKL5 do not hesitate to consult with a doctor. Proper diagnosis and early treatment is the best defense for CDKL5. For more information about this disorder and other rare diseases contact the National Organization for Rare Diseases.

Shannon Rossi, Girl 5, has rare illness; benefit scheduled, News-Herald
About CDKL5, International Foundation for CDKL5

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