What is the prevalence of CDKL5?
How many people does CDKL5 affect? Does it have the same prevalence in men and women? And in the different countries?
CDKL5 is a rare genetic disorder that primarily affects females. It is estimated to have a prevalence of approximately 1 in 40,000 to 60,000 live births. The condition is caused by mutations in the CDKL5 gene, which is responsible for normal brain development. CDKL5 disorder is characterized by early-onset seizures, severe developmental delays, intellectual disabilities, and motor impairments. While it is considered a rare condition, it is important to raise awareness and support research efforts to better understand and manage CDKL5 disorder.
CDKL5 (Cyclin-Dependent Kinase-Like 5) is a rare genetic disorder that primarily affects females. It is caused by mutations in the CDKL5 gene, which is responsible for producing a protein essential for normal brain development and function. CDKL5 is characterized by early-onset seizures, severe developmental delays, intellectual disability, and motor impairments.
The prevalence of CDKL5 is estimated to be around 1 in 40,000 to 60,000 live births. However, due to the rarity of the disorder and potential underdiagnosis, the true prevalence might be higher. CDKL5 is considered a rare disease, and its prevalence varies across different populations and regions.
The impact of CDKL5 on affected individuals and their families is significant. The disorder often requires lifelong care and support, including specialized medical interventions, therapies, and educational assistance. Research efforts are ongoing to better understand CDKL5 and develop potential treatments or interventions to improve the quality of life for those affected.
Posted May 23, 2017 by Beth Ann 2120
