What is CDKL5 mutation?
CDKL5 deficiency disorder (CDD) is a rare developmental epileptic encephalopathy (DEE) caused by changes (mutations) in the CDKL5 gene. CDD has been classified as a DEE because the genetic change causes both the epileptic activity as well as the severe impairment of development.
How long do you live with CDKL5?
Q: What is life expectancy? A: Since CDKL5 was discovered only in 2004, we do not have enough data to fully answer this. We do know, however, that the oldest people described in the medical literature with CDKL5 are over 40 years old. There are many others that we know of who are in their mid-30s, 20s, and teens.
What are the symptoms of CDKL5?
CDKL5 Disorder | Symptoms
- Early-onset epilepsy.
- Impaired gross motor skills (such as walking)
- Impaired fine motor skills (such as grasping)
- Global developmental delays and intellectual disability.
- Impaired language/communication and social skills.
Can CDKL5 be cured?
Although no cure for CDKL5 disorder currently exists, there is ongoing research aiming to better understand how CDKL5 mutations affect brain function so that potential treatments can be developed.
How rare is CDKL5?
CDKL5 deficiency disorder appears to be a rare condition with an incidence of 1 in 40,000 to 60,000 newborns. About 90 percent of those diagnosed with CDKL5 deficiency disorder are girls.
What is CDKL5 syndrome?
CDKL5 disorder is a rare neurodevelopmental condition that is characterized by early-onset epilepsy (seizures), low muscle tone and developmental challenges.
Is CDKL5 inherited?
This condition is inherited in an X-linked dominant pattern . The CDKL5 gene is located on the X chromosome, which is one of the two sex chromosomes . In females (who have two X chromosomes), a mutation in one of the two copies of the CDKL5 gene in each cell causes the disorder.
What causes CDKL5 disorder?
What causes CDKL5 disorder? The disorder is caused by variants in the cyclin-dependent kinase-like 5 (CDKL5) gene. CDKL5 codes for an enzyme that plays an important role in brain development and function.
What is the life expectancy of a child with West syndrome?
Life expectancy for West syndrome is variable. About five in every 100 infants and children with West syndrome do not survive beyond five years of age. A study of 214 Finnish children over 25 years of age showed about 61% dying at or before age 10 years.
How does the CDKL5 gene get passed down?
Most pathogenic variants within the CDKL5 gene occur spontaneously and are not passed down through families. However, in rare cases, families in which multiple siblings were affected with the same pathogenic variant have been reported.
Why is CDKL5 deficiency disorder classified as Dee?
CDKL5 deficiency disorder (CDD) is a rare developmental epileptic encephalopathy (DEE) caused by changes (mutations) in the CDKL5 gene. CDD has been classified as a DEE because the genetic change causes both the epileptic activity as well as the severe impairment of development.
How does a deficiency of CDKL5 affect the brain?
Mutations in the CDKL5 gene reduce the amount of functional CDKL5 protein or alter its activity in neurons. A shortage (deficiency) of CDKL5 or impairment of its function disrupts brain development, but it is unclear how these changes cause the specific features of CDD.
How often does CDKL5 deficiency disorder occur in males?
About 1 in 5 children use a feeding tube. CDKL5 deficiency disorder occurs more often in females than males, and males usually have more severe symptoms. This disorder is caused by a change (pathogenic variant) in the CDKL5 gene that is usually not inherited from either parent (de novo). It is an X-linked dominant disorder.