Question 1

What does CDKL5 stand for?

Accepted Answer

Cyclin-dependent Kinase-like 5

Question 2

Is this a genetic disorder?

Accepted Answer

Yes, CDKL5 disorder is genetic.  It results from a spontaneous (de novo) mutation in the CDKL5 gene that happens shortly after conception.  In the majority of cases it is not inherited.  The CDKL5 gene is located on the X-chromosome (that's why it is referred to as X-linked), and this gene makes a protein (also called CDKL5).  So, in summary, the CDKL5 gene makes the CDKL5 protein.  This CDKL5 protein is vitally important to normal brain development and function.

Question 3

What are the symptoms of CDKL5 disorder?

Accepted Answer

A person is born with this disorder, although the first symptoms may not appear right away. The first symptoms are usually seizures and low muscle tone, and failure to meet developmental milestones.  Poor feeding may be seen early on.  It is very important to know that all children with CDKL5 disorder are different and may not all demonstrate the same symptoms or follow the same course   Seizures within the first 6 months of life, but very often within the first 3 months of life.   Low muscle tone (floppy, can't hold herself up easily or for long periods)   Poor feeding/failure to thrive   Gastrointestinal issues (poor swallow, aspiratoin, reflux, slow digestion, constipation)   Failure or delays in meeting developmental milestones (physical and cognitive)   Apraxia   Cortical Visual Impairement, aka CVI (cortical blindness)   Sensory issues    Scoliosis