Rare neurological diseases encompass a diverse group of conditions that affect the nervous system, including the brain, spinal cord, and peripheral nerves. These disorders are often genetic and can lead to severe impairments in movement, cognition, and overall quality of life.

CDKL5 Deficiency Disorder

CDKL5 deficiency disorder (CDD) is a serious and rare genetic disorder that is caused by a mutation of the cyclin-dependent kinase-like 5 (CDKL5) gene, which is located on the X chromosome and encodes proteins essential for normal brain function. CDD predominantly affects females and is characterized by early-onset, difficult-to-control seizures and severe neuro-developmental impairment. Many children diagnosed with CDD also experience scoliosis, visual impairment, sensory problems, gastrointestinal difficulties, and sleeping disorders. It is estimated that there are 90 – 100 babies born with CDD in the U.S. every year.