CD
KL5 deficiency disorder is a rare genetic disorder that begins in infancy. Seizures begin in infancy, and are followed by significant delays which can affect many aspects of development. Typical features of this disorder include seizures, severe intellectual disability with little to no speaking ability, delayed or absent gross motor skills such as walking, sitting and standing, impaired fine motor skills such as picking up small objects and vision problems. There are also certain repetitive hand movements such as clapping, hand-licking and sucking that affected individuals may exhibit. They may also have gastrointestinal issues such as constipation, or gastroesophageal reflux. Those affected by CDKL5 deficiency disorder may also have certain distinct facial features, such as a high, broad forehead, large deep-set eyes, full lips and widely spaced teeth.
The disorder is caused by variations or mutations in the CDKL5 gene. This gene provides the instructions for a protein which is important in brain development. Variants in this gene reduce the amount of protein that is functional or alter its function in nerve cells. However, scientists are still unsure how these alterations lead to the features of CDKL5 deficiency disorder.
Diagnosis of CDKL5 is initially suspected based on a child’s symptoms. They will be evaluated by a wide range of specialists, including pulmonologists, gastroenterologists, cardiologists and ophthalmologists. The diagnosis is confirmed through genetic testing, which can be performed through blood testing or saliva testing and is sent to a laboratory for genetic sequencing.
Treatment is focused on treating a child’s individual symptoms, such as anti-seizure medication to manage seizures, physical therapy to improve muscle tone and prevent foot deformities and occupational and speech therapy. Patients can also meet with a dietitian to ensure optimal nutrition.
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