CDKL5 deficiency disorder, CDKL5 disorder, Early infantile epileptic encephalopathy-2, X-linked dominant infantile spasm syndrome-2, CDKL5-related disorder, CDKL5 deficiency


Type of disease: Rare Condition or Disease

CDKL5 deficiency disorder is a genetic disorder that causes seizures, developmental delay, and severe intellectual disability. Seizures usually begin within the first 3 months, and can appear as early as the first week after birth. The most common types are generalized tonic-clonic seizures, which involve a loss of consciousness, muscle rigidity, and convulsions; tonic seizures, which are characterized by abnormal muscle contractions; and epileptic spasms, which involve short episodes of muscle jerks. Seizures occur daily in most people with CDKL5 deficiency disorder and typically are resistant to treatment. Most children have severe intellectual disability and little or no speech, development of gross motor skills, such as sitting, standing, and walking, is delayed or not achieved. Most people with this condition have vision problems. Other common features include repetitive hand movements (stereotypies), such as clapping, hand licking, and hand sucking; teeth grinding (bruxism); disrupted sleep; feeding difficulties; and gastrointestinal problems including constipation and backflow of acidic stomach contents into the esophagus.

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