Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation

Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation is an extremely rare brain development disorder caused by changes in the TUBB3 gene. This gene provides instructions for making a protein called beta-tubulin, which is essential for building the internal scaffolding (called microtubules) that brain cells need to grow, move into the right position, and connect with each other during fetal development. When this gene is not working properly, the brain does not form correctly. This condition affects two main parts of the brain. First, the cerebral cortex — the outer layer of the brain responsible for thinking, movement, and sensation — develops abnormally, a problem called cortical dysgenesis. Second, the pons and cerebellum, which are structures at the base of the brain that control balance, coordination, and many automatic body functions, are unusually small. This is called pontocerebellar hypoplasia. Children with this condition typically have severe intellectual disability, problems with movement and coordination, seizures, difficulty feeding, and limited or absent speech. Some children may also have vision problems due to abnormal eye movement control. Because the condition affects fundamental brain development, symptoms are present from birth or very early infancy. There is currently no cure, and treatment focuses on managing symptoms such as seizures, feeding difficulties, and physical therapy to support the best possible quality of life.

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

Bring these to your next appointment

• Q1.What specific TUBB3 mutation does my child have, and what does it mean for their prognosis?,What is the best plan for managing my child's seizures, and what should I do if a seizure lasts too long?,Does my child need a feeding tube, and how will we monitor their nutrition and growth?,What therapies (physical, occupational, speech) are recommended, and how often?,Is this mutation inherited or did it happen for the first time in my child? What does this mean for future pregnancies?,Are there any clinical trials or research studies my child might be eligible for?,What palliative or supportive care services are available to help our family?

Common questions about Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation

Related conditions

Other rare diseases commonly researched alongside Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation.

• Miller-Dieker syndrome→
• Polymicrogyria→