Pontocerebellar Hypoplasia


What is Pontocerebellar hypoplasia type 1a?

Pontocerebellar hypoplasia type 1a belongs to a group of inherited conditions affecting the development of the brain. To date, research on pontocerebellar hypoplasia has described at least ten different types and all forms have an underdeveloped brain in common. Pontocerebellar hypoplasia type 1 and 2 are the most common forms of the condition. The term pontocerebellar hypoplasia refers to the area affecting the pons, located at the base of the brain; and the cerebellum located at the back of the brain, which is tasked with coordinating movement. Hypoplasia, in medical terms, means poor brain development or underdevelopment of these regions of the brain. Additionally, there is a degeneration of the anterior horn cells.

Pontocerebellar hypoplasia type I (PCH1) is a very rare genetic condition resulting in poor brain development, muscle movement problems due to loss of specialized nerve cells (motor neurons) in the spinal cord. A hallmark of the disease is very weak muscle tone. Other issues related to PCH1 include joint deformities, vision problems, intellectual disability, seizures, developmental delays, spasticity (tightness of the muscles) as well as breathing and swallowing difficulties.

SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/pontocerebellar-hypoplasia/overview/7219 • DATE UPDATED: 2016-06-12


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