Pontocerebellar hypoplasia

Disease Overview

Pontocerebellar hypoplasia (PCH) is a group of conditions affecting the brain characterized by underdevelopment of the cerebellum and pons. The cerebellum normally coordinates movement and the pons (located in the brainstem) transmits signals from the cerebellum to the rest of the brain. Several forms of PCH have been described, each having some different signs and symptoms but all characterized by problems with movement, delayed psychomotor development, and intellectual disability. Although each form has a different genetic cause, they are all inherited in an autosomal recessive manner.[5697][5698] Many children with PCH live only into infancy or childhood, although some individuals have lived into adulthood.[5697] Treatment is symptomatic and supportive.[5698]