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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. Many children with PCH live only into infancy or childhood, although some individuals have lived into adulthood. Treatment is symptomatic and supportive.
Source: GARD Last updated on 05-01-20
The different forms of pontocerebellar hypoplasia (PCH) are generally caused by mutations in several different genes. These genes appear to play important roles in the development and survival of nerve cells. However, it is unclear how mutations in these genes disrupt the normal development of the cerebellum and pons. Research thus far has found that:
Specific genes that cause PCH3, PCH5 and PCH7 have not yet been identified.
Although experts agree that PCH has a genetic cause, other causes (such as infectious or toxic) have been reported or suspected in some cases.
Last updated on 05-01-20
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