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Pontocerebellar hypoplasia type 2 (PCH2) is a rare condition that affects the development of the brain. Signs and symptoms vary but may include microcephaly, developmental delay with lack of voluntary motor development, intellectual disability and movement disorders (i.e. chorea, dystonia, and spasticity). Affected people may also experience dysphagia (difficulty swallowing), impaired vision, seizures and an inability to communicate. Children with this condition often pass away prior to age 10 years, although survival beyond age 20 years has been reported. PCH2 is caused by changes (mutations) in the TSEN54 , TSEN2 , TSEN34 , or SEPSECS gene and is inherited in an autosomal recessive manner. Treatment is supportive and based on the signs and symptoms present in each person.
Source: GARD Last updated on 05-01-20
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