definition for: #PCH2

Acronym for an extremely rare genetic brain disorder called Pontocerebellar Hypoplasia (PCH), Type 2, one of six forms of PCH described by researchers. PCH is caused by mutations in several different genes, and identified by abnormal brain development (specifically the cerebellum and pons), global delays in development, problems with motor control, and intellectual disabilities. Many children with pontocerebellar hypoplasia live only into infancy or childhood, although some affected individuals have lived into adulthood. 'Major features of Pontocerebellar Hypoplasia type 2 (PCH2) include a lack of voluntary motor skills (such as grasping objects, sitting, or walking), problems with swallowing (dysphagia), and an absence of speech and communication. Affected children typically develop jitteriness (generalized clonus), muscle spasms, and other movement abnormalities. Many also have impaired vision, seizures, and microcephaly that becomes more pronounced as the body grows.' (http://***