PCH2 is caused by changes (mutations ) in the TSEN54, TSEN2, TSEN34, or SEPSECSgene and is inherited in an autosomal recessive manner.[1][2][3] Treatment is supportive and based on the signs and symptoms present in each person.[1] Last updated: 1/11/2016 [rarediseases.info.nih.gov]

The brain abnormalities are usually present at birth, and in some cases they can be detected before birth. [medlineplus.gov]

• Epilepsy

  […] neurodegenerative disease PCH2B 612389 TSEN2 3p25.2 PCH2C 612390 TSEN34 19q13.42 PCH2D 613811 SEPSECS 4p15.2 Progressive cerebello-cerebral atrophy (PCCA) PCH2E 615851 VPS53 17p13.3 Profound mental retardation, progressive microcephaly, spasticity, and early-onset epilepsy [en.wikipedia.org]

• Weakness

  Individuals with PCH1 also have very weak muscle tone (hypotonia), joint deformities called contractures, vision impairment, and breathing and feeding problems that are evident from early infancy. [medlineplus.gov]

• Small Head

  Pontocerebellar hypoplasia also causes impaired growth of other parts of the brain, leading to an unusually small head size (microcephaly). [medlineplus.gov]

• Seizure

  [12] PCH10 615803 CLP1 11q12.1 Severely delayed psychomotor development, progressive microcephaly, spasticity, seizures, and brain abnormalities, including brain atrophy and delayed myelination[13] Pontine and cerebellar hypoplasia is also observed in [en.wikipedia.org]

  Affected people may also experience dysphagia (difficulty swallowing), impaired vision, seizures and an inability to communicate. [rarediseases.info.nih.gov]

• Global Developmental Delay

  seizures, and spasticity PCH3 608027 PCLO 7q11–q21 Seizures, short stature, optic atrophy, progressive microcephaly, severe developmental delay; described only in a handful of cases.[8] CLAM-PCH, cerebellar atrophy with progressive microcephaly PCH4 [en.wikipedia.org]

PCH2 is caused by changes (mutations ) in the TSEN54, TSEN2, TSEN34, or SEPSECSgene and is inherited in an autosomal recessive manner.[1][2][3] Treatment is supportive and based on the signs and symptoms present in each person.[1] Last updated: 1/11/2016 [rarediseases.info.nih.gov]

Another gene that has been associated with this condition is coenzyme A synthase (COASY).[14] Treatment[edit] This section is empty. You can help by adding to it. [en.wikipedia.org]