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]

• Disability

  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 ). [rarediseases.info.nih.gov]

  All forms of this condition are characterized by impaired brain development, delayed development overall, problems with movement, and intellectual disability. [medlineplus.gov]

• 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]

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]