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Pontocerebellar hypoplasia
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Overview
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.[1][2] Many children with PCH live only into infancy or childhood, although some individuals have lived into adulthood.[1] Treatment is symptomatic and supportive.[2]
References
- Pontocerebellar hypoplasia. Genetics Home Reference. http://ghr.nlm.nih.gov/condition/pontocerebellar-hypoplasia. Accessed December 18, 2012.
- Pontocerebellar hypoplasia. NORD. http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1211/viewAbstract. Accessed December 18, 2012.
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General Information
- Genetics Home Reference (GHR) contains information on Pontocerebellar hypoplasia. Click on the link to go to GHR and review the information.
- The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
- The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss the different types of pontocerebellar hypoplasia. Click on the link to access links to these resources.
- Orphanet is a database dedicated to information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to access links to information about the different types of pontocerebellar hypoplasia.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Pontocerebellar hypoplasia. Click on the link to view a sample search on this topic.