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Diseases

Genetic and Rare Diseases Information Center (GARD)

Pontocerebellar hypoplasia type 2


Other Names for this Disease
  • Progressive microcephaly from birth extrapyramidal dyskinesia chorea epilepsy
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

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.[1][2][3] Treatment is supportive and based on the signs and symptoms present in each person.[1]
Last updated: 1/11/2016

References

  1. Yasmin Namavar, MSc, Veerle RC Eggens, MSc, Peter G Barth, MD, PhD, and Frank Baas, MD, PhD. TSEN54-Related Pontocerebellar Hypoplasia. GeneReviews. October 2013; http://www.ncbi.nlm.nih.gov/books/NBK9673/.
  2. Pontocerebellar hypoplasia. Genetics Home Reference. November 2014; http://ghr.nlm.nih.gov/condition/pontocerebellar-hypoplasia.
  3. Pontocerebellar hypoplasia type 2. Orphanet. July 2013; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2524.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Pontocerebellar hypoplasia type 2. This website is maintained by the National Library of Medicine.
  • 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.

In Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
    Pontocerebellar hypoplasia type 2A
    Pontocerebellar hypoplasia type 2B
    Pontocerebellar hypoplasia type 2C
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Pontocerebellar hypoplasia type 2. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Progressive microcephaly from birth extrapyramidal dyskinesia chorea epilepsy
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.