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Genetic and Rare Diseases Information Center (GARD)

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Pontocerebellar hypoplasia type 1


Other Names for this Disease

  • Pontocerebellar hypoplasia with anterior horn cell disease
  • Pontocerebellar hypoplasia with infantile spinal muscular atrophy
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 1 (PCH1) is a genetic condition that affects the development of the brain. Individuals with this condition have an unusually small and underdeveloped cerebellum, which is the part of the brain that coordinates movement. A region of the brain called the pons also fails to develop properly. The pons, which is located at the base of the brain in an area called the brainstem, transmits signals from the cerebellum to the rest of the brain.[1] Individuals with PCH1 also experience a degeneration of the anterior horn cells. Because of the anterior horn cell involvement, this condition bears a resemblance to infantile spinal muscular atrophy, with severe muscle weakness.[1][2] Other signs and symptoms of PCH1 include very weak muscle tone (hypotonia), joint deformities called contractures, a small head size (microcephaly), and breathing problems that are present at birth. Mutations in the VRK1 gene have been identified in at least one family with PCH1.[1] The condition is inherited in an autosomal recessive manner.[1][2] Most children with PCH1 live only into infancy.[1]
Last updated: 4/16/2010

References

  1. Pontocerebellar hypoplasia. Genetics Home Reference (GHR). December 2009; http://ghr.nlm.nih.gov/condition=pontocerebellarhypoplasia. Accessed 7/20/2011.
  2. Omar S, Ajibola A. Pontocerebellar Hypoplasia. National Organization for Rare Disorders (NORD). 2009; http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Pontocerebellar%20Hypoplasia. Accessed 4/16/2010.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Pontocerebellar hypoplasia type 1. 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 Online Mendelian Inheritance in Man (OMIM) is an 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. 
  • 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 1. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Pontocerebellar hypoplasia with anterior horn cell disease
  • Pontocerebellar hypoplasia with infantile spinal muscular atrophy
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.