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Diseases

Genetic and Rare Diseases Information Center (GARD)

Juvenile primary lateral sclerosis


Other Names for this Disease
  • JPLS
  • Primary lateral sclerosis, juvenile
  • PLS juvenile
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Overview

Juvenile primary lateral sclerosis is a rare disorder characterized by progressive weakness and stiffness of muscles in the arms, legs, and face. This disorder damages motor neurons, which are specialized nerve cells in the brain and spinal cord that control muscle movement. Symptoms begin in early childhood and progress over a period of 15 to 20 years. Juvenile primary lateral sclerosis is caused by mutations in the ALS2 gene. It is inherited in an autosomal recessive pattern.[1]
Last updated: 3/4/2011

References

  1. Juvenile primary lateral sclerosis. Genetics Home Reference (GHR). 2007; http://ghr.nlm.nih.gov/condition/juvenile-primary-lateral-sclerosis. Accessed 3/4/2011.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Juvenile primary lateral sclerosis. This website is maintained by the National Library of Medicine.

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. 
  • 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 Juvenile primary lateral sclerosis. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • JPLS
  • Primary lateral sclerosis, juvenile
  • PLS juvenile
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.