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Diseases

Genetic and Rare Diseases Information Center (GARD)

Neuropathy ataxia retinitis pigmentosa syndrome


Other Names for this Disease
  • NARP syndrome
  • NARP
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

Neuropathy ataxia retinitis pigmentosa (NARP) syndrome is characterized by a variety of signs and symptoms that mainly affect the nervous system. Beginning in childhood or early adulthood, most people with NARP experience numbness, tingling, or pain in the arms and legs (sensory neuropathy); muscle weakness; and problems with balance and coordination (ataxia). Affected individuals may also have vision loss caused by a condition called retinitis pigmentosa. Other features of NARP include learning disabilities, developmental delay, seizures, dementia, hearing loss, and cardiac conduction defects. Mutations in the MT-ATP6 gene cause NARP syndrome. This gene is located within mitochondrial DNA (mtDNA).[1] Most individuals with NARP have a specific MT-ATP6 mutation in 70 percent to 90 percent of their mitochondria.[2] NARP syndrome is inherited from the mother (maternal inheritance) because only females pass mitochondrial DNA to their children.[1]
Last updated: 1/27/2016

References

  1. Neuropathy, ataxia, and retinitis pigmentosa. Genetics Home Reference. November 2006; http://ghr.nlm.nih.gov/condition/neuropathy-ataxia-and-retinitis-pigmentosa.
  2. MT-ATP6. Genetics Home Reference. October 2011; http://ghr.nlm.nih.gov/gene/MT-ATP6.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Neuropathy ataxia retinitis pigmentosa syndrome. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

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 Neuropathy ataxia retinitis pigmentosa syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • NARP syndrome
  • NARP
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.