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Neuropathy ataxia retinitis pigmentosa syndrome
Other Names for this Disease
- NARP syndrome
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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 contained within mitochondrial DNA. Most individuals with NARP have a specific MT-ATP6 mutation in 70 percent to 90 percent of their mitochondria. NARP syndrome is inherited from the mother because only females pass mitochondrial DNA to their children.Neuropathy ataxia retinitis pigmentosa (NARP) syndrome mainly affects 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 (
Last updated: 12/28/2009
- Neuropathy, ataxia, and retinitis pigmentosa. Genetics Home Reference. November 2006; http://ghr.nlm.nih.gov/condition=neuropathyataxiaandretinitispigmentosa. Accessed 12/28/2009.
- 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) 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 Neuropathy ataxia retinitis pigmentosa syndrome. Click on the link to view a sample search on this topic.