Skip to Content


Pronunciation: nahrp

Definition: Acronym for neuropathy, ataxia, retinitis pigmentosa syndrome, one of the inherited mitochondrial disorders, caused by a point mutation resulting in the substitution of a single amino acid in the mitochondrial DNA at position 8993. A more severe expression of the same point mutation manifests clinically as Leigh disease (q.v.).

Disclaimer: This site is designed to offer information for general educational purposes only. The health information furnished on this site and the interactive responses are not intended to be professional advice and are not intended to replace personal consultation with a qualified physician, pharmacist, or other healthcare professional. You must always seek the advice of a professional for questions related to a disease, disease symptoms, and appropriate therapeutic treatments.
© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review Date: Sep 19, 2016.