NARP, syndrome
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(acronym for Neuropathy, Ataxia and Retinitis Pigmentosa)
Mitochondrial cytopathy (mutation 8993 in the ATPase 6 gene of the mitochondrial DNA). Developmental retardation with ataxia, neuropathy, dementia, retinitis pigmentosa, epilepsy. MILS syndrome (Leigh syndrome of maternal inheritance) is a severe form of NARP syndrome, beginning before 1 year of age.
Anesthetic implications:
anesthetic management of a mitochondrial cytopathy (see this term)
References :
Updated: November 2018